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 SLC12A1 6557 broad.mit.edu 37 15 48536965 48536965 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:48536965G>A uc001zwn.4 + 10 1532 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q SLC12A1_uc010uew.1_Missense_Mutation_p.R245Q|SLC12A1_uc010bem.3_Missense_Mutation_p.R439Q|SLC12A1_uc001zwq.4_Missense_Mutation_p.R210Q|SLC12A1_uc001zwr.4_Missense_Mutation_p.R166Q NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 439 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TGTGTGGTCCGAGATGCCACC 0.458000 29 6 0 0 0.001168 0 0 DSG1 1828 broad.mit.edu 37 18 28911671 28911671 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:28911671G>A uc002kwp.3 + 5 737 c.525G>A c.(523-525)ctG>ctA p.L175L NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 175 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TAGATACACTGGTGATGATAC 0.333000 8 7 0 0 0.003080 0 0 RWDD1 51389 broad.mit.edu 37 6 116905895 116905895 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:116905895C>T uc003pxd.3 + 2 308 c.145C>T c.(145-147)Cag>Tag p.Q49* RWDD1_uc003pxc.3_5'UTR|RWDD1_uc003pxb.3_5'UTR NM_015952 NP_057188 Q9H446 RWDD1_HUMAN Homo sapiens RWD domain containing 1 (RWDD1), transcript variant 1, mRNA. 49 RWD. protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) CTTAGCTGTCCAGACTACCCT 0.358000 27 18 0 0 0.007413 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667684 70667684 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:70667684C>T uc003xyl.3 - 3 1940 c.1233G>A c.(1231-1233)tcG>tcA p.S411S SLCO5A1_uc010lzb.3_Silent_p.S411S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S411S|SLCO5A1_uc010lzc.2_Silent_p.S411S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 411 integral to membrane|plasma membrane transporter activity p.S411L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CAAATCCCATCGAAGAAACTT 0.383000 47 7 0 0 0.006214 0 0 HRNR 388697 broad.mit.edu 37 1 152190978 152190978 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152190978C>T uc001ezt.1 - 2 3203 c.3127G>A c.(3127-3129)Ggc>Agc p.G1043S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1043 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCGGAGCCAGACTCATAT 0.577000 87 81 0 0 0.003610 0 0 FGD2 221472 broad.mit.edu 37 6 36982748 36982748 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:36982748C>T uc010jwp.1 + 7 1134 c.963C>T c.(961-963)ctC>ctT p.L321L FGD2_uc003ong.2_Silent_p.L43L|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.L127L NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 321 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ACACCCTGCTCCGTGAGGGCC 0.632000 30 6 0 0 0.001984 0 0 PDE6C 5146 broad.mit.edu 37 10 95400236 95400236 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:95400236G>A uc001kiu.4 + 12 1797 c.1659G>A c.(1657-1659)agG>agA p.R553R NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 553 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACACTGTGAGGAAAGGGTACC 0.443000 74 17 0 0 0.007413 0 0 KCNA10 3744 broad.mit.edu 37 1 111060215 111060215 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:111060215C>T uc001dzt.1 - 0 1583 c.1195G>A c.(1195-1197)Gat>Aat p.D399N NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 399 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TCTGGCTCATCCACCTCAGCA 0.537000 12 16 0 0 0.003163 0 0 RXRG 6258 broad.mit.edu 37 1 165398042 165398042 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:165398042G>A uc001gda.3 - 1 673 c.211C>T c.(211-213)Cga>Tga p.R71* RXRG_uc021pea.1_5'UTR NM_006917 NP_008848 P48443 RXRG_HUMAN Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA. 71 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.R71*(2) endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GTGATGACTCGATATGGAGAG 0.607000 15 17 0 0 0.006122 0 0 MAGI1 9223 broad.mit.edu 37 3 65479288 65479288 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:65479288C>T uc003dmn.3 - 2 975 c.449G>A c.(448-450)aGa>aAa p.R150K MAGI1_uc003dmm.3_Missense_Mutation_p.R150K|MAGI1_uc003dmo.3_Missense_Mutation_p.R150K|MAGI1_uc003dmp.3_Missense_Mutation_p.R150K|MAGI1_uc010hny.2_Missense_Mutation_p.R34K|MAGI1_uc021xac.1_Missense_Mutation_p.R150K|MAGI1_uc003dmr.3_Missense_Mutation_p.R150K NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 150 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTCTCCTTCTCTGGGAGATCG 0.458000 17 16 0 0 0.006122 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882549 228882549 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:228882549C>T uc002vpq.2 - 6 3068 c.3021G>A c.(3019-3021)acG>acA p.T1007T SPHKAP_uc002vpp.2_Silent_p.T1007T|SPHKAP_uc010zlx.1_Silent_p.T1007T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1007 cytoplasm protein binding p.T1007M(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGTGCTCGTCCGTCTTCCTCT 0.517000 18 31 0 0 0.003271 0 0 PLVAP 83483 broad.mit.edu 37 19 17476802 17476802 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:17476802G>A uc002ngk.1 - 2 512 c.472C>T c.(472-474)Ctc>Ttc p.L158F NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 158 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGCATGAAGAGCAAGGCTAAG 0.557000 26 9 0 0 0.004482 0 0 ERCC6 2074 broad.mit.edu 37 10 50682166 50682166 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:50682166C>T uc001jhs.4 - 12 2659 c.2505G>A c.(2503-2505)tgG>tgA p.W835* ERCC6_uc009xod.3_5'UTR|ERCC6_uc010qgr.2_Nonsense_Mutation_p.W205*|ERCC6_uc001jhr.4_Nonsense_Mutation_p.W203* NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 835 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAGAACGTTTCCAGTACCCAA 0.423000 Direct reversal of damage;Nucleotide excision repair (NER) 52 23 0 0 0.001882 0 0 PIDD 55367 broad.mit.edu 37 11 802336 802336 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:802336G>A uc001lro.2 - 5 1182 c.1035C>T c.(1033-1035)ttC>ttT p.F345F PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Silent_p.F199F|PIDD_uc001lrm.1_Silent_p.F32F|PIDD_uc001lrn.2_Silent_p.F199F|PIDD_uc001lrk.2_Silent_p.F345F|PIDD_uc001lrp.2_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA. 345 ZU5 1. apoptosis|signal transduction cytoplasm|nucleus death receptor binding CTCCCGCTGGGAACTGCAGGC 0.662000 23 5 0 0 0.001984 0 0 ABCA12 26154 broad.mit.edu 37 2 215840723 215840723 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:215840723C>T uc002vew.3 - 33 5387 c.5167G>A c.(5167-5169)Gga>Aga p.G1723R ABCA12_uc002vev.3_Missense_Mutation_p.G1405R|ABCA12_uc010zjn.2_Missense_Mutation_p.G650R NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1723 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGCAACAGTCCAAAGCCATCC 0.433000 16 16 0 0 0.004007 0 0 ASAP3 55616 broad.mit.edu 37 1 23768693 23768694 + Missense_Mutation DNP GA AG AG TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:23768693_23768694GA>AG uc001bha.2 - 6 780_781 c.656_657TC>CT c.(655-657)ttc>tCT p.F219S ASAP3_uc010odz.1_Missense_Mutation_p.F88S|ASAP3_uc010oea.1_Missense_Mutation_p.F210S NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA. 219 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GCTGGGCGTGGAAGAACTTGAT 0.545000 3 5 0 0 0.004672 0 0 ANGPT1 284 broad.mit.edu 37 8 108306214 108306214 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:108306214G>A uc003ymn.3 - 5 1456 c.988C>T c.(988-990)Cgt>Tgt p.R330C ANGPT1_uc011lhv.2_Missense_Mutation_p.R130C|ANGPT1_uc003ymo.3_Missense_Mutation_p.R329C|ANGPT1_uc003ymp.4_Missense_Mutation_p.R129C NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 330 Fibrinogen C-terminal. Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CCATCTTCACGATGTTGTATT 0.338000 61 17 0 0 0.006122 0 0 MYH9 4627 broad.mit.edu 37 22 36689450 36689450 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:36689450G>A uc003apg.3 - 29 4251 c.4020C>T c.(4018-4020)tcC>tcT p.S1340S NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 1340 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTCCCGGAAGGAATTCTTCT 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 46 12 0 0 0.002450 0 0 TRIP11 9321 broad.mit.edu 37 14 92473984 92473984 + Splice_Site SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:92473984C>G uc001xzy.3 - 10 1901 c.1527_splice c.e10+1 p.K509_splice TRIP11_uc010auf.2_Splice_Site_p.K245_splice NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 509 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) ACAGTGTTACCTTTGTAGCTT 0.343000 T PDGFRB AML 44 34 0 0 0.002445 0 0 WASH7P 653635 broad.mit.edu 37 1 14976 14976 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:14976G>A uc009vis.3 - 2 c.369C>T WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA. CTACCCTTGCGCCTCATGACC 0.582000 8 4 0 0 0.000248 0 0 IQCH 64799 broad.mit.edu 37 15 67649700 67649700 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:67649700C>T uc002aqo.2 + 6 752 c.655C>T c.(655-657)Cgg>Tgg p.R219W IQCH_uc010ujv.2_Missense_Mutation_p.R51W|IQCH_uc002aqn.2_Missense_Mutation_p.R46W|IQCH_uc002aqp.2_5'UTR|IQCH_uc002aqq.2_5'UTR NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 219 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CACTATACCTCGGGAACCACC 0.398000 21 21 0 0 0.002299 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931130 94931130 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94931130G>A uc001ydf.3 - 3 1179 c.1018C>T c.(1018-1020)Ctc>Ttc p.L340F SERPINA9_uc001yde.3_Missense_Mutation_p.L240F|SERPINA9_uc010avc.3_Missense_Mutation_p.L191F|SERPINA9_uc001ydg.3_Missense_Mutation_p.L304F|SERPINA9_uc001ydh.1_Missense_Mutation_p.L340F|SERPINA9_uc001ydi.1_Missense_Mutation_p.L304F NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 322 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) ATCTTCGGGAGGATGGTTTCC 0.438000 57 17 0 0 0.004990 0 0 OR52B4 143496 broad.mit.edu 37 11 4389181 4389181 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:4389181C>T uc010qye.2 - 0 436 c.345G>A c.(343-345)ggG>ggA p.G115G NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGCAAGATCCCTGACTCAG 0.473000 14 27 0 0 0.004656 0 0 CSMD2 114784 broad.mit.edu 37 1 34035099 34035099 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:34035099C>T uc001bxm.1 - 51 8183 c.8006G>A c.(8005-8007)gGa>gAa p.G2669E CSMD2_uc001bxn.1_Missense_Mutation_p.G2671E NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2671 Sushi 17. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGACAGTGTTCCGATGCGGTG 0.572000 19 12 0 0 0.001855 0 0 GAB2 9846 broad.mit.edu 37 11 77931434 77931434 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:77931434C>T uc001ozh.3 - 8 1920 c.1818G>A c.(1816-1818)aaG>aaA p.K606K GAB2_uc001ozg.3_Silent_p.K568K NM_080491 NP_036428 Q9UQC2 GAB2_HUMAN Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA. 606 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) CGGTGCTCTTCTTAGGGGCAG 0.577000 38 14 0 0 0.002450 0 0 HEPHL1 341208 broad.mit.edu 37 11 93778858 93778858 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:93778858G>C uc001pep.2 + 1 347 c.190G>C c.(190-192)Gaa>Caa p.E64Q NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 64 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTTATTTCTCGAAAGAGGGCC 0.388000 0 6 0 0 0.001168 0 0 DOCK2 1794 broad.mit.edu 37 5 169141077 169141077 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:169141077C>T uc003maf.3 + 17 1785 c.1705C>T c.(1705-1707)Cct>Tct p.P569S DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.P61S|DOCK2_uc010jjl.1_Missense_Mutation_p.P87S NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 569 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTGACCCTTCCTTCTTATCG 0.567000 34 12 0 0 0.001368 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38775471 38775471 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:38775471C>T uc003xmi.4 + 1 258 c.24C>T c.(22-24)aaC>aaT p.N8N PLEKHA2_uc011lce.2_Intron NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA. 8 PH 1. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) ATCGGCAGAACCGAATCTGTG 0.557000 16 22 0 0 0.003954 0 0 SLC14A2 8170 broad.mit.edu 37 18 43205741 43205741 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:43205741G>A uc002lbe.3 + 2 1060 c.244G>A c.(244-246)Gac>Aac p.D82N SLC14A2_uc002lbb.3_Missense_Mutation_p.D82N|SLC14A2_uc010dnj.3_Missense_Mutation_p.D82N NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 82 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCCCATCGGGACTCAGCAGG 0.507000 9 10 0 0 0.006214 0 0 STT3B 201595 broad.mit.edu 37 3 31658501 31658501 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:31658501T>A uc011axe.2 + 6 1057 c.1057T>A c.(1057-1059)Ttc>Atc p.F353I STT3B_uc003cer.1_Missense_Mutation_p.F353I|STT3B_uc010hft.1_Missense_Mutation_p.F353I NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA. 353 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 CCAGACCCTTTTCTTTTTGGG 0.403000 121 112 0 0 0.003610 0 0 MCOLN2 255231 broad.mit.edu 37 1 85418174 85418175 + Missense_Mutation DNP GG AA AA rs138870286 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:85418174_85418175GG>AA uc001dkm.3 - 4 845_846 c.604_605CC>TT c.(604-606)cct>TTt p.P202F MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 202 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) CCAGTCCGGAGGCTTCTTGGAG 0.396000 11 25 0 0 0.004672 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140744287 140744287 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140744287C>T uc003lju.2 + 0 390 c.390C>T c.(388-390)ttC>ttT p.F130F 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_uc011das.2_Silent_p.F130F NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 130 Cadherin 1. 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) ATGATAACTTCCCGCGTTTCC 0.433000 11 5 0 0 0.001168 0 0 CDH12 1010 broad.mit.edu 37 5 21842363 21842364 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:21842363_21842364CC>TT uc010iuc.2 - 4 1178_1179 c.720_721GG>AA c.(718-723)aaggat>aaAAat p.D241N CDH12_uc011cno.1_Missense_Mutation_p.D201N|CDH12_uc003jgk.2_Missense_Mutation_p.D241N NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 241 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCTCCCATATCCTTGGCTTGGA 0.411000 HNSCC(59;0.17) 22 31 0 0 0.004672 0 0 GPR137B 7107 broad.mit.edu 37 1 236343290 236343290 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:236343290C>T uc001hxq.3 + 3 890 c.799C>T c.(799-801)Cat>Tat p.H267Y NM_003272 NP_003263 O60478 G137B_HUMAN Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA. 267 integral to plasma membrane|membrane fraction p.V266A(1)|p.V266I(1) endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) CAAGAGCGTCCATTCCTTTGA 0.517000 51 12 0 0 0.001855 0 0 ZNF800 168850 broad.mit.edu 37 7 127014581 127014581 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:127014581G>A uc010lla.2 - 4 1521 c.809C>T c.(808-810)cCa>cTa p.P270L ZNF800_uc003vlw.1_Missense_Mutation_p.P173L|ZNF800_uc003vlx.1_Missense_Mutation_p.P270L|ZNF800_uc003vly.1_Missense_Mutation_p.P270L NM_176814 NP_789784 Q2TB10 ZN800_HUMAN Homo sapiens zinc finger protein 800 (ZNF800), mRNA. 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GGATTGGTTTGGATTCTTTCG 0.363000 76 44 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202820 140202820 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140202820C>T uc003lhl.2 + 0 1460 c.1460C>T c.(1459-1461)gCc>gTc p.A487V 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_uc003lhk.1_Missense_Mutation_p.A487V|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A487V NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 502 Cadherin 5. 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) CAGGAGAACGCCCTGGTGTCC 0.662000 31 15 0 0 0.006122 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356686 37356686 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:37356686G>A uc002xjc.3 + 1 1245 c.982G>A c.(982-984)Ggc>Agc p.G328S NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 328 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TTCGCTGGAGGGCAATATGCA 0.562000 25 12 0 0 0.000978 0 0 ZNF781 163115 broad.mit.edu 37 19 38160067 38160067 + Nonstop_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:38160067T>G uc002ogy.2 - 3 1725 c.983A>C c.(982-984)tAa>tCa p.*328S ZNF781_uc002ogz.2_Nonstop_Mutation_p.*323S|ZNF781_uc021utu.1_Splice_Site_p.*328_splice NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN Homo sapiens zinc finger protein 781 (ZNF781), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 GATGTCTCATTAGATGTGCAT 0.363000 67 34 0 0 0.003755 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3677314 3677315 + Missense_Mutation DNP GG AC AC TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:3677314_3677315GG>AC uc002wja.3 - 9 2601_2602 c.2601_2602CC>GT c.(2599-2604)ggcctt>ggGTtt p.L868F SIGLEC1_uc002wiz.4_Missense_Mutation_p.L868F NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 868 Ig-like C2-type 8. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGTCCCCAAGGCCCAGTTCTC 0.579000 32 16 0 0 0.004672 0 0 WWC2 80014 broad.mit.edu 37 4 184182240 184182240 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:184182240C>T uc010irx.3 + 10 1646 c.1464C>T c.(1462-1464)ttC>ttT p.F488F WWC2_uc003ivk.4_Silent_p.F283F|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Silent_p.F170F|WWC2_uc003ivn.4_Silent_p.F52F NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA. 488 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AACTGGACTTCCTTCTGCAAG 0.498000 14 11 0 0 0.001855 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43992615 43992615 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:43992615T>C uc010yny.2 + 29 4443 c.4360T>C c.(4360-4362)Ttt>Ctt p.F1454L NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 1454 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAAGGCAGCATTTCACCACCT 0.483000 217 88 0 0 0.003610 0 0 MKI67 4288 broad.mit.edu 37 10 129901361 129901361 + Silent SNP G A A rs149549696 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:129901361G>A uc001lke.3 - 12 8938 c.8743C>T c.(8743-8745)Ctg>Ttg p.L2915L MKI67_uc001lkf.3_Silent_p.L2555L|MKI67_uc009yav.1_Silent_p.L2490L|MKI67_uc009yaw.1_Silent_p.L2065L NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 2915 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGATCTTCCAGGGGTTGGGCC 0.522000 72 59 0 0 0.003610 0 0 DAGLA 747 broad.mit.edu 37 11 61505676 61505676 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:61505676C>T uc001nsa.3 + 15 1769 c.1653C>T c.(1651-1653)ccC>ccT p.P551P NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 551 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GCACCAAGCCCAAAGTGAGCC 0.637000 7 4 0 0 0.000602 0 0 MAP7D2 256714 broad.mit.edu 37 X 20074887 20074887 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:20074887C>T uc010nfo.2 - 3 512 c.395G>A c.(394-396)cGc>cAc p.R132H MAP7D2_uc004czq.2_Missense_Mutation_p.R3H|MAP7D2_uc011mji.2_Missense_Mutation_p.R88H|MAP7D2_uc004czr.2_Missense_Mutation_p.R132H|MAP7D2_uc011mjj.2_Missense_Mutation_p.R132H|MAP7D2_uc004czs.1_Missense_Mutation_p.R88H NM_001168465 NP_001161937 Q96T17 MA7D2_HUMAN Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA. 132 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CAGGGACCGGCGCATCATCGC 0.562000 0 24 0 0 0.005443 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898773 112898773 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:112898773C>T uc004bei.2 + 8 1837 c.1645C>T c.(1645-1647)Ctg>Ttg p.L549L PALM2-AKAP2_uc004bej.4_Silent_p.L317L|PALM2-AKAP2_uc004bek.4_Silent_p.L317L|PALM2-AKAP2_uc004bel.1_Silent_p.L127L|PALM2-AKAP2_uc011lwi.2_Silent_p.L175L|PALM2-AKAP2_uc004bem.3_Silent_p.L175L|PALM2-AKAP2_uc010mtw.1_Silent_p.L135L|PALM2-AKAP2_uc011lwj.2_Silent_p.L86L|PALM2-AKAP2_uc004ben.3_Silent_p.L86L NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 86 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TGCAGTGGTTCTGGTGGGCGG 0.582000 28 27 0 0 0.006320 0 0 VIT 5212 broad.mit.edu 37 2 37041342 37041342 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:37041342G>A uc002rpl.3 + 15 2222 c.1920G>A c.(1918-1920)gcG>gcA p.A640A VIT_uc002rpm.3_Silent_p.A625A|VIT_uc010ezv.3_Silent_p.A603A|VIT_uc010ezw.3_Silent_p.A604A NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN Homo sapiens vitrin (VIT), transcript variant 1, mRNA. 625 VWFA 2. proteinaceous extracellular matrix p.A640V(1) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TCACCTATGCGATAGGCGTTG 0.522000 19 6 0 0 0.001984 0 0 COL12A1 1303 broad.mit.edu 37 6 75890910 75890910 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:75890910C>T uc021zbv.1 - 9 1944 c.1909G>A c.(1909-1911)Gat>Aat p.D637N COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.D637N|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.D295N NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 637 Fibronectin type-III 3. 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 AAACTAAGATCCTTTGGAGGG 0.318000 49 11 0 0 0.000978 0 0 ERLIN2 11160 broad.mit.edu 37 8 37611016 37611017 + Nonsense_Mutation DNP AC GA GA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:37611016_37611017AC>GA uc003xke.4 + 10 903_904 c.788_789AC>GA c.(787-789)tac>tGA p.Y263* NM_007175 NP_009106 O94905 ERLN2_HUMAN Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA. 263 Interaction with ERLIN1. ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCTGAGTGCTACACTGCTATGA 0.495000 22 9 0 0 0.004672 0 0 GLI2 2736 broad.mit.edu 37 2 121748125 121748125 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:121748125C>T uc010flp.3 + 12 4665 c.4635C>T c.(4633-4635)acC>acT p.T1545T GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.T1217T|GLI2_uc002tmu.4_Silent_p.T1200T NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 1545 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCGCCTCACCACCCCCCGAA 0.622000 62 30 0 0 0.002836 0 0 POTEC 388468 broad.mit.edu 37 18 14542791 14542791 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:14542791C>T uc010dln.3 - 0 809 c.355G>A c.(355-357)Gct>Act p.A119T POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 119 p.A119T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCTCCCCAAGCGCCCACGTTG 0.597000 69 8 0 0 0.008291 0 0 EMX2 2018 broad.mit.edu 37 10 119307636 119307636 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:119307636G>C uc001ldh.4 + 2 1475 c.652G>C c.(652-654)Ggc>Cgc p.G218R EMX2_uc001ldi.4_Missense_Mutation_p.R156T NM_004098 NP_004089 Q04743 EMX2_HUMAN Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA. 218 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) GGAGGAAGAAGGCTCAGATTC 0.493000 14 3 0 0 0.004672 0 0 DNMBP 23268 broad.mit.edu 37 10 101715238 101715238 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:101715238G>A uc001kqj.2 - 3 2085 c.1993C>T c.(1993-1995)Cga>Tga p.R665* DNMBP-AS1_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 665 intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGACGGTGTCGAGATAGGAGC 0.592000 12 6 0 0 0.001168 0 0 STAG3 10734 broad.mit.edu 37 7 99802320 99802321 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:99802320_99802321GG>AA uc003utx.1 + 26 3028_3029 c.2873_2874GG>AA c.(2872-2874)agg>aAA p.R958K STAG3_uc011kjk.1_Missense_Mutation_p.R900K|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.R182K NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 958 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCGAGATGAGGGACCTGGCCC 0.564000 16 17 0 0 0.004672 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598433 151598433 + Silent SNP C T T rs145165680 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:151598433C>T uc003ezf.2 + 2 207 c.102C>T c.(100-102)ttC>ttT p.F34F NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 34 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) GGATTGAGTTCGTTGTGGGAG 0.423000 126 40 0 0 0.002222 0 0 ANK1 286 broad.mit.edu 37 8 41585482 41585482 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:41585482C>T uc003xok.3 - 3 355 c.271G>A c.(271-273)Gat>Aat p.D91N NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D91N|ANK1_uc003xoj.3_Missense_Mutation_p.D91N|ANK1_uc003xol.3_Missense_Mutation_p.D91N|ANK1_uc003xom.3_Missense_Mutation_p.D124N NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 91 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACCACCTCATCCTGCCCGGCT 0.602000 35 23 0 0 0.003954 0 0 CNTN1 1272 broad.mit.edu 37 12 41421698 41421698 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:41421698C>T uc001rmm.1 + 21 2863 c.2750C>T c.(2749-2751)tCt>tTt p.S917F CNTN1_uc001rmn.1_Missense_Mutation_p.S906F NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 917 Fibronectin type-III 4. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCAGTAAGGTCTGGTTCACGC 0.393000 24 14 0 0 0.004007 0 0 SYNE1 23345 broad.mit.edu 37 6 152823773 152823773 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:152823773C>T uc021zhb.1 - 7 1106 c.883G>A c.(883-885)Gat>Aat p.D295N SYNE1_uc003qot.4_Missense_Mutation_p.D302N|SYNE1_uc003qou.4_Missense_Mutation_p.D295N|SYNE1_uc010kjb.1_Missense_Mutation_p.D295N|SYNE1_uc003qpa.1_Missense_Mutation_p.D295N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 295 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTACATCATCCTCTTGCCCA 0.368000 HNSCC(10;0.0054) 25 16 0 0 0.007413 0 0 HSPA7 3311 broad.mit.edu 37 1 161577045 161577046 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:161577045_161577046CC>TT uc010pkp.1 + 0 1197_1198 c.965_966CC>TT c.(964-966)gcc>gTT p.A322V Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA. GTGGAGAAGGCCCTGCGGGATG 0.609000 23 6 0 0 0.004672 0 0 NOX5 79400 broad.mit.edu 37 15 69335131 69335131 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:69335131C>T uc002ars.2 + 9 1674 c.1633C>T c.(1633-1635)Caa>Taa p.Q545* MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Q499*|NOX5_uc002arp.2_Nonsense_Mutation_p.Q527*|NOX5_uc010bid.2_Nonsense_Mutation_p.Q510*|NOX5_uc010bie.2_Nonsense_Mutation_p.Q345*|NOX5_uc002arr.2_Nonsense_Mutation_p.Q517*|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 545 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GAGAAAGAGTCAAAGGTCGTC 0.537000 16 14 0 0 0.003163 0 0 SIGLEC17P 284367 broad.mit.edu 37 19 51671596 51671596 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:51671596G>A uc010ycv.2 + 2 745 c.735G>A c.(733-735)acG>acA p.T245T SIGLEC17P_uc010ycu.2_Silent_p.T245T|SIGLEC17P_uc002pvy.4_Silent_p.T245T|SIGLEC17P_uc002pvz.4_Silent_p.T245T Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA. GTGTGACCACGGAGAGAACCA 0.622000 6 3 0 0 0.004672 0 0 PUS1 80324 broad.mit.edu 37 12 132428095 132428095 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:132428095C>T uc001ujf.3 + 5 1703 c.1248C>T c.(1246-1248)ccC>ccT p.P416P PUS1_uc001ujg.3_Silent_p.P388P|PUS1_uc001ujh.3_Silent_p.P388P|PUS1_uc001uji.3_Silent_p.P363P NM_025215 NP_001002020 Q9Y606 TRUA_HUMAN Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA. 416 mitochondrion RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) TGCCCAGTCCCCTGGAAGGCA 0.607000 43 8 0 0 0.006214 0 0 CSH2 1443 broad.mit.edu 37 17 61949534 61949534 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61949534G>A uc002jch.3 - 4 721 c.606C>T c.(604-606)ttC>ttT p.F202F CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.F107F NM_020991 NP_066271 P01243 CSH_HUMAN Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA. 202 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CCATGCGCAGGAATGTCTCGA 0.582000 71 28 0 0 0.007291 0 0 TP63 8626 broad.mit.edu 37 3 189608623 189608623 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:189608623G>A uc003fry.2 + 12 1787 c.1698G>A c.(1696-1698)acG>acA p.T566T TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T472T|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T387T NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 566 SAM. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T566M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACTATTTCACGACCCAGGGGC 0.433000 HNSCC(45;0.13) 23 21 0 0 0.003954 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927162 130927162 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:130927162G>A uc001uil.2 - 7 900 c.684C>T c.(682-684)ttC>ttT p.F228F RIMBP2_uc001uim.3_Silent_p.F136F NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 228 SH3 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CAAAGTCCACGAAGTTGGAGG 0.602000 17 9 0 0 0.006214 0 0 FBN2 2201 broad.mit.edu 37 5 127674737 127674737 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:127674737C>T uc003kuu.3 - 25 3799 c.3360G>A c.(3358-3360)agG>agA p.R1120R FBN2_uc003kuv.2_Silent_p.R1087R NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1120 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAGGAGAAATCCTGCACTCGT 0.453000 13 22 0 0 0.003954 0 0 SCN10A 6336 broad.mit.edu 37 3 38770293 38770293 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:38770293G>A uc003ciq.3 - 14 2380 c.2380C>T c.(2380-2382)Ctg>Ttg p.L794L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 794 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATGATGGCCAGGATGATGGTG 0.517000 55 21 0 0 0.002299 0 0 DCC 1630 broad.mit.edu 37 18 50683829 50683829 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:50683829G>A uc002lfe.2 + 7 1981 c.1365G>A c.(1363-1365)gcG>gcA p.A455A DCC_uc010xdr.1_Silent_p.A303A|DCC_uc010dpf.2_Silent_p.A110A NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 455 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTGCAGAAGCGAAAGGGAACA 0.502000 25 35 0 0 0.003271 0 0 GPR113 165082 broad.mit.edu 37 2 26534181 26534181 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:26534181G>A uc002rhe.4 - 10 2415 c.2415C>T c.(2413-2415)tcC>tcT p.S805S GPR113_uc010yky.1_Silent_p.S736S|GPR113_uc002rhb.1_Silent_p.S408S|GPR113_uc010eyk.1_Silent_p.S606S|GPR113_uc002rhc.1_Silent_p.S408S|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 805 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCGGAAATAGGAGATCTTGT 0.612000 11 4 0 0 0.000602 0 0 ASIC2 40 broad.mit.edu 37 17 31355347 31355347 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:31355347G>A uc002hht.3 - 3 1924 c.1051C>T c.(1051-1053)Cct>Tct p.P351S ASIC2_uc002hhu.3_Missense_Mutation_p.P300S NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 300 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTGTAAACAGGAAAAAAGTCG 0.577000 30 5 0 0 0.000602 0 0 ADAM33 80332 broad.mit.edu 37 20 3655171 3655171 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:3655171G>A uc002wit.3 - 5 667 c.580C>T c.(580-582)Cct>Tct p.P194S ADAM33_uc002wir.1_Missense_Mutation_p.P194S|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.P194S|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.P206S|ADAM33_uc010zqh.1_Missense_Mutation_p.P194S NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 194 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GGACCACCAGGAAGGCTGGTC 0.572000 30 13 0 0 0.004007 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3397041 3397042 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:3397041_3397042GG>AA uc001akg.4 + 14 2268_2269 c.2020_2021GG>AA c.(2020-2022)gga>AAa p.G674K ARHGEF16_uc001aki.3_Missense_Mutation_p.G386K|ARHGEF16_uc001akj.3_Missense_Mutation_p.G386K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.G378K NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 674 SH3. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GCTCCGGGACGGAGAGACGGGA 0.673000 3 6 0 0 0.004672 0 0 OR1C1 26188 broad.mit.edu 37 1 247920864 247920864 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:247920864G>A uc010pza.2 - 0 845 c.845C>T c.(844-846)gCt>gTt p.A282V NM_012353 NP_036485 Q15619 OR1C1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A282P(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAGCATCGGAGCCACCATTGA 0.473000 44 37 0 0 0.007835 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299259 186299259 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:186299259C>T uc003fqi.3 + 4 1291 c.556C>T c.(556-558)Caa>Taa p.Q186* NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA. 186 protein folding endoplasmic reticulum lumen heat shock protein binding p.Q186Q(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TGGGCGCTTCCAAATGACCCA 0.507000 38 35 0 0 0.005524 0 0 OSGIN1 29948 broad.mit.edu 37 16 83994350 83994350 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:83994350C>T uc002fha.3 + 4 630 c.630C>T c.(628-630)ccC>ccT p.P210P OSGIN1_uc002fhb.3_Silent_p.P127P|OSGIN1_uc002fhc.3_Silent_p.P127P NM_182981 NP_892026 Q9UJX0 OSGI1_HUMAN Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA. 210 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGAACCTCCCCGGGGGAGCCT 0.657000 10 10 0 0 0.008291 0 0 KIAA1191 57179 broad.mit.edu 37 5 175774788 175774788 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:175774788G>A uc003mdw.3 - 8 1105 c.733C>T c.(733-735)Cga>Tga p.R245* KIAA1191_uc003mdx.3_Nonsense_Mutation_p.R226*|KIAA1191_uc003mdy.3_Nonsense_Mutation_p.R245*|KIAA1191_uc003mea.3_Nonsense_Mutation_p.R38*|KIAA1191_uc003mdz.3_Non-coding_Transcript NM_020444 NP_001073152 Q96A73 K1191_HUMAN Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA. 245 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) TGGGCTCCTCGGTAGGCCTGG 0.512000 12 23 0 0 0.001882 0 0 GFRA1 2674 broad.mit.edu 37 10 117849277 117849277 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:117849277A>G uc001lcj.3 - 8 1870 c.1172T>C c.(1171-1173)gTt>gCt p.V391A GFRA1_uc001lci.3_Missense_Mutation_p.V386A|GFRA1_uc009xyr.3_Missense_Mutation_p.V386A NM_005264 NP_005255 P56159 GFRA1_HUMAN Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA. 391 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CGGTGGCAAAACATGAGTGGG 0.562000 46 35 0 0 0.004878 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661858 77661858 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:77661858G>A uc011cbx.2 + 4 3485 c.2532G>A c.(2530-2532)ggG>ggA p.G844G SHROOM3_uc011cbz.1_Silent_p.G668G|SHROOM3_uc003hkf.1_Silent_p.G719G|SHROOM3_uc003hkg.3_Silent_p.G622G NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 844 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding p.G843V(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TAGGCAACGGGGAGCAGCACT 0.592000 38 16 0 0 0.007413 0 0 BDP1 55814 broad.mit.edu 37 5 70820117 70820117 + Silent SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:70820117T>G uc003kbp.1 + 24 6002 c.5739T>G c.(5737-5739)ccT>ccG p.P1913P BDP1_uc003kbo.3_Silent_p.P1913P|BDP1_uc003kbq.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1913 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.E1912G(1) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTCCTGAACCTGTTTCTGCTC 0.388000 40 23 0 0 0.003954 0 0 NLRP12 91662 broad.mit.edu 37 19 54307284 54307284 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:54307284C>T uc002qcj.4 - 5 2730 c.2510G>A c.(2509-2511)gGa>gAa p.G837E NLRP12_uc010eqw.3_Missense_Mutation_p.G119E|NLRP12_uc002qch.4_Missense_Mutation_p.G836E|NLRP12_uc002qci.4_Missense_Mutation_p.G836E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G837E NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 836 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGTGCATTTCCTGTCAGGTC 0.562000 24 10 0 0 0.006214 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110456925 110456925 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:110456925A>T uc003yne.3 + 37 4931 c.4827A>T c.(4825-4827)gaA>gaT p.E1609D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1609 IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity p.V1608V(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCGTAGAAGAAAGTAGTGAGG 0.368000 HNSCC(38;0.096) 119 94 0 0 0.003610 0 0 UBR5 51366 broad.mit.edu 37 8 103359165 103359165 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:103359165G>A uc003ykr.2 - 5 997 c.542C>T c.(541-543)cCa>cTa p.P181L UBR5_uc003yks.2_Missense_Mutation_p.P181L NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 181 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GACAGATGCTGGAATAACTGG 0.517000 35 37 0 0 0.006230 0 0 FAM83H 286077 broad.mit.edu 37 8 144809125 144809125 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:144809125G>A uc003yzk.3 - 4 2575 c.2506C>T c.(2506-2508)Ctc>Ttc p.L836F NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 836 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGGGCAGAGAGGAAGCGGGAA 0.701000 13 4 0 0 0.000248 0 0 SPAG17 200162 broad.mit.edu 37 1 118516144 118516144 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:118516144G>A uc001ehk.2 - 43 6113 c.6045C>T c.(6043-6045)tcC>tcT p.S2015S SPAG17_uc021osr.1_Silent_p.S525S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 2015 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTGCAGCAAGGACTGGGTTG 0.398000 518 22 0 0 0.002299 0 0 C12orf60 144608 broad.mit.edu 37 12 14976469 14976469 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:14976469C>T uc001rcj.4 + 1 804 c.600C>T c.(598-600)tcC>tcT p.S200S C12orf60_uc021qvq.1_Silent_p.S200S NM_175874 NP_787070 Q5U649 CL060_HUMAN Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA. 200 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 CTGAGGATTCCAAAAATCCCA 0.408000 18 17 0 0 0.007413 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055512 72055512 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:72055512G>A uc001xms.3 + 1 1284 c.923G>A c.(922-924)gGg>gAg p.G308E SIPA1L1_uc001xmt.3_Missense_Mutation_p.G308E|SIPA1L1_uc001xmu.3_Missense_Mutation_p.G308E|SIPA1L1_uc001xmv.3_Missense_Mutation_p.G308E NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 308 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GAAGAACTTGGGAAGTCATCA 0.413000 26 23 0 0 0.001882 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439922 150439922 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:150439922G>A uc022apw.1 + 5 1447 c.1307G>A c.(1306-1308)aGa>aAa p.R436K GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.R232K NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. CTGCTCCAAAGAACTGGAGCT 0.587000 29 22 0 0 0.002299 0 0 TERT 7015 broad.mit.edu 37 5 1253879 1253879 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:1253879C>T uc003jcb.1 - 15 3421 c.3363G>A c.(3361-3363)ccG>ccA p.P1121P TERT_uc003jbz.1_Silent_p.P317P|TERT_uc003jcc.1_Silent_p.P1058P|TERT_uc003jca.1_Silent_p.P1109P|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 1121 CTE. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGGGCAGTGCCGGGTTGGCTG 0.667000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 7 13 0 0 0.004007 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752424 19752424 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:19752424C>T uc009zzj.3 - 2 442 c.337G>A c.(337-339)Gag>Aag p.E113K NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 113 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TCGACGATCTCCTTGCCGATG 0.532000 70 52 0 0 0.003610 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885780 88885780 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:88885780G>A uc003ydz.3 - 0 517 c.420C>T c.(418-420)tcC>tcT p.S140S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 140 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GCAGAAGGTGGGAATCCAAGT 0.562000 20 22 0 0 0.001882 0 0 OR5B12 390191 broad.mit.edu 37 11 58207436 58207436 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:58207436G>C uc010rkh.2 - 0 211 c.189C>G c.(187-189)aaC>aaG p.N63K NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCAGGGAGAGGTTACTGAGGA 0.463000 1 12 0 0 0.000978 0 0 PRDX6 9588 broad.mit.edu 37 1 173454641 173454641 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:173454641C>T uc001giy.1 + 2 445 c.394C>T c.(394-396)Cgt>Tgt p.R132C NM_004905 NP_004896 P30041 PRDX6_HUMAN Homo sapiens peroxiredoxin 6 (PRDX6), mRNA. 132 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 TGTGACAGCTCGTGTGGTAGG 0.473000 47 21 0 0 0.001882 0 0 SIN3A 25942 broad.mit.edu 37 15 75676624 75676624 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:75676624G>A uc002bai.3 - 16 3435 c.3176C>T c.(3175-3177)tCa>tTa p.S1059L SIN3A_uc002baj.3_Missense_Mutation_p.S1059L|SIN3A_uc010uml.2_Missense_Mutation_p.S1059L NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 1059 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 ATTCTCATCTGACATTAGCTG 0.483000 124 49 0 0 0.003610 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843293 22843294 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:22843293_22843294GG>AA uc002zwc.1 - 3 1206_1207 c.430_431CC>TT c.(430-432)cct>TTt p.P144F abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.P144F NM_080764 NP_542942 Q86YH2 Z280B_HUMAN Homo sapiens zinc finger protein 280B (ZNF280B), mRNA. 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TGTAATCAAAGGAGAAGGTAAT 0.356000 95 23 0 0 0.004672 0 0 ITIH5 80760 broad.mit.edu 37 10 7621809 7621809 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:7621809C>T uc021pmv.1 - 8 1433 c.1327G>A c.(1327-1329)Gac>Aac p.D443N ITIH5_uc021pmu.1_Missense_Mutation_p.D229N|ITIH5_uc001ijr.2_Missense_Mutation_p.D443N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 443 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 AGCCTGAAGTCCACGTCGTTG 0.627000 39 13 0 0 0.001368 0 0 OVCH2 341277 broad.mit.edu 37 11 7726217 7726217 + Silent SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:7726217G>T uc010rbf.2 - 1 93 c.93C>A c.(91-93)ccC>ccA p.P31P NM_198185 NP_937828 Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA. cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GCCCACAACTGGGAGCTGAGA 0.413000 16 4 0.00024832 0.000340169 0.000248 1 0 ATF7IP2 80063 broad.mit.edu 37 16 10524750 10524750 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:10524750C>A uc002czw.3 + 1 432 c.273C>A c.(271-273)ttC>ttA p.F91L ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.F91L|ATF7IP2_uc002czv.3_Missense_Mutation_p.F91L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.F91L(1) large_intestine(3) 3 GTAAAGTATTCTCTCAGAATT 0.333000 23 21 2.89027e-11 3.98836e-11 0.002299 1 0 SIM2 6493 broad.mit.edu 37 21 38117419 38117419 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:38117419C>T uc002yvr.2 + 9 1614 c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L SIM2_uc002yvq.3_Silent_p.L520L NM_005069 NP_005060 Q14190 SIM2_HUMAN Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA. 520 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TAGGCACAGCCTGGTGCCAAG 0.627000 6 6 0 0 0.001984 0 0 WDR3 10885 broad.mit.edu 37 1 118494990 118494990 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:118494990C>T uc010oxe.1 + 17 2041 c.1975C>T c.(1975-1977)Cag>Tag p.Q659* WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN Homo sapiens WD repeat domain 3 (WDR3), mRNA. 659 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TAAGATTAAACAGTGGGATGC 0.373000 248 26 0 0 0.004656 0 0 TSKU 25987 broad.mit.edu 37 11 76507464 76507464 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:76507464C>T uc021qno.1 + 0 804 c.804C>T c.(802-804)aaC>aaT p.N268N TSKU_uc001oxt.3_Silent_p.N268N NM_015516 NP_056331 Q8WUA8 TSK_HUMAN Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA. 268 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) CCAAGCTTAACTGGGCAGGAG 0.667000 12 70 0 0 0.003610 0 0 IMMT 10989 broad.mit.edu 37 2 86385725 86385725 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:86385725C>G uc002sqz.4 - 9 1540 c.1152G>C c.(1150-1152)tgG>tgC p.W384C IMMT_uc002sqy.4_Missense_Mutation_p.W125C|IMMT_uc010yte.2_Missense_Mutation_p.W337C|IMMT_uc002srb.4_Missense_Mutation_p.W373C|IMMT_uc002sra.4_Missense_Mutation_p.W383C|IMMT_uc010ytd.2_Missense_Mutation_p.W372C|IMMT_uc002src.1_Missense_Mutation_p.W125C NM_006839 NP_006830 Q16891 IMMT_HUMAN Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 384 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCATTCCTTTCCACCCAGGAA 0.403000 8 4 0 0 0.000248 0 0 SCN9A 6335 broad.mit.edu 37 2 167129258 167129258 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:167129258T>A uc010fpl.3 - 16 3310 c.2969A>T c.(2968-2970)tAt>tTt p.Y990F BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1001 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTGTTTCACATAATTTATTCC 0.348000 24 7 0 0 0.003080 0 0 PTGER2 5732 broad.mit.edu 37 14 52794146 52794146 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:52794146G>A uc001wzr.3 + 1 1302 c.1051G>A c.(1051-1053)Gat>Aat p.D351N NM_000956 NP_000947 P43116 PE2R2_HUMAN Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA. 351 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TACACAGTCAGATGCCAGTAA 0.398000 43 24 0 0 0.003954 0 0 UNC79 57578 broad.mit.edu 37 14 94044228 94044228 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94044228A>T uc001ybv.1 + 14 1804 c.1721A>T c.(1720-1722)aAt>aTt p.N574I UNC79_uc001ybs.1_Missense_Mutation_p.N574I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 751 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTTCAGCACAATATGCTTAGT 0.458000 98 90 0 0 0.003610 0 0 ZNF554 115196 broad.mit.edu 37 19 2834600 2834600 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:2834600G>A uc002lwm.2 + 4 1565 c.1367G>A c.(1366-1368)cGa>cAa p.R456Q ZNF554_uc002lwl.2_Missense_Mutation_p.R405Q NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCACGAGCGAACTCACACG 0.547000 24 11 0 0 0.001855 0 0 ASF1B 55723 broad.mit.edu 37 19 14232369 14232369 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:14232369G>A uc002mye.3 - 2 549 c.377C>T c.(376-378)cCg>cTg p.P126L NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA. 126 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 CTTCATGGGCGGGTTCTCACG 0.542000 43 31 0 0 0.003755 0 0 DOCK4 9732 broad.mit.edu 37 7 111430618 111430618 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:111430618G>A uc003vfy.3 - 31 3587 c.3318C>T c.(3316-3318)ttC>ttT p.F1106F DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Silent_p.F511F|DOCK4_uc003vfx.3_Silent_p.F1070F NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1070 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TCACTTCTAGGAAGGGGCCAA 0.403000 23 11 0 0 0.001368 0 0 VSIG2 23584 broad.mit.edu 37 11 124618332 124618332 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:124618332C>T uc001qas.3 - 5 881 c.805G>A c.(805-807)Gag>Aag p.E269K VSIG2_uc001qat.3_Missense_Mutation_p.E269K NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA. 269 integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) TTCCCCCTCTCTTTCTGGAAC 0.607000 2 29 0 0 0.003755 0 0 TOP2B 7155 broad.mit.edu 37 3 25665114 25665114 + Silent SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:25665114A>C uc011awn.1 - 20 2662 c.2619T>G c.(2617-2619)ggT>ggG p.G873G TOP2B_uc003cdj.2_Silent_p.G868G|TOP2B_uc021wug.1_Silent_p.G868G NM_001068 NP_001059 Q02880 TOP2B_HUMAN Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA. 873 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TGCCCTCAGCACCATTTATTA 0.428000 33 19 0 0 0.008871 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924378 105924378 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:105924378G>A uc002tcq.3 - 1 465 c.381C>T c.(379-381)aaC>aaT p.N127N TGFBRAP1_uc002tcr.4_Silent_p.N127N NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 127 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CACTCACAGGGTTCTCGTTCA 0.562000 38 17 0 0 0.008871 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184054 26184054 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:26184054C>T uc003ngt.3 + 0 31 c.31C>T c.(31-33)Ccg>Tcg p.P11S NM_003523 NP_003517 P62807 H2B1C_HUMAN Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA. 11 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CGCTCCCGCCCCGAAGAAGGG 0.527000 67 21 0 0 0.008871 0 0 ZNF592 9640 broad.mit.edu 37 15 85341835 85341836 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:85341835_85341836CC>TT uc002bld.3 + 7 3089_3090 c.2753_2754CC>TT c.(2752-2754)ccc>cTT p.P918L ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 918 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACGGTGTTCCCCGAAATGTGG 0.609000 33 5 0 0 0.004672 0 0 PARK2 5071 broad.mit.edu 37 6 161969965 161969965 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:161969965G>A uc021zhu.1 - 9 1236 c.1145C>T c.(1144-1146)cCt>cTt p.P382L PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Missense_Mutation_p.P144L|PARK2_uc010kkd.3_Missense_Mutation_p.P144L|PARK2_uc003qtx.4_Missense_Mutation_p.P335L|PARK2_uc021zhs.1_Intron|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Missense_Mutation_p.P307L|PARK2_uc003qtz.4_Missense_Mutation_p.P186L|PARK2_uc021zhv.1_Missense_Mutation_p.P256L|PARK2_uc021zhw.1_Missense_Mutation_p.P144L|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Intron|PARK2_uc010kke.1_Missense_Mutation_p.P354L|PARK2_uc011egf.2_Missense_Mutation_p.P9L NM_004562 NP_004553 O60260 PRKN2_HUMAN Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. 335 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TCCACAGCCAGGGCGGGGGCA 0.612000 39 8 0 0 0.004482 0 0 FAM111A 63901 broad.mit.edu 37 11 58919359 58919359 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:58919359C>T uc010rkp.2 + 4 445 c.218C>T c.(217-219)cCc>cTc p.P73L FAM111A_uc010rkq.2_Missense_Mutation_p.P73L|FAM111A_uc010rkr.2_Missense_Mutation_p.P73L|FAM111A_uc001nno.3_Missense_Mutation_p.P73L|FAM111A_uc001nnp.3_Missense_Mutation_p.P73L|FAM111A_uc001nnq.3_Missense_Mutation_p.P73L NM_001142521 NP_942144 Q96PZ2 F111A_HUMAN Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA. 73 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CAGACCATGCCCCAAAATAGG 0.403000 22 47 0 0 0.003610 0 0 MAS1 4142 broad.mit.edu 37 6 160328698 160328698 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:160328698C>T uc003qsz.3 + 0 725 c.711C>T c.(709-711)ttC>ttT p.F237F NM_002377 NP_002368 P04201 MAS_HUMAN Homo sapiens MAS1 oncogene (MAS1), mRNA. 237 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) TCATTATATTCCTCATCTTCG 0.478000 21 20 0 0 0.001523 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432825 111432825 + Missense_Mutation SNP G C C rs146970589 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:111432825G>C uc003dya.3 + 2 1286 c.716G>C c.(715-717)aGt>aCt p.S239T PLCXD2_uc003dxz.3_Missense_Mutation_p.S239T NM_001185106 NP_001172035 Q0VAA5 PLCX2_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA. 239 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 AACACCACAAGTGTGCGCAAA 0.532000 31 10 0 0 0.008291 0 0 FUT3 2525 broad.mit.edu 37 19 5844392 5844392 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:5844392G>A uc002mdk.2 - 1 556 c.459C>T c.(457-459)ttC>ttT p.F153F FUT3_uc002mdm.2_Silent_p.F153F|FUT3_uc002mdj.2_Silent_p.F153F|FUT3_uc002mdl.2_Silent_p.F153F|FUT3_uc021unn.1_Silent_p.F153F NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 153 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TGGTGAGATTGAAGTATCTGT 0.647000 24 22 0 0 0.002780 0 0 SPTA1 6708 broad.mit.edu 37 1 158637817 158637817 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:158637817C>T uc001fst.1 - 14 2068 c.1869G>A c.(1867-1869)caG>caA p.Q623Q NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 623 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAAAGACTTGCTGCTTTTGAA 0.393000 79 56 0 0 0.003610 0 0 ZNF438 220929 broad.mit.edu 37 10 31138274 31138274 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:31138274G>A uc010qdz.2 - 6 1495 c.1060C>T c.(1060-1062)Cag>Tag p.Q354* ZNF438_uc001ivn.3_Nonsense_Mutation_p.Q305*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.Q344*|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Nonsense_Mutation_p.Q354*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.Q344*|ZNF438_uc010qea.2_Nonsense_Mutation_p.Q354*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.Q354*|ZNF438_uc010qec.1_5'UTR NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CAGGCACTCTGCTGTGACACT 0.483000 27 38 0 0 0.005524 0 0 AGGF1 55109 broad.mit.edu 37 5 76342421 76342421 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:76342421A>G uc003ket.3 + 5 1502 c.1120A>G c.(1120-1122)Aca>Gca p.T374A NM_018046 NP_060516 Q8N302 AGGF1_HUMAN Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA. 374 RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AGGTGAAATTACAGACTCTCA 0.368000 101 192 0 0 0.003610 0 0 BMP3 651 broad.mit.edu 37 4 81966962 81966962 + Silent SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:81966962T>A uc003hmg.4 + 1 707 c.387T>A c.(385-387)tcT>tcA p.S129S NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 129 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity 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 ACATTTTGTCTGCCACACTGT 0.413000 48 32 0 0 0.002445 0 0 FRAS1 80144 broad.mit.edu 37 4 79297021 79297021 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:79297021G>A uc003hlb.2 + 25 3720 c.3280G>A c.(3280-3282)Gaa>Aaa p.E1094K FRAS1_uc003hkw.3_Missense_Mutation_p.E1094K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1093 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CACCTCTAATGAAACATGTTC 0.443000 19 17 0 0 0.001523 0 0 CCDC170 80129 broad.mit.edu 37 6 151859312 151859312 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:151859312G>A uc003qol.3 + 2 408 c.319G>A c.(319-321)Gaa>Aaa p.E107K NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 107 CAGAGTTCAGGAACTAGAAGA 0.408000 19 27 0 0 0.005443 0 0 NYAP2 57624 broad.mit.edu 37 2 226447205 226447205 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:226447205C>T uc002voe.2 + 3 1247 c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.L128L NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 358 Pro-rich. GCTTACCCCTCTGGAGGTCAC 0.657000 9 5 0 0 0.000602 0 0 AXL 558 broad.mit.edu 37 19 41762487 41762487 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:41762487G>A uc010ehj.3 + 17 2357 c.2167G>A c.(2167-2169)Gac>Aac p.D723N AXL_uc010ehk.3_Missense_Mutation_p.D714N NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 723 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GAGTCTAGCTGACCGTGTCTA 0.567000 26 15 0 0 0.004007 0 0 ADD2 119 broad.mit.edu 37 2 70904955 70904955 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:70904955C>T uc021vjc.1 - 11 1703 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.E480K|ADD2_uc002sgz.3_Missense_Mutation_p.E480K|ADD2_uc010fdt.2_Missense_Mutation_p.E480K|ADD2_uc002shc.2_Missense_Mutation_p.E480K|ADD2_uc010fdu.2_Missense_Mutation_p.E496K NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 480 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTTGGGTTTTCGATGCGAATC 0.517000 14 5 0 0 0.001984 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958682 57958682 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:57958682C>T uc010rka.2 + 0 777 c.720C>T c.(718-720)acC>acT p.T240T NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CCTTCTCCACCTGCGCCTCCC 0.572000 14 32 0 0 0.008361 0 0 EPHB2 2048 broad.mit.edu 37 1 23222940 23222940 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:23222940G>A uc009vqj.1 + 8 1879 c.1734G>A c.(1732-1734)acG>acA p.T578T EPHB2_uc001bge.3_Silent_p.T579T|EPHB2_uc001bgf.3_Silent_p.T578T|EPHB2_uc010odu.2_Intron NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 578 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CGGAGTACACGGACAAGCTGC 0.597000 33 6 0 0 0.003080 0 0 ELTD1 64123 broad.mit.edu 37 1 79392653 79392653 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:79392653G>A uc001diq.4 - 7 1157 c.1001C>T c.(1000-1002)tCa>tTa p.S334L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 334 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) TGAAATTACTGAAGATATGAC 0.323000 32 18 0 0 0.004990 0 0 EYA1 2138 broad.mit.edu 37 8 72267115 72267115 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:72267115G>A uc003xyu.3 - 2 666 c.26C>T c.(25-27)cCg>cTg p.P9L EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.P9L|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.P9L|EYA1_uc011lfe.2_Missense_Mutation_p.P9L|EYA1_uc003xyv.3_5'UTR NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 9 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ACGGCTATGCGGGCTGGTTAG 0.453000 83 54 0 0 0.003610 0 0 RPL13A 23521 broad.mit.edu 37 19 49995048 49995048 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:49995048C>T uc002pny.3 + 7 610 c.588C>T c.(586-588)ctC>ctT p.L196L RPL13A_uc002pnz.3_Silent_p.L135L NM_012423 NP_036555 P40429 RL13A_HUMAN Homo sapiens ribosomal protein L13a (RPL13A), mRNA. 196 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CAGAGGTCCTCAAGACCCACG 0.527000 4 21 0 0 0.002299 0 0 PLXNB1 5364 broad.mit.edu 37 3 48465165 48465165 + Nonsense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:48465165C>A uc003csw.2 - 2 1126 c.856G>T c.(856-858)Gag>Tag p.E286* PLXNB1_uc003csu.2_Nonsense_Mutation_p.E286*|PLXNB1_uc003csx.2_Nonsense_Mutation_p.E286*|PLXNB1_uc010hjx.1_Non-coding_Transcript NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 286 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGCGCCACCTCCCTGGACGTG 0.672000 16 10 3.07112e-06 4.21858e-06 0.000978 1 0 STARD13 90627 broad.mit.edu 37 13 33681014 33681014 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:33681014C>T uc001uuw.3 - 12 3231 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E STARD13_uc001uuu.3_Silent_p.E1027E|STARD13_uc001uuv.3_Silent_p.E917E|STARD13_uc001uux.3_Silent_p.E1000E NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 1035 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTTCCTCATGCTCCACGGAGA 0.537000 37 36 0 0 0.003755 0 0 RFX5 5993 broad.mit.edu 37 1 151315884 151315884 + Silent SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:151315884A>G uc001exv.1 - 9 1006 c.792T>C c.(790-792)tcT>tcC p.S264S RFX5_uc001exw.1_Silent_p.S264S|RFX5_uc010pcx.1_Silent_p.S224S NM_001025603 NP_001020774 P48382 RFX5_HUMAN Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA. 264 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTTTGGTTTAGATGACCGTT 0.517000 21 18 0 0 0.007413 0 0 PKD2L1 9033 broad.mit.edu 37 10 102048186 102048186 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:102048186G>A uc001kqx.1 - 15 2768 c.2385C>T c.(2383-2385)tcC>tcT p.S795S BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Silent_p.S748S NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 795 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCTCACCACGGGAGAGTCTCC 0.517000 58 48 0 0 0.003610 0 0 GPR116 221395 broad.mit.edu 37 6 46826784 46826784 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:46826784C>T uc003oyo.3 - 16 3145 c.2856G>A c.(2854-2856)acG>acA p.T952T GPR116_uc011dwj.1_Silent_p.T507T|GPR116_uc011dwk.1_Silent_p.T381T|GPR116_uc003oyp.3_Silent_p.T810T|GPR116_uc003oyq.3_Silent_p.T952T|GPR116_uc010jzi.1_Silent_p.T624T NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 952 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T952A(2)|p.T952M(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGACACACTTCGTTTCGCCGC 0.483000 25 29 0 0 0.008361 0 0 GLG1 2734 broad.mit.edu 37 16 74499706 74499706 + Silent SNP G A A rs151123937 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:74499706G>A uc002fcx.3 - 18 2585 c.2535C>T c.(2533-2535)atC>atT p.I845I GLG1_uc002fcw.4_Silent_p.I834I|GLG1_uc002fcy.4_Silent_p.I845I|GLG1_uc002fcz.4_Silent_p.I262I NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 845 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TCAGACATTCGATAATCTATG 0.438000 67 18 0 0 0.008871 0 0 TTBK1 84630 broad.mit.edu 37 6 43251542 43251542 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:43251542G>A uc003ouq.1 + 13 3343 c.3064G>A c.(3064-3066)Gac>Aac p.D1022N TTBK1_uc021yzs.1_Missense_Mutation_p.D310N NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 1022 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGCCCTTGCAGACGGGCCAGC 0.677000 39 6 0 0 0.001168 0 0 OSMR 9180 broad.mit.edu 37 5 38923310 38923310 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:38923310G>A uc003jln.2 + 12 2226 c.1824G>A c.(1822-1824)agG>agA p.R608R OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 608 Fibronectin type-III 3. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTACAAAAAGGATTGCTTGTT 0.348000 18 17 0 0 0.007413 0 0 RFWD3 55159 broad.mit.edu 37 16 74695200 74695200 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:74695200G>A uc002fda.3 - 1 246 c.148C>T c.(148-150)Cca>Tca p.P50S RFWD3_uc010cgq.3_Missense_Mutation_p.P50S NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA. 50 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 AGGATGGATGGTACCCCCTGG 0.627000 74 20 0 0 0.008871 0 0 LRP1B 53353 broad.mit.edu 37 2 141264456 141264456 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:141264456G>A uc002tvj.1 - 52 9402 c.8430C>T c.(8428-8430)ttC>ttT p.F2810F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2810 LDL-receptor class A 18. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATGGCACATGAAAGCATTTT 0.388000 TSP Lung(27;0.18) 21 38 0 0 0.003755 0 0 C6orf70 55780 broad.mit.edu 37 6 170155474 170155474 + Nonsense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:170155474G>T uc003qxg.1 + 2 304 c.271G>T c.(271-273)Gaa>Taa p.E91* C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Nonsense_Mutation_p.E91*|C6orf70_uc010kky.1_5'UTR NM_018341 NP_060811 Q5T6L9 CF070_HUMAN Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA. 91 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GGGGCAATTTGAAATTCGATA 0.463000 53 14 0.000308642 0.000422611 0.003163 1 0 MAP4K3 8491 broad.mit.edu 37 2 39499443 39499443 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:39499443G>A uc002rro.3 - 25 2045 c.1954C>T c.(1954-1956)Cct>Tct p.P652S MAP4K3_uc002rrp.3_Missense_Mutation_p.P631S|MAP4K3_uc010yns.2_Missense_Mutation_p.P205S NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA. 652 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) ATTCTGTCAGGGAGTTTGTGT 0.368000 31 15 0 0 0.004007 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634318 70634318 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:70634318G>A uc001xly.3 - 1 1576 c.822C>T c.(820-822)atC>atT p.I274I SLC8A3_uc001xlw.3_Silent_p.I274I|SLC8A3_uc001xlx.3_Silent_p.I274I|SLC8A3_uc001xlz.3_Silent_p.I274I|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 274 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTGTCTCTATGATAATTCCTC 0.483000 33 12 0 0 0.002450 0 0 PLCB1 23236 broad.mit.edu 37 20 8678363 8678363 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:8678363G>A uc002wnb.3 + 10 1103 c.1100G>A c.(1099-1101)gGa>gAa p.G367E PLCB1_uc010zrb.1_Missense_Mutation_p.G266E|PLCB1_uc002wna.3_Missense_Mutation_p.G367E|PLCB1_uc002wnc.1_Missense_Mutation_p.G266E NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 367 PI-PLC X-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGCTGGAAGGGACGGACTGCA 0.488000 46 42 0 0 0.002222 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261101 62261101 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:62261101C>T uc001sqw.3 - 2 1688 c.106_splice c.e2+1 p.A36_splice FAM19A2_uc001sqx.3_Splice_Site_p.A36_splice|FAM19A2_uc001sqy.3_Splice_Site NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA. 36 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) AAAAGCTTACCTTTATGATGG 0.333000 46 23 0 0 0.005443 0 0 RIN1 9610 broad.mit.edu 37 11 66102660 66102660 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:66102660G>A uc001ohn.1 - 5 737 c.610C>T c.(610-612)Ccc>Tcc p.P204S RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.P99S|RIN1_uc010rpa.1_Missense_Mutation_p.P99S NM_004292 NP_004283 Q13671 RIN1_HUMAN Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA. 204 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 TTCAGCTGGGGCAACACTGGG 0.662000 14 6 0 0 0.001168 0 0 EVPL 2125 broad.mit.edu 37 17 74010615 74010615 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:74010615G>A uc010wss.1 - 17 2559 c.2331C>T c.(2329-2331)ttC>ttT p.F777F EVPL_uc002jqi.2_Silent_p.F755F|EVPL_uc010wst.1_Silent_p.F225F NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 755 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGCAGTTCTTGAACTGCTGGT 0.652000 23 14 0 0 0.004990 0 0 FLJ27352 145788 broad.mit.edu 37 15 55710426 55710426 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:55710426G>A uc002ada.3 + 1 268 c.24G>A c.(22-24)aaG>aaA p.K8K CCPG1_uc002acy.3_Intron|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Intron|DYX1C1_uc002adb.3_Intron NM_001198784 NP_001185713 Homo sapiens uncharacterized LOC145788 (FLJ27352), mRNA. TTTAGGATAAGAAAAGTACTT 0.343000 T CIITA """PMBL, Hodgkin Lymphona, """ 5 6 0 0 0.001168 0 0 TGM7 116179 broad.mit.edu 37 15 43572089 43572089 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:43572089C>A uc001zrf.1 - 9 1417 c.1412G>T c.(1411-1413)aGa>aTa p.R471I NM_052955 NP_443187 Q96PF1 TGM7_HUMAN Homo sapiens transglutaminase 7 (TGM7), mRNA. 471 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CAAAGAAGCTCTTTGGGGGCC 0.597000 31 29 2.47511e-08 3.41078e-08 0.008361 1 0 CILP2 148113 broad.mit.edu 37 19 19656741 19656741 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:19656741C>T uc002nmw.4 + 7 3490 c.3405C>T c.(3403-3405)atC>atT p.I1135I CILP2_uc002nmv.4_Silent_p.I1129I NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 1129 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TTGGTGACATCCGCAGGGAGA 0.731000 9 8 0 0 0.006214 0 0 CHST4 10164 broad.mit.edu 37 16 71571069 71571069 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:71571069G>A uc021tkt.1 + 0 489 c.489G>A c.(487-489)gtG>gtA p.V163V CHST4_uc002fan.3_Silent_p.V163V|CHST4_uc002fao.3_Silent_p.V163V NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA. 163 N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CCTTTGAGGTGGTGGAGAAGG 0.602000 24 27 0 0 0.007291 0 0 DYTN 391475 broad.mit.edu 37 2 207530685 207530685 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:207530685C>T uc002vbr.1 - 9 1166 c.1049G>A c.(1048-1050)aGa>aAa p.R350K NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 350 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCGACAAATTCTTTCTTCCTG 0.383000 39 13 0 0 0.001368 0 0 POLN 353497 broad.mit.edu 37 4 2178024 2178024 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:2178024C>T uc003ger.2 - 6 1229 c.1217G>A c.(1216-1218)aGa>aAa p.R406K POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.R406K NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN Homo sapiens polymerase (DNA directed) nu (POLN), mRNA. 406 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CATTGTAAGTCTGTAGAGTGT 0.398000 DNA polymerases (catalytic subunits) 78 81 0 0 0.003610 0 0 ZNF229 7772 broad.mit.edu 37 19 44933922 44933922 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:44933922C>T uc002oze.1 - 5 1468 c.1034G>A c.(1033-1035)gGa>gAa p.G345E ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.G339E NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V344V(1) breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGGCATGTCTCCCACAGGGGC 0.498000 37 11 0 0 0.001368 0 0 ICAM5 7087 broad.mit.edu 37 19 10404517 10404517 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:10404517G>A uc002mnu.4 + 6 1674 c.1609G>A c.(1609-1611)Gag>Aag p.E537K ICAM5_uc002mnv.4_Missense_Mutation_p.E412K NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA. 537 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GGCCGTCATCGAGGGGCTGTT 0.662000 28 16 0 0 0.004990 0 0 CYP2C8 1558 broad.mit.edu 37 10 96826965 96826965 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:96826965C>T uc001kkb.3 - 3 576 c.481_splice c.e3+1 p.A161_splice CYP2C8_uc010qoa.2_Splice_Site_p.A91_splice|CYP2C8_uc010qoc.2_Splice_Site_p.A59_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.A75_splice|CYP2C8_uc021pwl.1_Splice_Site_p.A91_splice|CYP2C8_uc010qod.1_Splice_Site_p.A75_splice NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 161 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGTCACCCACCCTTGGTTTTT 0.507000 77 29 0 0 0.002445 0 0 GPR156 165829 broad.mit.edu 37 3 119886636 119886636 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:119886636G>A uc011bjf.2 - 8 2068 c.1688C>T c.(1687-1689)tCc>tTc p.S563F GPR156_uc011bjg.2_Missense_Mutation_p.S559F NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 563 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity p.A562D(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GGTGGAGAGGGAAGCCTCAGG 0.582000 30 31 0 0 0.001786 0 0 KRT222 125113 broad.mit.edu 37 17 38813978 38813978 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:38813978C>T uc002hvc.2 - 3 536 c.471G>A c.(469-471)ggG>ggA p.G157G KRT222_uc002hvb.2_Silent_p.G117G|KRT222_uc010cxc.3_Silent_p.G117G NM_152349 NP_689562 Q8N1A0 KT222_HUMAN Homo sapiens keratin 222 (KRT222), mRNA. 157 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 TGTCTTTTTTCCCACCTTGGA 0.308000 70 20 0 0 0.002780 0 0 CNTN3 5067 broad.mit.edu 37 3 74535700 74535700 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:74535700G>A uc003dpm.1 - 2 345 c.265C>T c.(265-267)Ccc>Tcc p.P89S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 89 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTTCTGTTGGGATTAATAACC 0.358000 31 29 0 0 0.007291 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812903 45812903 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:45812903C>T uc011bai.2 - 5 865 c.741G>A c.(739-741)caG>caA p.Q247Q SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Silent_p.Q210Q NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 247 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGAAGAAGATCTGGGTGGCTG 0.587000 25 11 0 0 0.008291 0 0 ATP2A3 489 broad.mit.edu 37 17 3846787 3846787 + Silent SNP C T T rs143762354 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:3846787C>T uc002fwy.2 - 10 1490 c.1317G>A c.(1315-1317)gaG>gaA p.E439E ATP2A3_uc002fwz.2_Silent_p.E439E|ATP2A3_uc002fxa.2_Silent_p.E439E|ATP2A3_uc002fxb.2_Silent_p.E439E|ATP2A3_uc002fxc.2_Silent_p.E439E|ATP2A3_uc002fxd.2_Silent_p.E439E|ATP2A3_uc002fwx.2_Silent_p.E439E NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 439 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) TCTCCGTGGCCTCTCCCACCT 0.632000 40 33 0 0 0.004878 0 0 CEACAM3 1084 broad.mit.edu 37 19 42315244 42315244 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:42315244G>A uc002orn.1 + 6 804 c.728G>A c.(727-729)cGg>cAg p.R243Q CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_Non-coding_Transcript NM_001815 NP_001806 P40198 CEAM3_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA. 243 integral to membrane p.R243Q(2) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 ATTTACTGCCGGATGGACCAC 0.552000 33 12 0 0 0.002450 0 0 SI 6476 broad.mit.edu 37 3 164766919 164766919 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:164766919C>T uc003fei.3 - 14 1774 c.1711G>A c.(1711-1713)Gag>Aag p.E571K NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 571 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.T570K(1)|p.E571D(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTACTGCTCTGTGGCTATA 0.333000 HNSCC(35;0.089) 18 25 0 0 0.007291 0 0 SLIT2 9353 broad.mit.edu 37 4 20591308 20591308 + Silent SNP C T T rs145314495 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:20591308C>T uc003gpr.1 + 29 3334 c.3130C>T c.(3130-3132)Ctg>Ttg p.L1044L SLIT2_uc003gps.1_Silent_p.L1036L NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1044 EGF-like 4. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCCCAGGACCTGAACCCCTG 0.502000 28 21 0 0 0.003954 0 0 GLB1L2 89944 broad.mit.edu 37 11 134212737 134212737 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:134212737C>T uc001qhp.3 + 1 364 c.176C>T c.(175-177)tCc>tTc p.S59F NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 59 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTGGAGGATTCCACCTTCTGG 0.612000 0 18 0 0 0.006122 0 0 SELE 6401 broad.mit.edu 37 1 169697210 169697210 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:169697210G>A uc001ggm.4 - 7 1425 c.1268C>T c.(1267-1269)cCc>cTc p.P423L C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 423 Sushi 4. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity p.P423P(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TTCACATGTGGGCTTCTCGTT 0.448000 72 54 0 0 0.003610 0 0 KCNK1 3775 broad.mit.edu 37 1 233802489 233802489 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:233802489C>T uc010pxo.1 + 1 672 c.504C>T c.(502-504)ttC>ttT p.F168F NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 168 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCCTCTACTTCCACATCCGCT 0.607000 31 7 0 0 0.001984 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407957 75407957 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:75407957C>T uc001jut.4 - 3 1605 c.1453G>A c.(1453-1455)Gtt>Att p.V485I SYNPO2L_uc001jus.4_Missense_Mutation_p.V261I NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA. 485 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CGGAAAATAACCGAGGTGGTA 0.657000 9 5 0 0 0.001168 0 0 FAM169A 26049 broad.mit.edu 37 5 74078872 74078872 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:74078872C>T uc003kdm.3 - 11 1391 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K FAM169A_uc010izm.3_Missense_Mutation_p.E390K|FAM169A_uc003kdl.3_Missense_Mutation_p.E268K NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 450 Asp/Glu-rich. breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TCTAAAACTTCACTAGTGGAG 0.393000 47 12 0 0 0.000978 0 0 C10orf88 80007 broad.mit.edu 37 10 124711492 124711492 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:124711492G>A uc001lgw.2 - 2 644 c.419C>T c.(418-420)tCc>tTc p.S140F C10orf88_uc001lgx.2_Missense_Mutation_p.S42F NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA. 140 p.S140F(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) AGCATGTGTGGAGGACTCCAA 0.254000 19 10 0 0 0.000978 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352526 51352526 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:51352526C>T uc001wys.3 + 6 590 c.575C>T c.(574-576)aCt>aTt p.T192I ABHD12B_uc001wyr.3_Missense_Mutation_p.T115I|ABHD12B_uc001wyq.3_Missense_Mutation_p.T85I|ABHD12B_uc010any.3_Intron NM_001206673 NP_001193602 Q7Z5M8 AB12B_HUMAN Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA. 192 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) GAGGGACTGACTACGGATGCC 0.517000 74 20 0 0 0.002299 0 0 BICD2 23299 broad.mit.edu 37 9 95480163 95480163 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:95480163G>A uc004asp.1 - 5 2231 c.2174C>T c.(2173-2175)aCc>aTc p.T725I BICD2_uc004aso.1_Missense_Mutation_p.T725I NM_001003800 NP_001003800 Q8TD16 BICD2_HUMAN Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA. 725 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTTCATCATGGTCTCGGTAAC 0.562000 41 24 0 0 0.003954 0 0 ZNF536 9745 broad.mit.edu 37 19 31039973 31039973 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:31039973C>T uc002nsu.1 + 3 3585 c.3447C>T c.(3445-3447)atC>atT p.I1149I ZNF536_uc010edd.1_Silent_p.I1149I NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCATCCTGATCCCCGAAACCA 0.552000 18 22 0 0 0.002299 0 0 CLCA4 22802 broad.mit.edu 37 1 87045096 87045096 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:87045096G>A uc009wcs.3 + 12 2226 c.2182G>A c.(2182-2184)Gag>Aag p.E728K CLCA4_uc009wct.3_Missense_Mutation_p.E491K|CLCA4_uc009wcu.3_Missense_Mutation_p.E548K NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA. 728 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GACCACCTTGGAGGATTTCAG 0.468000 26 14 0 0 0.002450 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773447 145773447 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:145773447C>T uc003zds.1 - 5 1578 c.1023G>A c.(1021-1023)caG>caA p.Q341Q ARHGAP39_uc011llk.1_Silent_p.Q341Q|ARHGAP39_uc003zdt.1_Silent_p.Q341Q NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 341 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GAGAGCCGGCCTGGTAGCCCC 0.701000 11 9 0 0 0.004482 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342499 40342499 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:40342499C>T uc002rrx.3 - 9 2840 c.2816G>A c.(2815-2817)gGg>gAg p.G939E LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.G934E|SLC8A1_uc002rsb.2_Missense_Mutation_p.G931E|SLC8A1_uc002rrz.3_Missense_Mutation_p.G926E|SLC8A1_uc002rsa.3_Missense_Mutation_p.G903E|SLC8A1_uc002rsd.4_Missense_Mutation_p.G903E NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 939 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTCCGGGGCCCACCCAGCTC 0.537000 9 25 0 0 0.007291 0 0 BPHL 670 broad.mit.edu 37 6 3137651 3137651 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:3137651C>T uc003mva.3 + 4 637 c.588C>T c.(586-588)ctC>ctT p.L196L BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_Silent_p.L179L NM_004332 NP_004323 Q86WA6 BPHL_HUMAN Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA. 196 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) TAGAAGCCCTCTATGGGTATG 0.438000 79 46 0 0 0.002522 0 0 USH1G 124590 broad.mit.edu 37 17 72916142 72916143 + Missense_Mutation DNP AT GA GA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:72916142_72916143AT>GA uc002jme.1 - 1 971_972 c.788_789AT>TC c.(787-789)aat>aTC p.N263I USH1G_uc010wro.1_Missense_Mutation_p.N160I NM_173477 NP_775748 Q495M9 USH1G_HUMAN Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA. 263 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) ACTCCTTGGGATTGGCGTAGGT 0.698000 28 17 0 0 0.004672 0 0 PTPN11 5781 broad.mit.edu 37 12 112910775 112910775 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:112910775C>T uc001ttx.3 + 6 1164 c.784C>T c.(784-786)Ctc>Ttc p.L262F PTPN11_uc001ttw.1_Missense_Mutation_p.L262F NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 262 Tyrosine-protein phosphatase. T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 GTGCAAACTTCTCTACAGCCG 0.363000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 96 38 0 0 0.008740 0 0 HTR4 3360 broad.mit.edu 37 5 147928263 147928263 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:147928263C>T uc021yfj.1 - 2 368 c.321G>A c.(319-321)tcG>tcA p.S107S HTR4_uc021yfg.1_Silent_p.S107S|HTR4_uc021yfh.1_Silent_p.S107S|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.S107S|HTR4_uc011dby.1_Silent_p.S107S|HTR4_uc003lpn.3_Silent_p.S107S|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.S107S NM_001040173 NP_001035263 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA. 107 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity p.A106T(1) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GGTGAAAAATCGATGCCGTTG 0.488000 1 4 0 0 0.001168 0 0 CCDC60 160777 broad.mit.edu 37 12 119968833 119968833 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:119968833G>A uc001txe.3 + 12 1981 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 506 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GAGGATTTGGGAACTGTGCTC 0.502000 31 10 0 0 0.008291 0 0 EYA2 2139 broad.mit.edu 37 20 45702837 45702837 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:45702837C>T uc002xsm.3 + 6 898 c.524C>T c.(523-525)cCc>cTc p.P175L EYA2_uc010ghp.3_Missense_Mutation_p.P175L|EYA2_uc002xsq.3_Missense_Mutation_p.P175L NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 175 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) AGCCAGTACCCCCAGTATTAC 0.592000 30 27 0 0 0.007291 0 0 OR2G2 81470 broad.mit.edu 37 1 247752097 247752097 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:247752097G>A uc010pyy.2 + 0 436 c.436G>A c.(436-438)Gcc>Acc p.A146T NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTCTGCATGGCCTTGGCATC 0.567000 61 56 0 0 0.003610 0 0 STEAP3 55240 broad.mit.edu 37 2 120003549 120003549 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:120003549G>A uc002tlp.3 + 2 634 c.477G>A c.(475-477)agG>agA p.R159R STEAP3_uc002tlq.3_Silent_p.R169R|STEAP3_uc002tlr.3_Silent_p.R159R|STEAP3_uc010fle.3_Silent_p.R159R NM_018234 NP_060704 Q658P3 STEA3_HUMAN Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA. 159 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding p.R159M(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CTGGCCCAAGGGATGGTAACA 0.502000 41 13 0 0 0.004990 0 0 C15orf2 23742 broad.mit.edu 37 15 24923506 24923506 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:24923506C>T uc001ywo.3 + 0 2966 c.2492C>T c.(2491-2493)tCc>tTc p.S831F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 831 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACCCCTCCTTCCAAAACTGTC 0.498000 55 51 0 0 0.003610 0 0 SYT4 6860 broad.mit.edu 37 18 40853613 40853613 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:40853613G>A uc002law.3 - 1 1150 c.781C>T c.(781-783)Ctc>Ttc p.L261F SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.L243F NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 261 Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 ATTCCCGAGAGAGGAATTAGA 0.338000 12 23 0 0 0.003330 0 0 FRG2B 441581 broad.mit.edu 37 10 135440242 135440242 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:135440242C>T uc010qvg.2 - 0 58 c.5G>A c.(4-6)gGa>gAa p.G2E NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 2 nucleus p.M1I(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ATTTCCCTTTCCCATGTTGAA 0.532000 133 18 0 0 0.007291 0 0 ABCC1 4363 broad.mit.edu 37 16 16177228 16177228 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:16177228C>T uc010bvi.3 + 16 2296 c.2121C>T c.(2119-2121)tcC>tcT p.S707S ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Silent_p.S707S|ABCC1_uc010bvl.3_Silent_p.S707S|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Silent_p.S591S NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 707 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.S707F(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CTTAGGGCTCCGTGGCCTATG 0.527000 27 15 0 0 0.007413 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540473 94540473 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:94540473A>G uc003unp.3 + 1 1330 c.1048A>G c.(1048-1050)Aat>Gat p.N350D PPP1R9A_uc010lfj.3_Missense_Mutation_p.N350D|PPP1R9A_uc011kif.2_Missense_Mutation_p.N350D|PPP1R9A_uc003unq.3_Missense_Mutation_p.N350D|PPP1R9A_uc011kig.2_Missense_Mutation_p.N350D NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA. 350 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TGCTGAAGCTAATTTGGTTGG 0.458000 HNSCC(28;0.073) 30 20 0 0 0.008871 0 0 WIPF1 7456 broad.mit.edu 37 2 175436895 175436896 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:175436895_175436896GG>AA uc002uiz.3 - 4 737_738 c.637_638CC>TT c.(637-639)ccc>TTc p.P213F BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P213F|WIPF1_uc010fqt.1_Missense_Mutation_p.P213F|WIPF1_uc002ujc.1_Missense_Mutation_p.P213F|WIPF1_uc002ujb.2_Missense_Mutation_p.P213F|WIPF1_uc010zep.1_Missense_Mutation_p.P213F NM_003387 NP_003378 O43516 WIPF1_HUMAN Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA. 213 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CCCGGGGCTGGGCTGCCTGGGG 0.639000 11 23 0 0 0.004672 0 0 UNC79 57578 broad.mit.edu 37 14 94046585 94046585 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94046585C>T uc001ybv.1 + 15 2076 c.1993C>T c.(1993-1995)Ccc>Tcc p.P665S UNC79_uc001ybs.1_Missense_Mutation_p.P665S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 842 integral to membrane p.I654_H670del(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTTCCAAGCCCCCTGGGGGGG 0.443000 32 35 0 0 0.006230 0 0 CPPED1 55313 broad.mit.edu 37 16 12798701 12798701 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:12798701G>A uc002dca.4 - 2 606 c.495C>T c.(493-495)tcC>tcT p.S165S CPPED1_uc002dcb.4_Intron NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA. 165 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CGTAGAACTGGGAGTTGAGGA 0.637000 14 21 0 0 0.008871 0 0 CPVL 54504 broad.mit.edu 37 7 29160545 29160545 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:29160545G>A uc003szv.3 - 1 252 c.133C>T c.(133-135)Ctc>Ttc p.L45F CPVL_uc003szw.3_Missense_Mutation_p.L45F|CPVL_uc003szx.3_Missense_Mutation_p.L45F NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA. 45 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TAAGGGGTGAGAAATAATGGC 0.438000 34 34 0 0 0.007835 0 0 RFWD2 64326 broad.mit.edu 37 1 176132980 176132980 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:176132980A>G uc001gku.1 - 3 869 c.613T>C c.(613-615)Ttc>Ctc p.F205L RFWD2_uc001gkv.1_Missense_Mutation_p.F205L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Missense_Mutation_p.F64L NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA. 205 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R204M(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCCAATTTGAACCTCTTTTCC 0.269000 26 22 0 0 0.008361 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968738 62968738 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:62968738G>A uc002jez.3 - 3 c.593C>T AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA. AACACAGAAGGCATCTTCAGG 0.353000 29 71 0 0 0.003610 0 0 COG5 10466 broad.mit.edu 37 7 106964934 106964934 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:106964934C>T uc003vec.2 - 10 1677 c.1152G>A c.(1150-1152)tgG>tgA p.W384* COG5_uc003ved.2_Nonsense_Mutation_p.W384*|COG5_uc003vee.2_Nonsense_Mutation_p.W384* NM_006348 NP_006339 Q9UP83 COG5_HUMAN Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA. 384 intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TAACTGAATTCCAAAATGTGT 0.254000 45 47 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14851399 14851399 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:14851399C>T uc003zlm.3 - 6 1851 c.1035G>A c.(1033-1035)gtG>gtA p.V345V FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 345 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACAGGTGAGTCACATAGCCCT 0.498000 2 26 0 0 0.003954 0 0 MUC2 4583 broad.mit.edu 37 11 1097741 1097741 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:1097741C>T uc001lsx.1 + 37 6849 c.6822C>T c.(6820-6822)atC>atT p.I2274I NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4640 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCGGGGAGATCGTCTCCAACT 0.642000 14 8 0 0 0.004482 0 0 PLOD1 5351 broad.mit.edu 37 1 12032952 12032952 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:12032952C>T uc010obb.2 + 18 2180 c.2067C>T c.(2065-2067)gtC>gtT p.V689V PLOD1_uc001atm.3_Silent_p.V642V NM_000302 NP_000293 Q02809 PLOD1_HUMAN Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA. 642 Fe2OG dioxygenase. epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) TGGCCTTTGTCGTCCGCTACA 0.577000 16 25 0 0 0.004656 0 0 AQPEP 206338 broad.mit.edu 37 5 115298969 115298969 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:115298969G>A uc003kro.3 + 0 819 c.655G>A c.(655-657)Gga>Aga p.G219R AQPEP_uc003krp.3_Non-coding_Transcript|AX747550_uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 219 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CCTCAGGGAGGGACTCTTCCT 0.647000 8 3 0 0 0.000602 0 0 COL5A1 1289 broad.mit.edu 37 9 137620602 137620602 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:137620602C>T uc004cfe.3 + 5 1255 c.873C>T c.(871-873)acC>acT p.T291T NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 291 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGAGCCCACCCCCAGCAAGA 0.607000 39 32 0 0 0.004289 0 0 WEE2 494551 broad.mit.edu 37 7 141420792 141420792 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:141420792G>A uc003vwn.2 + 4 1222 c.816G>A c.(814-816)gtG>gtA p.V272V FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 272 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) ACCCCCATGTGGTACGTTACT 0.408000 55 56 0 0 0.003610 0 0 KCNA6 3742 broad.mit.edu 37 12 4920380 4920380 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:4920380C>T uc001qng.3 + 0 2039 c.1173C>T c.(1171-1173)tcC>tcT p.S391S KCNA6_uc021qtr.1_Silent_p.S391S NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 391 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TCCTCTTCTCCAGTGCCGTCT 0.572000 HNSCC(72;0.22) 27 24 0 0 0.008361 0 0 DNAH10 196385 broad.mit.edu 37 12 124409633 124409633 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:124409633C>T uc001uft.4 + 66 11474 c.11449C>T c.(11449-11451)Ccc>Tcc p.P3817S DNAH10_uc001ufu.4_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3817 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) GTTTCCCGTCCCCTTGGGTTA 0.473000 18 13 0 0 0.001855 0 0 NFKB1 4790 broad.mit.edu 37 4 103459047 103459047 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:103459047C>T uc011ceq.2 + 4 656 c.189C>T c.(187-189)ggC>ggT p.G63G NFKB1_uc011cep.2_Silent_p.G64G NM_001165412 NP_001158884 P19838 NFKB1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA. 63 RHD. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TATGTGAAGGCCCATCCCATG 0.398000 61 13 0 0 0.003163 0 0 CREBBP 1387 broad.mit.edu 37 16 3819272 3819272 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:3819272G>A uc002cvv.3 - 14 3167 c.2963C>T c.(2962-2964)cCa>cTa p.P988L CREBBP_uc002cvw.3_Missense_Mutation_p.P950L NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 988 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTCAGGTCCTGGCTGCTGGGA 0.572000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 26 23 0 0 0.002299 0 0 ASTN1 460 broad.mit.edu 37 1 176863960 176863960 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:176863960G>A uc001glc.3 - 16 2890 c.2678C>T c.(2677-2679)tCc>tTc p.S893F ASTN1_uc001glb.1_Missense_Mutation_p.S893F|ASTN1_uc001gld.1_Missense_Mutation_p.S893F NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 901 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 ATCTGATGGGGAGTTGCCTGC 0.517000 34 29 0 0 0.002445 0 0 C17orf67 339210 broad.mit.edu 37 17 54892252 54892252 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:54892252C>T uc010dci.3 - 1 334 c.206G>A c.(205-207)gGa>gAa p.G69E C17orf67_uc002iuq.3_Non-coding_Transcript NM_001085430 NP_001078899 Q0P5P2 CQ067_HUMAN Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA. 69 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) ATCGGGGAATCCGGGTTTGCT 0.498000 373 122 0 0 0.003610 0 0 HHIP 64399 broad.mit.edu 37 4 145579946 145579946 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:145579946C>T uc003ijs.2 + 2 1157 c.477C>T c.(475-477)ttC>ttT p.F159F HHIP_uc003ijr.2_Silent_p.F159F NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 159 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TTAAAGGTTTCCTTCAAACAA 0.343000 80 21 0 0 0.001882 0 0 C3orf26 84319 broad.mit.edu 37 3 99886587 99886587 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:99886587C>T uc003dtl.3 + 5 567 c.421C>T c.(421-423)Cct>Tct p.P141S C3orf26_uc021xbt.1_Missense_Mutation_p.P123S NM_032359 NP_115735 Q9BQ75 CC026_HUMAN Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA. 141 ATP binding|ATP-dependent helicase activity|nucleic acid binding large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2) 14 TCCAGTTTGTCCTAAGTGGGT 0.423000 71 23 0 0 0.004656 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038253 16038253 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:16038253C>T uc002nbu.2 - 3 420 c.384G>A c.(382-384)ctG>ctA p.L128L CYP4F11_uc010eab.1_Silent_p.L128L|CYP4F11_uc002nbt.2_Silent_p.L128L NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 128 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GCCAGGGCTTCAGGAAGCCAT 0.532000 84 83 0 0 0.003610 0 0 PSG7 5676 broad.mit.edu 37 19 43429951 43429951 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:43429951G>A uc002ovl.4 - 5 1316 c.1214C>T c.(1213-1215)tCc>tTc p.S405F PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.S284F NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 406 Ig-like C2-type 3. female pregnancy extracellular region Prostate(69;0.00682) CACGGATTTGGAGCTTTCCTT 0.473000 42 144 0 0 0.003610 0 0 REEP1 65055 broad.mit.edu 37 2 86509330 86509330 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:86509330G>A uc021vke.1 - 1 96 c.89C>T c.(88-90)tCc>tTc p.S30F REEP1_uc002srh.4_Missense_Mutation_p.S23F|REEP1_uc010yth.2_Intron|REEP1_uc010yti.2_Missense_Mutation_p.S23F|REEP1_uc010ytg.2_5'UTR NM_001164730 NP_001158202 Q9H902 REEP1_HUMAN Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 23 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 AGCCTTGTAGGAATAATACGC 0.393000 37 83 0 0 0.003610 0 0 NOX5 79400 broad.mit.edu 37 15 69325617 69325617 + Splice_Site SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:69325617G>T uc002ars.2 + 5 896 c.855_splice c.e5+1 p.A285_splice MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Splice_Site_p.A239_splice|NOX5_uc002arp.2_Splice_Site_p.A267_splice|NOX5_uc010bid.2_Splice_Site_p.A250_splice|NOX5_uc010bie.2_Splice_Site_p.A85_splice|NOX5_uc002arr.2_Splice_Site_p.A257_splice|NOX5_uc010bif.2_Splice_Site NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 285 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GCTTCATCGCGGTAGGCTCTG 0.637000 3 5 0.00116845 0.00159772 0.001168 1 0 OR11H4 390442 broad.mit.edu 37 14 20711059 20711059 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20711059C>T uc010tld.2 + 0 109 c.109C>T c.(109-111)Ctc>Ttc p.L37F NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TCAGATTTTCCTCTTCTCATT 0.443000 29 7 0 0 0.001984 0 0 SLC5A8 160728 broad.mit.edu 37 12 101555850 101555850 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:101555850G>A uc001thz.4 - 12 1922 c.1532C>T c.(1531-1533)cCa>cTa p.P511L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 511 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATCCATCAGTGGAGTCCTAAG 0.378000 28 82 0 0 0.003610 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102469167 102469167 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:102469167C>T uc001yks.2 + 22 4912 c.4748C>T c.(4747-4749)tCc>tTc p.S1583F NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 1583 Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AAAAAAGTGTCCAAGTCTCCC 0.443000 47 12 0 0 0.001855 0 0 KIAA1244 57221 broad.mit.edu 37 6 138645205 138645205 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:138645205G>A uc003qhu.3 + 30 5086 c.4915G>A c.(4915-4917)Gaa>Aaa p.E1639K NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1639 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTTCAGCGGGGAAGGCTGCCA 0.672000 32 18 0 0 0.001523 0 0 MC2R 4158 broad.mit.edu 37 18 13885095 13885095 + Silent SNP G A A rs149161443 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:13885095G>A uc002ksp.1 - 1 600 c.423C>T c.(421-423)atC>atT p.I141I MC2R_uc021uhs.1_Silent_p.I141I NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 141 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) GCATGGTCACGATGCTGTGGT 0.582000 20 12 0 0 0.000978 0 0 DMXL2 23312 broad.mit.edu 37 15 51742485 51742485 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:51742485G>A uc010ufy.2 - 41 8970 c.8745C>T c.(8743-8745)ctC>ctT p.L2915L DMXL2_uc002abd.3_Silent_p.L1006L|DMXL2_uc002abf.3_Silent_p.L2914L|DMXL2_uc010bfa.3_Silent_p.L2278L|DMXL2_uc002abc.3_Non-coding_Transcript NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 2914 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CCGAGATTAGGAGTTGCTGTT 0.473000 70 18 0 0 0.001523 0 0 RP1L1 94137 broad.mit.edu 37 8 10469369 10469369 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:10469369C>T uc003wtc.3 - 3 2468 c.2239G>A c.(2239-2241)Gat>Aat p.D747N NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 747 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GAAACAAAATCCGAGTGGACT 0.652000 19 17 0 0 0.006122 0 0 GGTLC2 91227 broad.mit.edu 37 22 22989341 22989341 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:22989341C>T uc010gts.2 + 1 328 c.294C>T c.(292-294)ttC>ttT p.F98F abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Silent_p.F98F NM_199127 NP_954578 Q14390 GGTL2_HUMAN Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA. 98 glutathione biosynthetic process gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23) READ - Rectum adenocarcinoma(21;0.145) CTGCCAATTTCATCCAGCCAG 0.612000 54 42 0 0 0.003610 0 0 HECW1 23072 broad.mit.edu 37 7 43484077 43484077 + Nonsense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:43484077G>T uc003tid.1 + 10 1911 c.1306G>T c.(1306-1308)Gaa>Taa p.E436* HECW1_uc011kbi.1_Nonsense_Mutation_p.E436* NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 436 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TGTGGGACCTGAAGGGGCTGG 0.622000 5 6 0.00198382 0.00270897 0.001984 1 0 FAM169A 26049 broad.mit.edu 37 5 74078955 74078955 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:74078955G>A uc003kdm.3 - 11 1308 c.1265C>T c.(1264-1266)tCt>tTt p.S422F FAM169A_uc010izm.3_Missense_Mutation_p.S362F|FAM169A_uc003kdl.3_Missense_Mutation_p.S240F NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 422 Asp/Glu-rich. breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 CTCTAATTCAGATTCCTACAC 0.403000 18 41 0 0 0.003214 0 0 FLG2 388698 broad.mit.edu 37 1 152327430 152327430 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152327430C>T uc001ezw.4 - 2 2905 c.2832G>A c.(2830-2832)caG>caA p.Q944Q AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 944 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCCAAAAGTCTGTCCTGAAC 0.493000 259 85 0 0 0.003610 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518560 113518560 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:113518560C>T uc010ljy.1 - 3 2618 c.2587G>A c.(2587-2589)Gat>Aat p.D863N NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 863 glycogen metabolic process integral to membrane p.D863Y(2) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AACTGTAAATCCAGTTTTGAA 0.378000 77 24 0 0 0.002780 0 0 MATN1 4146 broad.mit.edu 37 1 31194579 31194579 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:31194579C>T uc001brz.3 - 1 148 c.114G>A c.(112-114)cgG>cgA p.R38R LOC100129196_uc001bsb.1_Intron NM_002379 NP_002370 P21941 MATN1_HUMAN Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA. 38 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) GGTCTGTGGGCCGCGTCCGGC 0.597000 10 16 0 0 0.004990 0 0 MMP27 64066 broad.mit.edu 37 11 102567566 102567566 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:102567566C>T uc001phd.1 - 5 643 c.620_splice c.e5-1 p.G207_splice NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 207 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CAAGTTGAATCCTTGATAATA 0.403000 18 7 0 0 0.001984 0 0 AXDND1 126859 broad.mit.edu 37 1 179497510 179497510 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:179497510G>A uc001gmo.3 + 22 3046 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E771K|AXDND1_uc009wxh.3_Non-coding_Transcript NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 887 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ATTCATTGGAGAAGATGAAAA 0.413000 11 17 0 0 0.001882 0 0 CACNA1D 776 broad.mit.edu 37 3 53694254 53694254 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:53694254C>T uc003dgv.4 + 4 881 c.718C>T c.(718-720)Cgt>Tgt p.R240C CACNA1D_uc003dgu.4_Missense_Mutation_p.R240C|CACNA1D_uc003dgy.4_Missense_Mutation_p.R240C NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 240 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.L239L(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CAAAGCCCTCCGTGCCTTTCG 0.458000 23 19 0 0 0.006122 0 0 CDK18 5129 broad.mit.edu 37 1 205499796 205499796 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:205499796G>A uc001hcr.3 + 14 1705 c.1443G>A c.(1441-1443)aaG>aaA p.K481K CDK18_uc001hcp.3_Silent_p.K451K|CDK18_uc001hcq.3_Silent_p.K451K|CDK18_uc010prj.2_Silent_p.K362K|CDK18_uc001hcs.3_Silent_p.K362K NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 449 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 AGCTCCAGAAGGACCCAGGCT 0.622000 20 4 0 0 0.000602 0 0 GABRE 2564 broad.mit.edu 37 X 151124224 151124224 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:151124224G>A uc004ffi.3 - 6 947 c.893C>T c.(892-894)tCc>tTc p.S298F GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 298 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GATCCAAAAGGAAACCCAGGA 0.512000 1 45 0 0 0.003610 0 0 HACE1 57531 broad.mit.edu 37 6 105198315 105198315 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:105198315T>C uc003pqu.1 - 19 2521 c.2244A>G c.(2242-2244)cgA>cgG p.R748R HACE1_uc010kcy.1_Silent_p.R230R|HACE1_uc010kcz.1_Silent_p.R533R|HACE1_uc010kcx.1_Silent_p.R157R|HACE1_uc003pqt.1_Silent_p.R401R NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. 748 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) CTCTTGTCATTCGAAGTTCAG 0.358000 16 20 0 0 0.003954 0 0 GDF2 2658 broad.mit.edu 37 10 48416399 48416399 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:48416399C>T uc001jfa.1 - 0 455 c.295G>A c.(295-297)Gat>Aat p.D99N NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 99 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTCGACTTATCGGACGTGTAC 0.587000 36 10 0 0 0.000978 0 0 ZNF138 7697 broad.mit.edu 37 7 64291928 64291928 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:64291928A>C uc011kdq.2 + 2 406 c.230A>C c.(229-231)aAg>aCg p.K77T ZNF138_uc003ttg.3_Missense_Mutation_p.K46T|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.K71T|ZNF138_uc011kdp.2_3'UTR NM_006524 NP_006515 B4DP87 B4DP87_HUMAN Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA. 77 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) TATGGACATAAGAATTTACAG 0.383000 38 30 0 0 0.007291 0 0 MAN2C1 4123 broad.mit.edu 37 15 75648297 75648297 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:75648297G>A uc002bah.3 - 25 3141 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S MIR631_uc021sqo.1_5'Flank|MAN2C1_uc010bkk.3_Missense_Mutation_p.P926S|MAN2C1_uc002baf.3_Missense_Mutation_p.P1025S|MAN2C1_uc002bag.3_Missense_Mutation_p.P1002S Q9NTJ4 MA2C1_HUMAN Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA. 1025 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding p.P1025S(1) central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 ACTTGGAAGGGAGAAAAGGTG 0.582000 12 4 0 0 0.000602 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515704 70515704 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:70515704G>A uc001xly.3 - 6 2941 c.2187C>T c.(2185-2187)gaC>gaT p.D729D SLC8A3_uc001xlv.3_Silent_p.D100D|SLC8A3_uc001xlu.3_Silent_p.D86D|SLC8A3_uc001xlw.3_Silent_p.D726D|SLC8A3_uc001xlx.3_Silent_p.D727D|SLC8A3_uc001xlz.3_Silent_p.D723D|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.D86D NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 729 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GCATGACGTAGTCAAAGCAGG 0.572000 14 14 0 0 0.002450 0 0 AIM1 202 broad.mit.edu 37 6 107003731 107003731 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:107003731C>T uc003prh.3 + 14 5362 c.4450C>T c.(4450-4452)Ccg>Tcg p.P1484S AIM1_uc003pri.3_Missense_Mutation_p.P288S NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 1484 Beta/gamma crystallin 'Greek key' 10. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AATGGGATGCCCGCCTGGAGC 0.408000 50 49 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14748456 14748456 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:14748456G>A uc003zlm.3 - 31 6555 c.5739C>T c.(5737-5739)ggC>ggT p.G1913G FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.G449G NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1913 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAGAATCAAAGCCCCGCAGGG 0.483000 10 12 0 0 0.000978 0 0 ARMC4 55130 broad.mit.edu 37 10 28233806 28233806 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:28233806C>T uc009xky.3 - 10 1570 c.1472G>A c.(1471-1473)aGa>aAa p.R491K ARMC4_uc010qds.2_Missense_Mutation_p.R16K|ARMC4_uc010qdt.2_Missense_Mutation_p.R183K|ARMC4_uc001itz.3_Missense_Mutation_p.R491K|ARMC4_uc010qdu.1_Missense_Mutation_p.R183K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 491 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCCAACATCTCTGATGGCCAA 0.458000 56 8 0 0 0.003080 0 0 PRR3 80742 broad.mit.edu 37 6 30525943 30525943 + Silent SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:30525943G>T uc003nqi.2 + 1 759 c.123G>T c.(121-123)ctG>ctT p.L41L GNL1_uc011dmi.2_5'Flank|GNL1_uc011dmj.2_5'Flank|GNL1_uc011dmk.2_5'Flank|GNL1_uc003nqh.3_5'Flank|PRR3_uc003nqj.2_Intron NM_025263 NP_079539 P79522 PRR3_HUMAN Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA. 41 Pro-rich. nucleic acid binding|zinc ion binding lung(1)|ovary(1) 2 CCAGCCTTCTGGGCCCTCCCC 0.483000 65 12 0.000151284 0.000207525 0.001855 1 0 XPNPEP1 7511 broad.mit.edu 37 10 111642289 111642289 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:111642289G>A uc001kyp.2 - 9 1062 c.942C>T c.(940-942)atC>atT p.I314I XPNPEP1_uc009xxt.2_Silent_p.I314I|XPNPEP1_uc001kyq.2_Silent_p.I200I|XPNPEP1_uc010qrb.2_Silent_p.I314I|XPNPEP1_uc010qra.1_Silent_p.I38I NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA. 271 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) GCTCGCTCAGGATGGACTTGT 0.582000 36 12 0 0 0.001368 0 0 OR5R1 219479 broad.mit.edu 37 11 56185123 56185123 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:56185123C>T uc010rji.2 - 0 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ATCAGAATTTCCTTCATGTGT 0.433000 34 17 0 0 0.004007 0 0 CBWD6 644019 broad.mit.edu 37 9 69256871 69256871 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:69256871G>A uc004afj.4 - 2 366 c.260C>T c.(259-261)tCc>tTc p.S87F CBWD6_uc004afk.4_Non-coding_Transcript|CBWD6_uc011lrf.2_Non-coding_Transcript|CBWD6_uc004afl.3_Missense_Mutation_p.S87F NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN Homo sapiens COBW domain containing 6 (CBWD6), mRNA. 87 ATP binding lung(4) 4 GACAGCTAAGGATTTCTCCAG 0.398000 50 75 0 0 0.003610 0 0 FARSA 2193 broad.mit.edu 37 19 13041248 13041248 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:13041248G>A uc002mvs.2 - 2 427 c.379C>T c.(379-381)Cga>Tga p.R127* FARSA_uc010xmv.1_Nonsense_Mutation_p.R127* NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 127 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CGCACCACTCGGAACACCCGG 0.642000 48 18 0 0 0.001882 0 0 C11orf9 745 broad.mit.edu 37 11 61539013 61539013 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:61539013C>T uc001nsc.1 + 5 878 c.782C>T c.(781-783)tCc>tTc p.S261F C11orf9_uc001nse.1_Missense_Mutation_p.S252F NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA. 261 Pro-rich. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.S255fs*74(1) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1) 29 CACTCTGAATCCCCCCCCAGC 0.637000 22 32 0 0 0.004289 0 0 PEG3 5178 broad.mit.edu 37 19 57328838 57328838 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:57328838G>A uc002qnu.2 - 6 1323 c.972C>T c.(970-972)cgC>cgT p.R324R PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.R295R|PEG3_uc002qnv.2_Silent_p.R324R|PEG3_uc002qnw.2_Silent_p.R200R|PEG3_uc002qnx.2_Silent_p.R198R|PEG3_uc010etr.2_Silent_p.R324R NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 324 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATTTGGAACTGCGTGACACAT 0.473000 15 40 0 0 0.006999 0 0 TPTE2P3 220115 broad.mit.edu 37 13 53096902 53096902 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:53096902G>A uc001vgw.3 + 10 c.1279G>A Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA. TTTTCTCATGGATGTTCTTCT 0.338000 17 19 0 0 0.003330 0 0 ATP13A4 84239 broad.mit.edu 37 3 193232645 193232645 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:193232645G>A uc003ftd.3 - 1 184 c.76C>T c.(76-78)Cgg>Tgg p.R26W ATP13A4_uc003fte.1_Missense_Mutation_p.R26W|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 26 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.R26W(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCTTGAGTCCGATAGCCAAAT 0.418000 28 23 0 0 0.005443 0 0 DDX60 55601 broad.mit.edu 37 4 169189085 169189085 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:169189085C>T uc003irp.3 - 20 3128 c.2836G>A c.(2836-2838)Gaa>Aaa p.E946K NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 946 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GTATTATTTTCAATTATTTTG 0.353000 38 40 0 0 0.006999 0 0 OR4X1 390113 broad.mit.edu 37 11 48286156 48286156 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:48286156C>T uc010rht.2 + 0 744 c.744C>T c.(742-744)ttC>ttT p.F248F NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCGACCTGTTCTTCATACCTT 0.507000 5 47 0 0 0.003610 0 0 ZNF516 9658 broad.mit.edu 37 18 74092172 74092172 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:74092172T>A uc021ulp.1 - 3 2216 c.1898A>T c.(1897-1899)aAc>aTc p.N633I ZNF516_uc002lmd.3_Non-coding_Transcript NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 633 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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) TTCCGAGGCGTTATCTCCCAT 0.562000 32 16 0 0 0.006122 0 0 EYA2 2139 broad.mit.edu 37 20 45809551 45809551 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:45809551C>T uc002xsm.3 + 13 1776 c.1402C>T c.(1402-1404)Cct>Tct p.P468S EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Missense_Mutation_p.P438S NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 468 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GTCTGTGTTTCCTATTGAGAA 0.537000 44 18 0 0 0.007413 0 0 OR5P3 120066 broad.mit.edu 37 11 7846984 7846984 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:7846984C>G uc010rbg.2 - 0 536 c.536G>C c.(535-537)tGt>tCt p.C179S NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGAATAGTCACAGAAAAAGTG 0.413000 17 25 0 0 0.006320 0 0 SIK3 23387 broad.mit.edu 37 11 116729300 116729301 + Missense_Mutation DNP CC AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:116729300_116729301CC>AA uc001ppy.3 - 19 2598_2599 c.2562_2563GG>TT c.(2560-2565)gtgggg>gtTTgg p.G855W SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Missense_Mutation_p.G158W NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 855 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGAGAGAACCCCACTCCTGTTG 0.594000 151 9 0 0 0.004672 0 0 KIAA1468 57614 broad.mit.edu 37 18 59954692 59954692 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:59954692C>T uc002lil.3 + 25 3577 c.3362C>T c.(3361-3363)tCc>tTc p.S1121F KIAA1468_uc010xel.2_Missense_Mutation_p.S1121F|KIAA1468_uc002lim.3_Missense_Mutation_p.S799F NM_020854 NP_065905 Q9P260 K1468_HUMAN Homo sapiens KIAA1468 (KIAA1468), mRNA. 1121 binding p.L1120L(1) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) AGTGCACTTTCCTGTTGTTGT 0.358000 39 22 0 0 0.004656 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197375 26197376 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:26197375_26197376CC>TT uc003ngv.3 - 1 500_501 c.103_104GG>AA c.(103-105)ggc>AAc p.G35N HIST1H3D_uc021ymt.1_Missense_Mutation_p.G35N|HIST1H2BF_uc003ngx.3_5'Flank NM_003530 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3d (HIST1H3D), mRNA. 35 S phase|blood coagulation|nucleosome assembly|regulation of gene silencing nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) CTTCTTCACGCCGCCGGTGGCT 0.653000 46 17 0 0 0.004672 0 0 OR1L8 138881 broad.mit.edu 37 9 125329963 125329963 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:125329963G>A uc004bmp.1 - 0 794 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGCGTAGGTGGATGGGGGCTG 0.458000 34 13 0 0 0.003163 0 0 SLC27A2 11001 broad.mit.edu 37 15 50474704 50474704 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:50474704T>A uc001zxw.3 + 0 312 c.80T>A c.(79-81)tTc>tAc p.F27Y SLC27A2_uc010bes.3_Missense_Mutation_p.F27Y NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 27 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CCATACTTCTTCCAGGACATA 0.662000 12 6 0 0 0.003080 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4393215 4393215 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:4393215C>G uc002cwf.3 - 27 3293 c.2850G>C c.(2848-2850)gaG>gaC p.E950D CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwd.3_Missense_Mutation_p.E27D NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. TACCTGCAAACTCCTGCCGCA 0.637000 16 7 0 0 0.003080 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432954 73432954 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:73432954C>T uc003dpl.1 - 9 2859 c.2763G>A c.(2761-2763)tgG>tgA p.W921* PDZRN3_uc011bgh.1_Nonsense_Mutation_p.W578*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.W619*|PDZRN3_uc021xaq.1_Nonsense_Mutation_p.W214*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.W638*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.W641* NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 921 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCTTCACCTTCCACTCCATGC 0.662000 24 10 0 0 0.001368 0 0 ARMC3 219681 broad.mit.edu 37 10 23235172 23235172 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:23235172T>A uc001irm.4 + 2 231 c.148T>A c.(148-150)Tat>Aat p.Y50N ARMC3_uc010qcv.2_Missense_Mutation_p.Y50N|ARMC3_uc010qcw.2_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA. 50 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGAAGCCATTTATAAATTTGC 0.313000 89 17 0 0 0.006122 0 0 ERF 2077 broad.mit.edu 37 19 42752989 42752989 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:42752989G>A uc002ote.4 - 3 1433 c.1275C>T c.(1273-1275)atC>atT p.I425I ERF_uc002otd.4_Silent_p.I156I NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 425 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GCTCCACCTTGATCTGTGGTG 0.662000 69 17 0 0 0.008871 0 0 DBC1 1620 broad.mit.edu 37 9 121929706 121929706 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:121929706A>G uc004bkc.2 - 7 2398 c.1942T>C c.(1942-1944)Ttc>Ctc p.F648L NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 648 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TTGATGTAGAACTGCCTCTTG 0.577000 60 53 0 0 0.003610 0 0 BHMT2 23743 broad.mit.edu 37 5 78379596 78379596 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:78379596G>A uc003kft.3 + 6 986 c.927G>A c.(925-927)agG>agA p.R309R BHMT2_uc011cth.2_Silent_p.R245R NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA. 309 methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) CCCCAGAAAGGGGCTTTTTGC 0.527000 16 4 0 0 0.000602 0 0 RELL2 285613 broad.mit.edu 37 5 141019180 141019180 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:141019180C>T uc003lli.3 + 4 1315 c.467C>T c.(466-468)cCc>cTc p.P156L HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.3_Missense_Mutation_p.P156L|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR NM_001130029 NP_776189 Q8NC24 RELL2_HUMAN Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA. 156 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAGCCGCCCCCGGACAGGG 0.647000 18 4 0 0 0.000248 0 0 TMC1 117531 broad.mit.edu 37 9 75309495 75309495 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:75309495G>A uc004aiz.1 + 6 641 c.101G>A c.(100-102)cGa>cAa p.R34Q TMC1_uc010moz.1_Missense_Mutation_p.R34Q|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_5'UTR|TMC1_uc010mpa.1_5'UTR NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 34 Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 AAGCTACCTCGAAGAGAGAGC 0.448000 11 11 0 0 0.001855 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18658279 18658279 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:18658279C>T uc001rdt.3 + 22 3200 c.3084C>T c.(3082-3084)atC>atT p.I1028I PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.I1069I|PIK3C2G_uc010sic.2_Silent_p.I847I NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1028 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TAACATTCATCCTGGGAGTAT 0.383000 12 8 0 0 0.004482 0 0 EXPH5 23086 broad.mit.edu 37 11 108381835 108381835 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:108381835G>A uc001pkk.3 - 5 4510 c.4399C>T c.(4399-4401)Cac>Tac p.H1467Y EXPH5_uc010rvz.2_Missense_Mutation_p.H1311Y|EXPH5_uc010rvy.2_Missense_Mutation_p.H1279Y NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1467 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTGGATGTGTGATCTTTCTGG 0.458000 1 12 0 0 0.000978 0 0 OSGIN1 29948 broad.mit.edu 37 16 83992977 83992977 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:83992977C>T uc002fha.3 + 3 429 c.429C>T c.(427-429)gcC>gcT p.A143A OSGIN1_uc002fhb.3_Silent_p.A60A|OSGIN1_uc002fhc.3_Silent_p.A60A NM_182981 NP_892026 Q9UJX0 OSGI1_HUMAN Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA. 143 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 TCACCGAGGCCCCGGGGGTCT 0.627000 11 5 0 0 0.001984 0 0 CDH19 28513 broad.mit.edu 37 18 64235912 64235912 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:64235912G>A uc002lkc.1 - 2 369 c.231C>T c.(229-231)ttC>ttT p.F77F CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.F77F|CDH19_uc002lkd.3_Silent_p.F77F NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 77 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) GCTTGTACTGGAAAGAATTGT 0.373000 30 16 0 0 0.003163 0 0 ZNF679 168417 broad.mit.edu 37 7 63720599 63720599 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:63720599G>A uc003tsx.3 + 3 309 c.40_splice c.e3-1 p.G14_splice NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TGTTTTTCAGGGACTGTTGAC 0.383000 33 12 0 0 0.000978 0 0 KCND2 3751 broad.mit.edu 37 7 120381675 120381675 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:120381675C>T uc003vjj.1 + 2 2331 c.1366C>T c.(1366-1368)Cag>Tag p.Q456* NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 456 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) ACTCAGTAATCAGCTGCAGGT 0.363000 18 21 0 0 0.001523 0 0 EXD3 54932 broad.mit.edu 37 9 140242540 140242540 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:140242540G>A uc004cmp.2 - 16 2177 c.1981C>T c.(1981-1983)Cac>Tac p.H661Y EXD3_uc010ncf.1_Missense_Mutation_p.H312Y|EXD3_uc004cmq.1_Non-coding_Transcript NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA. 661 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 GCCCTGCGGTGGTCTTCACCA 0.647000 8 9 0 0 0.000978 0 0 SIRPD 128646 broad.mit.edu 37 20 1532558 1532558 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:1532558C>T uc002wfi.3 - 1 244 c.200G>A c.(199-201)gGa>gAa p.G67E NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 67 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 TGGCCCTGTTCCCTTGAACCA 0.448000 34 26 0 0 0.003330 0 0 CCKAR 886 broad.mit.edu 37 4 26484868 26484868 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:26484868C>T uc003gse.1 - 3 817 c.664G>A c.(664-666)Gga>Aga p.G222R NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 222 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) ATCACAATTCCAGGAATAAGA 0.383000 92 29 0 0 0.006320 0 0 ASMT 438 broad.mit.edu 37 X 1742086 1742086 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:1742086G>A uc004cqd.3 + 2 340 c.124G>A c.(124-126)Ggg>Agg p.G42R ASMT_uc010ncy.3_Missense_Mutation_p.G42R|ASMT_uc004cqe.3_Missense_Mutation_p.G42R NM_004043 NP_004034 P46597 HIOM_HUMAN Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA. 42 melatonin biosynthetic process|translation cytosol S-methyltransferase activity|acetylserotonin O-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) CGAGGCCCCAGGGCCCCTGGA 0.642000 20 28 0 0 0.006320 0 0 WNT5A 7474 broad.mit.edu 37 3 55504313 55504313 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:55504313G>A uc003dhn.3 - 4 1268 c.950C>T c.(949-951)tCg>tTg p.S317L WNT5A_uc003dhm.3_Missense_Mutation_p.S302L|WNT5A_uc010hmw.3_Missense_Mutation_p.S302L|WNT5A_uc010hmx.3_Missense_Mutation_p.S228L NM_003392 NP_003383 P41221 WNT5A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA. 317 Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CGTGCCCAGCGAGCCGGTGCT 0.627000 20 26 0 0 0.006320 0 0 SMARCB1 6598 broad.mit.edu 37 22 24167501 24167501 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:24167501G>A uc002zyd.3 + 6 1119 c.912G>A c.(910-912)ctG>ctA p.L304L SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Silent_p.L295L|SMARCB1_uc002zyc.3_Silent_p.L286L 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. 295 2 X approximate tandem repeats.|Interaction with PPP1R15A. 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.?(6)|p.L266_*386del(1) 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) AGTTTGCCCTGAAGCTGTGCT 0.552000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 32 31 0 0 0.002836 0 0 SLC7A2 6542 broad.mit.edu 37 8 17415852 17415852 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:17415852C>T uc011kye.2 + 7 1412 c.1364C>T c.(1363-1365)tCc>tTc p.S455F SLC7A2_uc011kyc.2_Missense_Mutation_p.S415F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S454F NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 415 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GACATGATGTCCATTGGCACA 0.527000 48 25 0 0 0.003954 0 0 ATP10D 57205 broad.mit.edu 37 4 47570864 47570864 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:47570864G>A uc003gxk.1 + 15 3028 c.2864G>A c.(2863-2865)gGg>gAg p.G955E ATP10D_uc003gxl.1_Missense_Mutation_p.G203E NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 955 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GATGCCTGTGGGATGCTGATG 0.443000 34 9 0 0 0.000978 0 0 CPAMD8 27151 broad.mit.edu 37 19 17056472 17056472 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:17056472C>T uc002nfb.3 - 21 2853 c.2821G>A c.(2821-2823)Gga>Aga p.G941R NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 894 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TTTGTGTCTCCGTAAGCAAGG 0.567000 49 14 0 0 0.002450 0 0 CNTN5 53942 broad.mit.edu 37 11 99715827 99715827 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:99715827G>A uc001pga.3 + 5 914 c.410G>A c.(409-411)cGa>cAa p.R137Q CNTN5_uc009ywv.2_Missense_Mutation_p.R137Q|CNTN5_uc001pfz.3_Missense_Mutation_p.R137Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R137Q|CNTN5_uc021qpc.1_Missense_Mutation_p.R63Q NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 137 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding p.R137Q(2)|p.R137L(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGATGGCTTCGAAATGGAACA 0.353000 42 12 0 0 0.000978 0 0 LZTR1 8216 broad.mit.edu 37 22 21344752 21344752 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:21344752C>A uc002zto.3 + 7 832 c.729C>A c.(727-729)ttC>ttA p.F243L LZTR1_uc002ztn.3_Missense_Mutation_p.F202L|LZTR1_uc011ahy.2_Missense_Mutation_p.F224L|LZTR1_uc010gsr.1_Missense_Mutation_p.F114L NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 243 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGTTTGTATTCTCTGGGCAAA 0.567000 32 27 5.45727e-16 7.55834e-16 0.008361 1 0 KCND3 3752 broad.mit.edu 37 1 112524433 112524433 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:112524433C>T uc001ebu.1 - 1 1396 c.916G>A c.(916-918)Ggc>Agc p.G306S KCND3_uc001ebv.1_Missense_Mutation_p.G306S NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 306 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) ATCCGCAGGCCCTGGGAGTGG 0.582000 20 4 0 0 0.003080 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20890040 20890040 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:20890040G>A uc010sii.2 + 12 1738 c.1383_splice c.e12-1 p.G461_splice SLCO1C1_uc010sij.2_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.3_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.3_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.2_Splice_Site_p.G343_splice NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 461 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TTTCTTTTCAGAACCAAACCT 0.338000 38 11 0 0 0.001368 0 0 abParts 0 broad.mit.edu 37 14 106757778 106757778 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:106757778C>T uc021ser.1 - 749 c.19600G>A Parts of antibodies, mostly variable regions. TAGGATTTTTCGTCATTCGAA 0.532000 44 41 0 0 0.006999 0 0 SLFN13 146857 broad.mit.edu 37 17 33772415 33772415 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:33772415G>A uc002hjk.1 - 0 615 c.285C>T c.(283-285)ttC>ttT p.F95F SLFN13_uc010wch.1_Silent_p.F95F|SLFN13_uc002hjl.2_Silent_p.F95F|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 95 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TAGTCTCAAAGAAAGCCTGCA 0.403000 27 36 0 0 0.005524 0 0 OTOA 146183 broad.mit.edu 37 16 21698771 21698771 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:21698771G>A uc002djh.3 + 6 438 c.437G>A c.(436-438)cGa>cAa p.R146Q LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R67Q NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 146 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GGAGAGATTCGAGAACGAGCC 0.522000 39 34 0 0 0.006999 0 0 C12orf42 374470 broad.mit.edu 37 12 103762703 103762703 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:103762703G>A uc001tjt.2 - 3 309 c.221C>T c.(220-222)tCt>tTt p.S74F C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.S74F|C12orf42_uc001tju.2_5'UTR NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 74 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AAATTTAGGAGATTCAGAGAA 0.363000 5 10 0 0 0.001368 0 0 URB2 9816 broad.mit.edu 37 1 229771705 229771705 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:229771705C>T uc001hts.1 + 3 1481 c.1345C>T c.(1345-1347)Cag>Tag p.Q449* URB2_uc009xfd.1_Nonsense_Mutation_p.Q449* NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 449 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CAAAAAAGCCCAGGAGGCGCT 0.502000 49 40 0 0 0.002522 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618201 77618201 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:77618201G>T uc003yau.2 + 1 2265 c.1878G>T c.(1876-1878)agG>agT p.R626S ZFHX4_uc003yat.1_Missense_Mutation_p.R626S|ZFHX4_uc003yaw.1_Missense_Mutation_p.R626S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 626 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S625L(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGTCTTCGAGGTCTCTTGGTG 0.532000 HNSCC(33;0.089) 20 14 7.93312e-07 1.09121e-06 0.002450 1 0 TRIM32 22954 broad.mit.edu 37 9 119461313 119461313 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:119461313C>T uc022bmo.1 + 0 1292 c.1292C>T c.(1291-1293)cCt>cTt p.P431L ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.P431L|TRIM32_uc004bjx.2_Missense_Mutation_p.P431L NM_012210 NP_036342 Q13049 TRI32_HUMAN Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA. 431 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor nucleus RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 AACCTCACTCCTCTCTCAGTG 0.522000 81 89 0 0 0.003610 0 0 ALOX5 240 broad.mit.edu 37 10 45938946 45938946 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:45938946G>A uc001jce.3 + 10 1633 c.1534G>A c.(1534-1536)Gat>Aat p.D512N ALOX5_uc009xmt.3_Missense_Mutation_p.D480N|ALOX5_uc010qfg.2_Missense_Mutation_p.D512N|ALOX5_uc021ppr.1_Missense_Mutation_p.R452Q NM_000698 NP_000689 P09917 LOX5_HUMAN Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA. 512 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CTTCGTGAACGATGTCTACGT 0.687000 15 6 0 0 0.004482 0 0 KLHL6 89857 broad.mit.edu 37 3 183209743 183209743 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:183209743C>T uc003flr.3 - 6 1896 c.1838G>A c.(1837-1839)aGg>aAg p.R613K KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA. 613 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GGGCACGATCCTGCGGATGTG 0.672000 28 13 0 0 0.002450 0 0 SPATA16 83893 broad.mit.edu 37 3 172642058 172642058 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:172642058C>T uc003fin.4 - 7 1462 c.1278G>A c.(1276-1278)atG>atA p.M426I NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 426 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) CCATTGTCTCCATTTGCCTCA 0.338000 46 21 0 0 0.003954 0 0 DISP2 85455 broad.mit.edu 37 15 40659789 40659789 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:40659789C>T uc001zlk.1 + 7 1565 c.1476C>T c.(1474-1476)ccC>ccT p.P492P NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 492 SSD. smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CGGTGTACCCCTTGCTGGCTC 0.622000 38 36 0 0 0.004289 0 0 ZNF193 7746 broad.mit.edu 37 6 28194891 28194891 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:28194891C>T uc010jqz.2 + 1 218 c.29C>T c.(28-30)tCc>tTc p.S10F ZNF193_uc003nkr.2_Missense_Mutation_p.S10F|ZNF193_uc003nkq.2_Missense_Mutation_p.S10F NM_001199479 NP_001186408 O15535 ZN193_HUMAN Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA. 10 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|lung(5)|prostate(1) 8 GAGGTTTTATCCCTGGGTGTT 0.463000 42 7 0 0 0.004482 0 0 UMODL1 89766 broad.mit.edu 37 21 43508581 43508581 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:43508581C>T uc002zag.1 + 4 781 c.781C>T c.(781-783)Cag>Tag p.Q261* UMODL1_uc002zad.1_Nonsense_Mutation_p.Q189*|UMODL1_uc002zae.1_Nonsense_Mutation_p.Q189*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.Q261*|UMODL1_uc010gow.1_Nonsense_Mutation_p.Q53*|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Nonsense_Mutation_p.Q53* NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 261 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GATCAGCGTCCAGGTGCAAGG 0.612000 13 9 0 0 0.008291 0 0 DSG3 1830 broad.mit.edu 37 18 29044212 29044212 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:29044212G>A uc002kws.3 + 8 1247 c.1138G>A c.(1138-1140)Gga>Aga p.G380R NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 380 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.G380E(1)|p.E379*(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTAAGAGAAGGAATTGCATT 0.388000 28 14 0 0 0.002450 0 0 OSGIN1 29948 broad.mit.edu 37 16 83998800 83998800 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:83998800C>G uc002fha.3 + 6 871 c.871C>G c.(871-873)Ccc>Gcc p.P291A OSGIN1_uc002fhb.3_Missense_Mutation_p.P208A|OSGIN1_uc002fhc.3_Missense_Mutation_p.P208A NM_182981 NP_892026 Q9UJX0 OSGI1_HUMAN Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA. 291 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GACCCCCGATCCCAGCAGCTG 0.642000 16 27 0 0 0.007291 0 0 TRPM6 140803 broad.mit.edu 37 9 77377950 77377950 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:77377950C>T uc004ajl.1 - 25 3875 c.3637G>A c.(3637-3639)Gat>Aat p.D1213N TRPM6_uc004ajk.1_Missense_Mutation_p.D1208N|TRPM6_uc022bib.1_Missense_Mutation_p.D1208N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D169N NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1213 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.Q1212*(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCAGAGAGATCCTGCAGGTGT 0.468000 26 36 0 0 0.004289 0 0 ALPL 249 broad.mit.edu 37 1 21887146 21887146 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:21887146G>A uc001bet.3 + 2 346 c.89G>A c.(88-90)cGa>cAa p.R30Q ALPL_uc010odo.2_5'UTR|ALPL_uc010odp.2_5'UTR|ALPL_uc010odn.2_5'UTR|ALPL_uc001beu.4_Missense_Mutation_p.R30Q NM_000478 NP_001120973 P05186 PPBT_HUMAN Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. 30 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AAGTACTGGCGAGACCAAGCG 0.517000 26 14 0 0 0.002450 0 0 IGFN1 91156 broad.mit.edu 37 1 201195037 201195037 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:201195037G>T uc001gwc.3 + 21 10702 c.10572G>T c.(10570-10572)gaG>gaT p.E3524D IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTCCTGACGAGGCCCAGGATG 0.682000 5 7 2.0095e-06 2.76283e-06 0.001984 1 0 C2orf40 84417 broad.mit.edu 37 2 106688311 106688311 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:106688311G>A uc010fjf.3 + 1 199 c.91G>A c.(91-93)Gga>Aga p.G31R NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA. 31 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 TGGCATAAGTGGAAATAAACT 0.358000 13 4 0 0 0.000248 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421195 62421195 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:62421195G>A uc002ygv.2 - 1 1117 c.916C>T c.(916-918)Ccg>Tcg p.P306S ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTGCTGAACGGCCACCCCGAC 0.642000 33 41 0 0 0.003610 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092606 50092607 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:50092606_50092607CC>TT uc001wws.4 - 2 2248_2249 c.2167_2168GG>AA c.(2167-2169)ggt>AAt p.G723N NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.G675N NM_018139 NP_060609 Q9NVR5 KTU_HUMAN Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA. 723 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TGTAACTAAACCAAAGCTATCT 0.322000 33 21 0 0 0.004672 0 0 RANBP10 57610 broad.mit.edu 37 16 67763906 67763906 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:67763906G>A uc002eud.3 - 7 1049 c.933C>T c.(931-933)atC>atT p.I311I RANBP10_uc010ceo.3_Silent_p.I82I|RANBP10_uc010vju.2_Silent_p.I255I|RANBP10_uc010vjv.2_Silent_p.I194I|RANBP10_uc010vjw.1_5'UTR NM_020850 NP_065901 Q6VN20 RBP10_HUMAN Homo sapiens RAN binding protein 10 (RANBP10), mRNA. 311 CTLH. endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GGGTGGTCTCGATGGCCTCGC 0.632000 19 14 0 0 0.003163 0 0 ZNF99 7652 broad.mit.edu 37 19 22941109 22941109 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:22941109C>T uc021urt.1 - 3 1757 c.1602G>A c.(1600-1602)aaG>aaA p.K534K NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTAGGGTTTCTTTCCAGTAT 0.338000 32 26 0 0 0.001786 0 0 MCTP1 79772 broad.mit.edu 37 5 94248651 94248651 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:94248651G>A uc003kkx.2 - 8 1381 c.1381C>T c.(1381-1383)Cta>Tta p.L461L MCTP1_uc003kkv.2_Silent_p.L240L|MCTP1_uc003kkw.2_Silent_p.L194L|MCTP1_uc003kkz.2_Silent_p.L122L|MCTP1_uc003kku.2_5'UTR NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 461 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TTTCTGTGTAGGTCTGATAGG 0.428000 24 63 0 0 0.003610 0 0 GPR161 23432 broad.mit.edu 37 1 168073859 168073859 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:168073859G>A uc010pln.2 - 2 824 c.290C>T c.(289-291)tCc>tTc p.S97F GPR161_uc001gfb.3_Intron|GPR161_uc001gfc.3_Missense_Mutation_p.S77F|GPR161_uc010pll.2_Intron|GPR161_uc010plm.2_Intron|GPR161_uc009wvo.3_Missense_Mutation_p.S94F|GPR161_uc001gfd.3_Missense_Mutation_p.S77F|GPR161_uc001gfe.1_Missense_Mutation_p.S77F NM_153832 NP_722561 Q8N6U8 GP161_HUMAN Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA. 77 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CACCAACACGGACAGCAGGAA 0.537000 50 14 0 0 0.003163 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322453 79322453 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:79322453C>T uc010mpk.3 - 7 4861 c.4737G>A c.(4735-4737)caG>caA p.Q1579Q PRUNE2_uc022bih.1_Silent_p.Q1401Q NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1579 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTGGTGATTCTGTTCACTCC 0.408000 29 37 0 0 0.004878 0 0 DNAH10 196385 broad.mit.edu 37 12 124399040 124399040 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:124399040C>T uc001uft.4 + 59 10188 c.10163C>T c.(10162-10164)cCc>cTc p.P3388L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3388 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) CGGGAGATCCCCCTGAGCCAG 0.592000 16 4 0 0 0.001168 0 0 SYT12 91683 broad.mit.edu 37 11 66807475 66807475 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:66807475C>T uc009yrl.3 + 3 652 c.422C>T c.(421-423)tCc>tTc p.S141F SYT12_uc001oju.3_Missense_Mutation_p.S141F NM_001177880 NP_808878 Q8IV01 SYT12_HUMAN Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA. 141 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 AACTCCATCTCCTCCGTGAGC 0.632000 26 13 0 0 0.001368 0 0 METTL22 79091 broad.mit.edu 37 16 8738530 8738530 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:8738530C>T uc002cyz.3 + 9 1403 c.1127C>T c.(1126-1128)cCc>cTc p.P376L METTL22_uc021tcq.1_Non-coding_Transcript|BX537921_uc002czb.3_5'Flank NM_024109 NP_077014 Q9BUU2 MET22_HUMAN Homo sapiens methyltransferase like 22 (METTL22), mRNA. 376 methyltransferase activity large_intestine(5)|lung(4) 9 GTGGTGGAGCCCGTGGAGGCC 0.617000 41 21 0 0 0.001523 0 0 C19orf57 79173 broad.mit.edu 37 19 14006359 14006359 + Splice_Site SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:14006359C>A uc002mxl.1 - 3 91 c.32_splice c.e3-1 p.G11_splice C19orf57_uc002mxk.1_5'Flank NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 11 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAGTCCCTCTCCTGTTTTAGA 0.547000 57 18 1.50039e-11 2.07138e-11 0.001882 1 0 INPP5J 27124 broad.mit.edu 37 22 31529413 31529413 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:31529413G>A uc003aju.4 + 10 2445 c.2353G>A c.(2353-2355)Gac>Aac p.D785N INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Missense_Mutation_p.D417N|INPP5J_uc003ajv.4_Missense_Mutation_p.D418N|INPP5J_uc003ajs.4_Missense_Mutation_p.D418N|INPP5J_uc011alk.2_Missense_Mutation_p.D718N|INPP5J_uc010gwg.3_Missense_Mutation_p.D350N NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA. 785 Required for ruffle localization (By similarity). cytoplasm|ruffle SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CCATTGCAAGGACTATGTGGC 0.502000 12 11 0 0 0.002450 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066428 70066428 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:70066428C>T uc003heh.3 - 5 1329 c.1320G>A c.(1318-1320)gaG>gaA p.E440E AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 440 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCATAATATTCTCTTTATATC 0.348000 44 37 0 0 0.006230 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140187042 140187042 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140187042C>T uc003lhi.2 + 0 371 c.270C>T c.(268-270)atC>atT p.I90I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.I90I|PCDHAC2_uc011daa.2_Silent_p.I90I NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 105 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGGGAGG 0.622000 49 22 0 0 0.002780 0 0 CD248 57124 broad.mit.edu 37 11 66082377 66082377 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:66082377C>A uc001ohm.1 - 0 2139 c.2122G>T c.(2122-2124)Gtg>Ttg p.V708L NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 708 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GTGCAGTACACGATGCCCAGT 0.602000 7 5 0.00116845 0.00159772 0.001168 1 0 ZBBX 79740 broad.mit.edu 37 3 167039934 167039934 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:167039934C>T uc011bpc.2 - 11 1291 c.954G>A c.(952-954)atG>atA p.M318I ZBBX_uc003feq.3_Missense_Mutation_p.M289I|ZBBX_uc003fep.3_Missense_Mutation_p.M318I NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 318 intracellular zinc ion binding p.M318V(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATAATTTTTCCATATAGGATA 0.289000 31 28 0 0 0.008361 0 0 PUS1 80324 broad.mit.edu 37 12 132426450 132426450 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:132426450C>T uc001ujf.3 + 4 1613 c.1158C>T c.(1156-1158)tcC>tcT p.S386S PUS1_uc001ujg.3_Silent_p.S358S|PUS1_uc001ujh.3_Silent_p.S358S|PUS1_uc001uji.3_Silent_p.S333S NM_025215 NP_001002020 Q9Y606 TRUA_HUMAN Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA. 386 mitochondrion RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) ACGAACGCTCCATGGCCCAGT 0.642000 16 8 0 0 0.003080 0 0 GPR115 221393 broad.mit.edu 37 6 47682098 47682098 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:47682098G>A uc003oyz.1 + 6 1288 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K GPR115_uc003oza.1_Missense_Mutation_p.E373K|GPR115_uc003ozb.1_Missense_Mutation_p.E373K|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 373 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TATCAGGAACGAAGTGAAATG 0.473000 20 23 0 0 0.001882 0 0 ZBBX 79740 broad.mit.edu 37 3 167031835 167031835 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:167031835G>A uc011bpc.2 - 15 1681 c.1344C>T c.(1342-1344)ttC>ttT p.F448F ZBBX_uc003feq.3_Silent_p.F419F|ZBBX_uc003fep.3_Silent_p.F448F NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 448 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTCCCTTATCGAAAACATGAT 0.313000 111 33 0 0 0.002836 0 0 RNF8 9025 broad.mit.edu 37 6 37342423 37342423 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:37342423C>T uc003onq.4 + 4 1259 c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C RNF8_uc003onr.4_Missense_Mutation_p.R356C|RNF8_uc011dtx.2_Missense_Mutation_p.R288C NM_003958 NP_003949 O76064 RNF8_HUMAN Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA. 356 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 AGAGCTAAATCGCAGCAAGAA 0.403000 23 7 0 0 0.008291 0 0 GRM3 2913 broad.mit.edu 37 7 86416163 86416163 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:86416163G>A uc003uid.3 + 2 2154 c.1055G>A c.(1054-1056)cGg>cAg p.R352Q GRM3_uc010lef.3_Missense_Mutation_p.R350Q|GRM3_uc010leg.3_Missense_Mutation_p.R224Q|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 352 synaptic transmission integral to plasma membrane p.R352L(2)|p.R352Q(2)|p.R352W(1)|p.R352R(1) 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) CCCTGGTTCCGGGACTTCTGG 0.612000 21 7 0 0 0.001984 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838513 43838513 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:43838513C>T uc002zbe.3 + 6 925 c.841C>T c.(841-843)Ctg>Ttg p.L281L UBASH3A_uc002zbf.3_Silent_p.L243L|UBASH3A_uc010gpe.3_Silent_p.L243L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 281 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 TTTCTAGACCCTGAGAGCCCT 0.517000 64 42 0 0 0.003214 0 0 OR10J3 441911 broad.mit.edu 37 1 159283943 159283943 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:159283943G>A uc010piu.2 - 0 507 c.507C>T c.(505-507)ttC>ttT p.F169F NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F169F(2) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AGGCATCACAGAATGGCAGGC 0.502000 18 20 0 0 0.008871 0 0 FLT4 2324 broad.mit.edu 37 5 180055994 180055994 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:180055994G>A uc003mlz.4 - 7 1070 c.991C>T c.(991-993)Ccc>Tcc p.P331S FLT4_uc003mma.4_Missense_Mutation_p.P331S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.P331S|FLT4_uc011dgz.1_Silent_p.I274I NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 331 Ig-like C2-type 4. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTGATGAAGGGATTTTCTGCC 0.652000 26 6 0 0 0.001168 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540152 169540152 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:169540152G>A uc003fgb.3 + 0 443 c.443G>A c.(442-444)gGa>gAa p.G148E NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 148 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GAGCTGCTCGGACTGACCGGA 0.537000 23 27 0 0 0.003954 0 0 FBXO43 286151 broad.mit.edu 37 8 101146277 101146277 + Splice_Site SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:101146277A>G uc003yjd.3 - 5 2615 c.1879_splice c.e5-1 p.V627_splice FBXO43_uc003yje.3_Splice_Site_p.V593_splice NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 627 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TGTTTTGGCAACCTGCAGTGA 0.383000 58 13 0 0 0.002450 0 0 ZNF24 7572 broad.mit.edu 37 18 32917642 32917642 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:32917642T>A uc002kyt.2 - 3 818 c.661A>T c.(661-663)Atg>Ttg p.M221L ZNF24_uc002kys.2_Missense_Mutation_p.M221L NM_006965 NP_008896 P17028 ZNF24_HUMAN Homo sapiens zinc finger protein 24 (ZNF24), mRNA. 221 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 GGAACACCCATATTGAGAGTG 0.408000 30 70 0 0 0.003610 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471587 61471587 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:61471587G>A uc002ljl.3 + 7 957 c.861G>A c.(859-861)atG>atA p.M287I SERPINB7_uc002ljm.3_Missense_Mutation_p.M287I|SERPINB7_uc010xet.2_Missense_Mutation_p.M270I|SERPINB7_uc010dqg.3_Missense_Mutation_p.M287I NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 287 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATTATGAAATGAAACAATATT 0.398000 22 7 0 0 0.003080 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570822 47570822 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:47570822G>A uc002pga.4 - 14 2741 c.2703C>T c.(2701-2703)ccC>ccT p.P901P ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 901 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGCTGCCTTCGGGCTTGGAGG 0.701000 6 16 0 0 0.004007 0 0 OVOS2 0 broad.mit.edu 37 12 31311878 31311878 + Silent SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:31311878A>G uc010sjy.1 - 4 552 c.552T>C c.(550-552)atT>atC p.I184I RecName: Full=Ovostatin homolog 2; Flags: Precursor; all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTTTCACAACAATCCAGTAAT 0.373000 144 111 0 0 0.003610 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100552 39100553 + Missense_Mutation DNP GG AA AA rs140049352 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:39100552_39100553GG>AA uc002oix.1 - 11 1031_1032 c.923_924CC>TT c.(922-924)ccc>cTT p.P308L MAP4K1_uc002oiy.1_Missense_Mutation_p.P308L|MAP4K1_uc010xug.2_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA. 308 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTCTCACCTCGGGCTCCTCATC 0.589000 41 11 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179579723 179579723 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179579723G>A uc021vsy.1 - 86 22683 c.22458C>T c.(22456-22458)atC>atT p.I7486I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I4147I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8413 Ig-like 57. 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) CTTTGAGAGCGATGGAACCAA 0.473000 70 34 0 0 0.004289 0 0 PSMC5 5705 broad.mit.edu 37 17 61907655 61907655 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61907655C>T uc002jcb.3 + 5 427 c.346C>T c.(346-348)Cta>Tta p.L116L FTSJ3_uc002jca.3_5'Flank|PSMC5_uc010ddy.3_Silent_p.L93L|PSMC5_uc002jcd.3_Silent_p.L108L NM_002805 NP_002796 P62195 PRS8_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA. 116 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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 CCGGGTGGCTCTAAGGAATGA 0.517000 44 20 0 0 0.003330 0 0 NKAIN2 154215 broad.mit.edu 37 6 125139535 125139535 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:125139535G>A uc003pzo.3 + 5 815 c.538G>A c.(538-540)Gat>Aat p.D180N NKAIN2_uc010keq.3_Missense_Mutation_p.D113N|NKAIN2_uc003pzp.3_Missense_Mutation_p.D179N|NKAIN2_uc010ker.3_Missense_Mutation_p.D90N NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA. 180 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) CTTTTCAGTTGATTTCATAGG 0.348000 41 10 0 0 0.001368 0 0 VWA3B 200403 broad.mit.edu 37 2 98928408 98928408 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:98928408C>T uc002syo.3 + 26 3912 c.3648C>T c.(3646-3648)ctC>ctT p.L1216L VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.L873L|VWA3B_uc002syp.1_Silent_p.L608L|VWA3B_uc002syq.1_Silent_p.L492L|VWA3B_uc002syr.1_Silent_p.L533L|VWA3B_uc002sys.3_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 1216 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGCAGCCACTCCAGCAGGCGG 0.642000 1 4 0 0 0.000248 0 0 UGT1A1 54658 broad.mit.edu 37 2 234581143 234581143 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:234581143C>T uc002vus.3 + 0 600 c.563C>T c.(562-564)tCc>tTc p.S188F UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.S188F NM_021027 NP_066307 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA. 191 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCTCCTCTTTCCTATGTCCCC 0.473000 54 82 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100682585 100682585 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100682585G>A uc003uxp.1 + 2 7941 c.7888G>A c.(7888-7890)Gaa>Aaa p.E2630K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2630 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTAGTGAAGTAAGTAC 0.458000 170 149 0 0 0.003610 0 0 ROBO2 6092 broad.mit.edu 37 3 77147229 77147229 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:77147229C>T uc011bgk.2 + 1 769 c.126C>T c.(124-126)gtC>gtT p.V42V ROBO2_uc021xat.1_Silent_p.V58V|ROBO2_uc003dpy.4_Silent_p.V42V|ROBO2_uc003dpz.3_Silent_p.V42V|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 42 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V42I(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATGTCATCGTCTCTAAGGGCG 0.557000 7 8 0 0 0.006214 0 0 CALB1 793 broad.mit.edu 37 8 91081394 91081394 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:91081394C>T uc003yel.1 - 3 485 c.303G>A c.(301-303)gaG>gaA p.E101E CALB1_uc011lge.1_Silent_p.E44E NM_004929 NP_004920 P05937 CALB1_HUMAN Homo sapiens calbindin 1, 28kDa (CALB1), mRNA. 101 EF-hand 3. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TCATGAATTCCTCACAGGACT 0.388000 56 10 0 0 0.008291 0 0 FAM47C 442444 broad.mit.edu 37 X 37027926 37027926 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:37027926G>A uc004ddl.2 + 0 1495 c.1443G>A c.(1441-1443)aaG>aaA p.K481K NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 481 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CTCCAGAGAAGGACGTATCTC 0.632000 2 42 0 0 0.007835 0 0 NPY1R 4886 broad.mit.edu 37 4 164247564 164247564 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:164247564C>T uc003iqm.2 - 1 608 c.143G>A c.(142-144)gGa>gAa p.G48E NPY1R_uc021xtv.1_Missense_Mutation_p.G48E|NPY1R_uc011cjj.2_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 48 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.G48V(2) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GATCACAGCTCCATAAGCAAG 0.408000 51 21 0 0 0.002299 0 0 CNTN5 53942 broad.mit.edu 37 11 100211914 100211914 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:100211914G>A uc001pga.3 + 22 3511 c.3007G>A c.(3007-3009)Gaa>Aaa p.E1003K CNTN5_uc021qpb.1_Missense_Mutation_p.E1003K|CNTN5_uc021qpc.1_Missense_Mutation_p.E929K|CNTN5_uc010ruk.2_Missense_Mutation_p.E274K NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 1003 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATTAGCCAACGAATCTGAAGT 0.433000 86 25 0 0 0.003954 0 0 TCEA2 6919 broad.mit.edu 37 20 62699471 62699471 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:62699471G>A uc021wgq.1 + 3 969 c.313G>A c.(313-315)Gag>Aag p.E105K TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.E78K|TCEA2_uc010gku.2_Intron NM_003195 NP_942016 Q15560 TCEA2_HUMAN Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA. 105 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GGATGCCTCAGAGGCCCCGGA 0.622000 10 7 0 0 0.003080 0 0 SKAP1 8631 broad.mit.edu 37 17 46474139 46474139 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:46474139C>T uc002ini.1 - 1 167 c.55G>A c.(55-57)Gag>Aag p.E19K SKAP1_uc002inj.1_Missense_Mutation_p.E19K|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.E19K NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA. 19 T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|plasma membrane SH2 domain binding|antigen binding|protein kinase binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 GCCAGAAACTCTTCAGCATCT 0.403000 138 37 0 0 0.002852 0 0 SIRT5 23408 broad.mit.edu 37 6 13612093 13612093 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:13612093C>T uc003nay.3 + 9 1241 c.929C>T c.(928-930)tCt>tTt p.S310F SIRT5_uc003nax.3_Missense_Mutation_p.S202F|SIRT5_uc011dit.2_Missense_Mutation_p.S292F NM_012241 NP_001229756 Q9NXA8 SIRT5_HUMAN Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA. 310 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GAAACTGTTTCTTAAGTGTCC 0.438000 187 66 0 0 0.003610 0 0 CSMD1 64478 broad.mit.edu 37 8 2832092 2832092 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:2832092A>C uc022aqr.1 - 55 9011 c.8621T>G c.(8620-8622)cTg>cGg p.L2874R CSMD1_uc011kwj.2_Missense_Mutation_p.L2204R|CSMD1_uc010lrg.3_Missense_Mutation_p.L885R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2875 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATAGGTAAACAGCTCTCCAGT 0.537000 11 4 0 0 0.000248 0 0 OR13C2 392376 broad.mit.edu 37 9 107367878 107367878 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:107367878C>T uc011lvq.2 - 0 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AGAAAAAATTCCACCAGAATG 0.373000 25 24 0 0 0.005443 0 0 PCDH10 57575 broad.mit.edu 37 4 134073511 134073511 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:134073511G>A uc003iha.3 + 0 3042 c.2216G>A c.(2215-2217)cGt>cAt p.R739H PCDH10_uc003igz.3_Missense_Mutation_p.R739H NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 739 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V738L(1)|p.V738G(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTGGCCGTGCGTTGCCAAAAA 0.597000 36 12 0 0 0.004990 0 0 TPTE 7179 broad.mit.edu 37 21 10951345 10951345 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:10951345G>A uc002yip.1 - 9 735 c.367C>T c.(367-369)Cct>Tct p.P123S TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105S|TPTE_uc002yir.1_Missense_Mutation_p.P85S|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 123 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.M121_D122>IY(1) 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) TACTCCAAAGGAATATAAAGT 0.323000 141 37 0 0 0.005524 0 0 C19orf45 374877 broad.mit.edu 37 19 7573214 7573215 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:7573214_7573215GG>AA uc002mgm.2 + 8 1557_1558 c.1416_1417GG>AA c.(1414-1419)gagggc>gaAAgc p.G473S NM_198534 NP_940936 Q8NA69 CS045_HUMAN Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA. 473 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 ATCCTCAGGAGGGCTTCGTGCC 0.599000 16 15 0 0 0.004672 0 0 DHCR7 1717 broad.mit.edu 37 11 71150111 71150111 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:71150111G>A uc001oqk.3 - 6 895 c.645C>T c.(643-645)ttC>ttT p.F215F DHCR7_uc001oql.3_Silent_p.F215F NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 215 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) AGTTGTAAAAGAAATTGCCTG 0.443000 Smith-Lemli-Opitz syndrome 14 9 0 0 0.006214 0 0 CMYA5 202333 broad.mit.edu 37 5 79034203 79034203 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:79034203G>A uc003kgc.3 + 1 9687 c.9615G>A c.(9613-9615)aaG>aaA p.K3205K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 3205 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) GAGAGAAAAAGAAGGAAGAGG 0.403000 18 8 0 0 0.003080 0 0 METRNL 284207 broad.mit.edu 37 17 81052048 81052048 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:81052048G>A uc002kgh.3 + 3 789 c.664G>A c.(664-666)Gac>Aac p.D222N METRNL_uc002kgi.3_Missense_Mutation_p.D140N NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA. 222 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TGAGCGGCAGGACTCAGCCAT 0.642000 43 66 0 0 0.003610 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52705250 52705250 + Silent SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:52705250T>A uc002pyp.3 + 1 427 c.132T>A c.(130-132)gtT>gtA p.V44V PPP2R1A_uc010ydk.2_Nonsense_Mutation_p.L23*|PPP2R1A_uc010epm.1_Silent_p.V84V|PPP2R1A_uc002pyq.3_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 44 PP2A subunit B binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CCCTTGGGGTTGAAAGGACCC 0.517000 Mis clear cell ovarian carcinoma 33 14 0 0 0.003163 0 0 NCOA6 23054 broad.mit.edu 37 20 33329378 33329378 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:33329378T>C uc002xav.3 - 11 7253 c.4682A>G c.(4681-4683)cAt>cGt p.H1561R NCOA6_uc002xaw.3_Missense_Mutation_p.H1561R|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.H1561R|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 1561 DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CAATTCGGGATGCACAAGGGA 0.473000 85 33 0 0 0.003271 0 0 BOC 91653 broad.mit.edu 37 3 113003232 113003233 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:113003232_113003233CC>TT uc003dzx.3 + 16 3325_3326 c.2704_2705CC>TT c.(2704-2706)ccg>TTg p.P902L BOC_uc003dzy.3_Missense_Mutation_p.P902L|BOC_uc003dzz.3_Missense_Mutation_p.P903L|BOC_uc003eab.3_Missense_Mutation_p.P603L|BOC_uc003eac.3_Missense_Mutation_p.P217L NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 902 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) ACCCTCCTGCCCGTATACTATG 0.564000 40 41 0 0 0.004672 0 0 FCGBP 8857 broad.mit.edu 37 19 40420098 40420098 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:40420098C>T uc002omp.4 - 5 2904 c.2896G>A c.(2896-2898)Ggc>Agc p.G966S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 966 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCATCCCTGCCCTGTCGGAAC 0.602000 25 7 0 0 0.004482 0 0 GTF3C1 2975 broad.mit.edu 37 16 27497466 27497466 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:27497466G>A uc002dov.2 - 23 3750 c.3710C>T c.(3709-3711)cCa>cTa p.P1237L GTF3C1_uc002dou.3_Missense_Mutation_p.P1237L NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1237 transcription factor TFIIIC complex DNA binding|protein binding p.P1237S(1) breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTTTTCTCCTGGGAACTCTCC 0.562000 68 59 0 0 0.003610 0 0 AK311167 0 broad.mit.edu 37 9 69067929 69067929 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:69067929G>A uc010mnq.2 + 2 c.526_splice c.e2+1 Homo sapiens cDNA, FLJ18209. TGATATGTTGGTGAGTCAGTT 0.279000 39 18 0 0 0.002299 0 0 PPP6R3 55291 broad.mit.edu 37 11 68315627 68315627 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:68315627C>T uc001onv.3 + 4 774 c.507C>T c.(505-507)ctC>ctT p.L169L PPP6R3_uc010rqb.1_Silent_p.L78L|PPP6R3_uc001onw.3_Silent_p.L169L|PPP6R3_uc001ony.4_Silent_p.L169L|PPP6R3_uc001onx.3_Silent_p.L169L|PPP6R3_uc009ysh.3_Silent_p.L169L|PPP6R3_uc001onu.3_Silent_p.L169L|PPP6R3_uc010rqc.2_Silent_p.L78L NM_001164160 NP_001157632 Q5H9R7 PP6R3_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA. 169 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGCTCAGGCTCCTGACGTGTA 0.448000 90 14 0 0 0.002450 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43958684 43958684 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:43958684C>T uc010yny.2 + 18 2969 c.2886C>T c.(2884-2886)tcC>tcT p.S962S PLEKHH2_uc002rtf.3_Silent_p.S961S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 962 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAATCATTTCCCCTCTGACAA 0.338000 178 84 0 0 0.003610 0 0 TPH2 121278 broad.mit.edu 37 12 72338465 72338465 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:72338465C>T uc009zrw.1 + 4 681 c.540_splice c.e4+1 p.P180_splice TPH2_uc001swy.2_Splice_Site_p.P90_splice NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 180 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GCTGACCACCCAGTAAGTGTC 0.468000 25 34 0 0 0.004289 0 0 FANCM 57697 broad.mit.edu 37 14 45636355 45636355 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:45636355C>T uc001wwd.4 + 10 2090 c.1991C>T c.(1990-1992)tCc>tTc p.S664F FANCM_uc001wwc.2_Missense_Mutation_p.S664F|FANCM_uc010anf.3_Missense_Mutation_p.S638F|FANCM_uc001wwe.4_Missense_Mutation_p.S200F NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 664 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TCTATCTTTTCCTATAGGGAT 0.358000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 43 10 0 0 0.008291 0 0 MAP3K11 4296 broad.mit.edu 37 11 65375207 65375207 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:65375207G>A uc001oew.3 - 3 1643 c.1150C>T c.(1150-1152)Cta>Tta p.L384L MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.L127L|MAP3K11_uc001oex.1_Intron NM_002419 NP_002410 Q16584 M3K11_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA. 384 G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 ATTTCCCGTAGGACCTGTGCC 0.657000 21 11 0 0 0.000978 0 0 ZNF331 55422 broad.mit.edu 37 19 54081122 54081122 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:54081122G>A uc002qbx.1 + 6 2742 c.1308G>A c.(1306-1308)gcG>gcA p.A436A ZNF331_uc002qby.1_Silent_p.A436A|ZNF331_uc002qbz.1_Silent_p.A436A|ZNF331_uc010eqr.1_Silent_p.A436A|ZNF331_uc002qca.1_Silent_p.A436A|ZNF331_uc021uzg.1_Silent_p.A436A|ZNF331_uc021uzh.1_Silent_p.A436A|ZNF331_uc002qcb.1_Silent_p.A436A|ZNF331_uc002qcc.1_Silent_p.A436A|ZNF331_uc002qcd.1_Silent_p.A436A NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) ACAGTGGGGCGAAATCCTACG 0.488000 T ? follicular thyroid adenoma 23 10 0 0 0.006214 0 0 GRM3 2913 broad.mit.edu 37 7 86469000 86469000 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:86469000G>A uc003uid.3 + 3 3269 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E596K|GRM3_uc010leh.3_Missense_Mutation_p.E316K NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 724 synaptic transmission integral to plasma membrane p.R723W(1) 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) AGAGAAGCGGGAAACAGTCAT 0.498000 26 29 0 0 0.007291 0 0 CUL7 9820 broad.mit.edu 37 6 43014643 43014643 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:43014643G>A uc003otq.3 - 9 2704 c.2372C>T c.(2371-2373)aCc>aTc p.T791I CUL7_uc010jyg.3_5'UTR|CUL7_uc011dvb.2_Missense_Mutation_p.T875I|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA. 791 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.I790F(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAGGATGTTGGTGATGAGTTT 0.572000 38 26 0 0 0.003954 0 0 TANC2 26115 broad.mit.edu 37 17 61396398 61396398 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61396398A>G uc002jal.4 + 8 1323 c.1300A>G c.(1300-1302)Act>Gct p.T434A TANC2_uc010wpe.2_Missense_Mutation_p.T344A NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 434 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CTGCCCAGGAACTCCGGAAAT 0.502000 28 11 0 0 0.008291 0 0 EPN3 55040 broad.mit.edu 37 17 48613881 48613881 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:48613881G>A uc010wms.2 + 1 399 c.211G>A c.(211-213)Gcg>Acg p.A71T EPN3_uc002ira.4_5'UTR|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_5'UTR Q9H201 EPN3_HUMAN Homo sapiens epsin 3 (EPN3), mRNA. 207 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) TCCACCTCCGGCGGGGGCGAG 0.637000 32 10 0 0 0.008291 0 0 ANKK1 255239 broad.mit.edu 37 11 113264443 113264443 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:113264443C>T uc001pny.3 + 1 520 c.426C>T c.(424-426)ctC>ctT p.L142L NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA. 142 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CGCCTCTGCTCCACCTGGACC 0.567000 7 4 0 0 0.000602 0 0 ABCB4 5244 broad.mit.edu 37 7 87069662 87069662 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:87069662G>A uc003uiv.1 - 12 1489 c.1413C>T c.(1411-1413)atC>atT p.I471I ABCB4_uc003uiw.1_Silent_p.I471I|ABCB4_uc003uix.1_Silent_p.I471I NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 471 ABC transporter 1. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CCACACCAATGATTTCCCTCA 0.353000 43 10 0 0 0.006214 0 0 NME6 10201 broad.mit.edu 37 3 48336702 48336702 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:48336702A>G uc003cso.3 - 4 327 c.281T>C c.(280-282)cTt>cCt p.L94P NME6_uc011bbh.2_Silent_p.L73L|NME6_uc010hju.3_5'UTR|NME6_uc003csp.4_Missense_Mutation_p.L86P|NME6_uc011bbi.2_Intron NM_005793 NP_005784 O75414 NDK6_HUMAN Homo sapiens non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) (NME6), mRNA. 86 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|apoptosis|negative regulation of cell growth|negative regulation of mitosis mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity breast(1)|large_intestine(5) 6 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CTTGTGGGCAAGGATGTAGGC 0.557000 11 17 0 0 0.004990 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809632 18809632 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:18809632C>T uc001bax.3 + 0 2209 c.2157C>T c.(2155-2157)gcC>gcT p.A719A KLHDC7A_uc009vpg.3_Silent_p.A501A NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 719 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCAGTGCGCCGTGGTGGACA 0.652000 18 6 0 0 0.003080 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702047 187702047 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:187702047C>T uc002upu.1 - 4 769 c.729G>A c.(727-729)gaG>gaA p.E243E NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 243 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AACACTTCCCCTCAATTGGAA 0.358000 37 15 0 0 0.004990 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242269 87242269 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:87242269G>A uc003ydq.1 - 0 336 c.238C>T c.(238-240)Caa>Taa p.Q80* SLC7A13_uc003ydr.1_Nonsense_Mutation_p.Q80* NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 80 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AAATAGTATTGAGCTCCACTG 0.493000 19 12 0 0 0.000978 0 0 GPR61 83873 broad.mit.edu 37 1 110085864 110085864 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:110085864C>T uc021orh.1 + 0 220 c.220C>T c.(220-222)Cga>Tga p.R74* GPR61_uc001dxy.2_Nonsense_Mutation_p.R74* NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA. 74 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCTGCCCTCCGAAAATTTGT 0.597000 23 22 0 0 0.002299 0 0 RPS5 6193 broad.mit.edu 37 19 58904809 58904809 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:58904809G>A uc002qsn.3 + 3 474 c.402G>A c.(400-402)gtG>gtA p.V134V LOC646862_uc021vcz.1_5'Flank NM_001009 NP_001000 P46782 RS5_HUMAN Homo sapiens ribosomal protein S5 (RPS5), mRNA. 134 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) CCGGGACTGTGAGACGACAGG 0.642000 29 9 0 0 0.000978 0 0 TIGIT 201633 broad.mit.edu 37 3 114014596 114014596 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:114014596C>T uc003ebg.2 + 1 1021 c.266C>T c.(265-267)cCc>cTc p.P89L NM_173799 NP_776160 Q495A1 TIGIT_HUMAN Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA. 89 Ig-like V-type. negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GCCCCAGGTCCCGGCCTGGGC 0.582000 25 15 0 0 0.006122 0 0 OTOL1 131149 broad.mit.edu 37 3 161220122 161220122 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:161220122G>A uc011bpb.2 + 2 482 c.482G>A c.(481-483)gGa>gAa p.G161E NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 161 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GGGGACCAAGGAGTTCCAGGA 0.418000 18 4 0 0 0.000248 0 0 CAMK1 8536 broad.mit.edu 37 3 9804607 9804607 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:9804607C>T uc003bst.3 - 4 605 c.420G>A c.(418-420)cgG>cgA p.R140R OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript NM_003656 NP_003647 Q14012 KCC1A_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA. 140 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CCTTGAGATCCCGGTGTACAA 0.582000 29 7 0 0 0.001984 0 0 RASGRP4 115727 broad.mit.edu 37 19 38903927 38903927 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:38903927G>A uc021uub.1 - 10 1536 c.1322C>T c.(1321-1323)cCc>cTc p.P441L RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.P372L|RASGRP4_uc021uua.1_Missense_Mutation_p.P407L|RASGRP4_uc021uuc.1_Missense_Mutation_p.P349L|RASGRP4_uc021uud.1_Missense_Mutation_p.P344L|RASGRP4_uc021uue.1_Missense_Mutation_p.P252L|RASGRP4_uc021uuf.1_Missense_Mutation_p.P427L NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA. 441 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGCATTGAAGGGGGAGGGTGG 0.642000 14 8 0 0 0.003080 0 0 SOX10 6663 broad.mit.edu 37 22 38369572 38369573 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:38369572_38369573GG>AA uc003aun.1 - 3 1608_1609 c.1330_1331CC>TT c.(1330-1332)ccc>TTc p.P444F AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P444F NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 444 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity p.P444P(1) NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GGGCCCTGAGGGGCTGGGGTCA 0.673000 13 10 0 0 0.004672 0 0 OR4C16 219428 broad.mit.edu 37 11 55339658 55339658 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:55339658C>T uc010rih.2 + 0 55 c.55C>T c.(55-57)Cct>Tct p.P19S NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GACACAGGATCCTTTTTGGAA 0.403000 57 20 0 0 0.001882 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111766691 111766691 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:111766691C>T uc010hqb.2 + 4 628 c.458C>T c.(457-459)gCc>gTc p.A153V TMPRSS7_uc011bhr.1_Missense_Mutation_p.A8V NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 279 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AAGCTGGTGGCCATAGTGGGC 0.527000 48 13 0 0 0.002450 0 0 CELF5 60680 broad.mit.edu 37 19 3290302 3290302 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:3290302C>T uc002lxm.3 + 10 1297 c.1260C>T c.(1258-1260)ttC>ttT p.F420F CELF5_uc010dtj.2_Missense_Mutation_p.P382S|CELF5_uc002lxl.2_Missense_Mutation_p.P407S|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA. 420 RRM 3. mRNA processing cytoplasm|nucleus RNA binding|nucleotide binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CGCAGATGTTCCTACCCTTCG 0.557000 37 26 0 0 0.005443 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228860 57228860 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:57228860C>T uc010lyk.1 - 1 685 c.47G>A c.(46-48)gGa>gAa p.G16E SDR16C5_uc003xsy.1_Missense_Mutation_p.G16E|SDR16C5_uc010lyl.1_Missense_Mutation_p.G16E NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 16 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 CAGTGATTTTCCTAAGAAAAT 0.418000 22 24 0 0 0.007291 0 0 PCYT1B 9468 broad.mit.edu 37 X 24608156 24608156 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:24608156A>G uc004dbi.3 - 3 703 c.470T>C c.(469-471)tTt>tCt p.F157S PCYT1B_uc004dbk.4_Missense_Mutation_p.F157S|PCYT1B_uc004dbj.3_Missense_Mutation_p.F139S NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA. 157 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity p.E156E(1) breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) TTTTTCCAGAAACTCTGGCGT 0.478000 1 20 0 0 0.002780 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19425764 19425764 + RNA SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:19425764T>G uc010tcj.1 - 0 c.20346A>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AAATTTATTGTTATTCAAATA 0.269000 12 4 0 0 0.000248 0 0 KRT8 3856 broad.mit.edu 37 12 53293662 53293662 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:53293662G>A uc009zmk.1 - 5 982 c.962C>T c.(961-963)gCt>gTt p.A321V KRT8_uc001sbd.2_Missense_Mutation_p.A293V|KRT8_uc009zml.1_Missense_Mutation_p.A293V|KRT8_uc009zmm.1_Missense_Mutation_p.A293V NM_002273 NP_002264 P05787 K2C8_HUMAN Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA. 293 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGCTTCCCAGCCAGGCTCTG 0.577000 10 7 0 0 0.003080 0 0 LCK 3932 broad.mit.edu 37 1 32751132 32751132 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:32751132G>A uc001bux.3 + 12 1483 c.1345G>A c.(1345-1347)Gtg>Atg p.V449M LCK_uc001buy.3_Missense_Mutation_p.V449M|LCK_uc001buz.3_Missense_Mutation_p.V479M|LCK_uc001bva.3_Missense_Mutation_p.V456M NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 449 Protein kinase. T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CAACCCGGAGGTGATTCAGAA 0.562000 T TRB@ T-ALL 14 28 0 0 0.002096 0 0 SPTB 6710 broad.mit.edu 37 14 65266488 65266488 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:65266488G>A uc001xht.3 - 7 1092 c.1041C>T c.(1039-1041)taC>taT p.Y347Y SPTB_uc001xhr.3_Silent_p.Y347Y|SPTB_uc001xhs.3_Silent_p.Y347Y|SPTB_uc001xhu.3_Silent_p.Y347Y NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 347 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCACGGTGCGGTAGGTGCTGA 0.612000 22 6 0 0 0.001984 0 0 RTBDN 83546 broad.mit.edu 37 19 12945611 12945611 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:12945611G>A uc002mvj.3 - 1 384 c.66C>T c.(64-66)ctC>ctT p.L22L RTBDN_uc002mvh.1_Silent_p.L22L|RTBDN_uc021upo.1_5'Flank NM_031429 NP_001074466 Q9BSG5 RTBDN_HUMAN Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA. 0 extracellular region kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 CCAAGGTGGGGAGGGATTCTG 0.587000 33 10 0 0 0.008291 0 0 CSMD3 114788 broad.mit.edu 37 8 113326686 113326686 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:113326686C>T uc003ynu.3 - 47 7680 c.7521G>A c.(7519-7521)aaG>aaA p.K2507K CSMD3_uc003yns.3_Silent_p.K1709K|CSMD3_uc003ynt.3_Silent_p.K2467K|CSMD3_uc011lhx.2_Silent_p.K2403K|CSMD3_uc003ynw.1_Silent_p.K218K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2507 CUB 14. integral to membrane|plasma membrane p.E2506K(1)|p.E2506G(1) 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 CATCAAATTCCTTTTCTGTCT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 16 0 0 0.007413 0 0 ERICH1 157697 broad.mit.edu 37 8 665918 665918 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:665918G>A uc003wph.3 - 1 177 c.112C>T c.(112-114)Cca>Tca p.P38S NM_207332 NP_997215 Q86X53 ERIC1_HUMAN Homo sapiens glutamate-rich 1 (ERICH1), mRNA. 38 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TTCTTTGGTGGATTTTGGACG 0.502000 57 41 0 0 0.002852 0 0 SEPT4 5414 broad.mit.edu 37 17 56599151 56599151 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:56599151G>A uc010wnx.2 - 7 1051 c.906C>T c.(904-906)atC>atT p.I302I SEPT4_uc002iwk.2_Silent_p.I140I|SEPT4_uc010wnw.2_Silent_p.I140I|SEPT4_uc002iwl.2_Silent_p.I140I|SEPT4_uc002iwm.2_Silent_p.I287I|SEPT4_uc002iwo.2_Silent_p.I268I|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Silent_p.I279I|SEPT4_uc010dcy.2_3'UTR NM_080416 NP_536341 O43236 SEPT4_HUMAN Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA. 287 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTTAGCCAGGATAGGCACGA 0.562000 34 19 0 0 0.008871 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999641 46999641 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:46999641G>A uc001jec.3 + 2 896 c.761G>A c.(760-762)gGg>gAg p.G254E GPRIN2_uc021ppt.1_Missense_Mutation_p.G254E NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 254 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CCTGCCACAGGGATCCTGGCC 0.627000 37 4 0 0 0.000602 0 0 EXOC4 60412 broad.mit.edu 37 7 133602416 133602416 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:133602416C>T uc003vrk.3 + 12 1987 c.1952C>T c.(1951-1953)tCt>tTt p.S651F EXOC4_uc011kpo.2_Missense_Mutation_p.S550F|EXOC4_uc003vrl.3_Missense_Mutation_p.S261F|EXOC4_uc011kpp.2_Missense_Mutation_p.S183F NM_021807 NP_068579 Q96A65 EXOC4_HUMAN Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA. 651 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CTCTTGAAATCTCTACCAAAC 0.403000 36 30 0 0 0.008361 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140207946 140207946 + Silent SNP C T T rs140846988 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140207946C>T uc003lho.2 + 0 297 c.270C>T c.(268-270)atC>atT p.I90I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I90I|PCDHAC2_uc011dab.2_Silent_p.I90I NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 105 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGG 0.602000 141 7 0 0 0.008291 0 0 RASGRF2 5924 broad.mit.edu 37 5 80476039 80476039 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:80476039G>A uc003kha.2 + 17 2782 c.2732G>A c.(2731-2733)cGg>cAg p.R911Q RASGRF2_uc011ctn.2_Non-coding_Transcript NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 911 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding p.R911R(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTTATTATACGGAGAACGGCT 0.448000 39 66 0 0 0.003610 0 0 CGNL1 84952 broad.mit.edu 37 15 57753911 57753911 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:57753911C>T uc010bfw.3 + 8 2417 c.2224C>T c.(2224-2226)Ctg>Ttg p.L742L CGNL1_uc002aeg.3_Silent_p.L742L NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 742 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCTTCAAGATCTGCTGATTGC 0.498000 76 25 0 0 0.006320 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882320 228882320 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:228882320C>T uc002vpq.2 - 6 3297 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K SPHKAP_uc002vpp.2_Missense_Mutation_p.E1084K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1084K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1084 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAATGCTTTCGCAGCTGGAG 0.622000 10 29 0 0 0.007291 0 0 ARMC1 55156 broad.mit.edu 37 8 66517673 66517673 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:66517673G>A uc003xvl.3 - 4 821 c.566C>T c.(565-567)tCa>tTa p.S189L ARMC1_uc011leo.2_Missense_Mutation_p.S87L NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA. 189 metal ion transport metal ion binding p.R188H(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1) 14 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) TTTCAAATCTGAACGGATTCG 0.333000 50 27 0 0 0.003755 0 0 DSCAM 1826 broad.mit.edu 37 21 41725524 41725524 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:41725524A>T uc002yyq.1 - 4 1254 c.802T>A c.(802-804)Tca>Aca p.S268T DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 268 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AACCTCCCTGAAAGTTCCAGG 0.577000 11 12 0 0 0.000978 0 0 GPR98 84059 broad.mit.edu 37 5 89943465 89943465 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:89943465G>A uc003kju.3 + 16 3269 c.3173G>A c.(3172-3174)gGa>gAa p.G1058E GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1058 Calx-beta 8. 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) GTTGAAAAAGGAGAAACGCTC 0.413000 29 59 0 0 0.003610 0 0 KIDINS220 57498 broad.mit.edu 37 2 8958895 8958895 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:8958895G>A uc002qzc.2 - 2 319 c.137C>T c.(136-138)gCc>gTc p.A46V KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A4V|KIDINS220_uc010yiw.1_Missense_Mutation_p.A46V NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 46 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCCTTGTTCGGCAGCTATCAT 0.328000 26 46 0 0 0.003610 0 0 SLC10A6 345274 broad.mit.edu 37 4 87769914 87769914 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:87769914C>T uc003hqd.2 - 0 503 c.355G>A c.(355-357)Gtt>Att p.V119I NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA. 119 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) TCTCCATCAACCCAGAAGGTG 0.493000 46 43 0 0 0.003610 0 0 CLTC 1213 broad.mit.edu 37 17 57758365 57758365 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:57758365C>T uc002ixr.1 + 18 3467 c.3024C>T c.(3022-3024)ctC>ctT p.L1008L CLTC_uc002ixp.3_Silent_p.L1004L|CLTC_uc002ixq.1_Silent_p.L1004L NM_004859 NP_004850 Q00610 CLH1_HUMAN Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA. 1004 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTAATGAACTCATTGAACTGC 0.408000 T """ALK, TFE3""" """ALCL, renal """ 81 45 0 0 0.003214 0 0 PCDH18 54510 broad.mit.edu 37 4 138451346 138451346 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:138451346G>A uc003ihe.4 - 0 2284 c.1897C>T c.(1897-1899)Cca>Tca p.P633S PCDH18_uc003ihf.4_Missense_Mutation_p.P626S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P413S|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 633 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CATGATCGTGGATCAATTATG 0.443000 92 71 0 0 0.003610 0 0 PRR11 55771 broad.mit.edu 37 17 57274954 57274954 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:57274954G>A uc002ixf.2 + 7 1219 c.907G>A c.(907-909)Gat>Aat p.D303N PRR11_uc021uar.1_Non-coding_Transcript NM_018304 NP_060774 Q96HE9 PRR11_HUMAN Homo sapiens proline rich 11 (PRR11), mRNA. 303 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TAGAAAAGTCGATGTAGAGAG 0.378000 51 16 0 0 0.008871 0 0 SULT1E1 6783 broad.mit.edu 37 4 70709918 70709918 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:70709918C>T uc003heo.3 - 6 846 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 245 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TTCATAATTTCGTCTGGCAGT 0.428000 69 56 0 0 0.003610 0 0 CRYGN 155051 broad.mit.edu 37 7 151127247 151127247 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:151127247A>G uc003wke.3 - 3 532 c.436T>C c.(436-438)Ttc>Ctc p.F146L CRYGN_uc003wkf.3_3'UTR|CRYGN_uc003wkg.3_Non-coding_Transcript NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN Homo sapiens crystallin, gamma N (CRYGN), mRNA. 146 central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAGCTCCGAAGCTTCTAGGG 0.562000 18 15 0 0 0.002450 0 0 FBXO30 84085 broad.mit.edu 37 6 146121323 146121323 + Silent SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:146121323G>T uc003qla.3 - 2 2356 c.2157C>A c.(2155-2157)atC>atA p.I719I LOC100507557_uc003qky.2_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN Homo sapiens F-box protein 30 (FBXO30), mRNA. 719 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) ATGGCAAAGGGATTGCTTCCT 0.393000 54 46 6.4308e-24 8.92722e-24 0.003610 1 0 LDHAL6B 92483 broad.mit.edu 37 15 59499502 59499502 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:59499502G>A uc002agb.3 + 0 461 c.363G>A c.(361-363)acG>acA p.T121T MYO1E_uc002aga.3_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA. 121 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GCCCTTTCACGAAAATGCCAA 0.428000 66 21 0 0 0.001523 0 0 ZNF530 348327 broad.mit.edu 37 19 58118495 58118495 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:58118495C>T uc002qpk.2 + 2 1822 c.1602C>T c.(1600-1602)ctC>ctT p.L534L ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN Homo sapiens zinc finger protein 530 (ZNF530), mRNA. 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCTCTGCCCTCCTTCAGCATA 0.458000 36 7 0 0 0.001984 0 0 HECTD1 25831 broad.mit.edu 37 14 31570189 31570189 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:31570189T>A uc001wrc.1 - 42 8269 c.7780A>T c.(7780-7782)Atg>Ttg p.M2594L HECTD1_uc001wra.1_Missense_Mutation_p.M720L|HECTD1_uc001wrb.1_Missense_Mutation_p.M720L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 2594 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CGCTCTCTCATGATCTCCTCG 0.418000 44 36 0 0 0.004289 0 0 CLCA2 9635 broad.mit.edu 37 1 86920861 86920861 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:86920861C>T uc001dlr.4 + 13 2645 c.2483C>T c.(2482-2484)cCt>cTt p.P828L NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN Homo sapiens chloride channel accessory 2 (CLCA2), mRNA. 828 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AAGCGAAATCCTCAGCAAGCT 0.378000 42 10 0 0 0.006214 0 0 SPINK5 11005 broad.mit.edu 37 5 147499859 147499859 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:147499859G>A uc003lox.2 + 26 2515 c.2442_splice c.e26-1 p.L814_splice SPINK5_uc010jgr.2_Splice_Site_p.L795_splice|SPINK5_uc003low.2_Splice_Site_p.L814_splice|SPINK5_uc003loy.2_Splice_Site_p.L814_splice NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 814 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCCCAGGGAAAGGGAAGC 0.388000 4 11 0 0 0.000978 0 0 TINAG 27283 broad.mit.edu 37 6 54219385 54219385 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:54219385G>A uc003pcj.2 + 8 1347 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 401 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.E401*(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CACAAATAAAGAATCAGAAAA 0.323000 26 29 0 0 0.008361 0 0 ZNF407 55628 broad.mit.edu 37 18 72347586 72347586 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:72347586C>T uc002llw.2 + 0 4664 c.4611C>T c.(4609-4611)aaC>aaT p.N1537N ZNF407_uc010xfc.2_Silent_p.N1537N|ZNF407_uc010dqu.2_Silent_p.N1537N|ZNF407_uc002llu.2_Silent_p.N1536N NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1537 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACCAGGGAAACGTCTGCAAGT 0.488000 15 18 0 0 0.006122 0 0 ASMTL 8623 broad.mit.edu 37 X 1546840 1546840 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:1546840G>A uc004cpx.2 - 6 821 c.684C>T c.(682-684)tcC>tcT p.S228S CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.S212S|ASMTL_uc011mhe.2_Silent_p.S152S|ASMTL_uc011mhf.2_Silent_p.S170S NM_004192 NP_001166944 O95671 ASML_HUMAN Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA. 228 melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 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) CGGCCGGGATGGAGTCGTGCT 0.672000 28 10 0 0 0.006214 0 0 CRTC3 64784 broad.mit.edu 37 15 91147627 91147628 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:91147627_91147628CC>TT uc002bpp.3 + 4 530_531 c.424_425CC>TT c.(424-426)cct>TTt p.P142F CRTC3_uc002bpo.3_Missense_Mutation_p.P142F NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA. 142 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) GCAGCAGCCTCCTTGGAAAGAC 0.441000 T MAML2 salivary gland mucoepidermoid 69 16 0 0 0.004672 0 0 COL21A1 81578 broad.mit.edu 37 6 56044748 56044748 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:56044748G>A uc003pcs.3 - 2 500 c.268C>T c.(268-270)Cct>Tct p.P90S COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.P90S|COL21A1_uc003pcu.1_Missense_Mutation_p.P90S NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 90 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTTCCGAGAGGAATCTCCAGC 0.438000 14 20 0 0 0.008871 0 0 RGS7 6000 broad.mit.edu 37 1 241031944 241031944 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:241031944A>C uc001hyt.2 - 1 102 c.48T>G c.(46-48)atT>atG p.I16M RGS7_uc010pyh.2_Missense_Mutation_p.I158M|RGS7_uc010pyj.1_Missense_Mutation_p.I100M|RGS7_uc001hyu.2_Missense_Mutation_p.I184M|RGS7_uc009xgn.1_Missense_Mutation_p.I131M|RGS7_uc001hyv.2_Missense_Mutation_p.I184M|RGS7_uc001hyw.2_Missense_Mutation_p.I184M NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 184 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTTCCTTTCAATCTTGTCTC 0.458000 56 16 0 0 0.004990 0 0 ZNF676 163223 broad.mit.edu 37 19 22363113 22363113 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:22363113C>T uc002nqs.1 - 2 1724 c.1406G>A c.(1405-1407)aGa>aAa p.R469K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K468N(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGCATGAATTCTCTTGTGTTT 0.393000 68 20 0 0 0.001882 0 0 DNAH9 1770 broad.mit.edu 37 17 11572944 11572944 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:11572944C>T uc002gne.3 + 16 3254 c.3186C>T c.(3184-3186)atC>atT p.I1062I DNAH9_uc010coo.3_Silent_p.I356I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1062 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAGTGCAAATCGACTCCTATG 0.483000 87 25 0 0 0.005443 0 0 KRT71 112802 broad.mit.edu 37 12 52944001 52944001 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:52944001C>T uc001sao.3 - 1 538 c.468G>A c.(466-468)caG>caA p.Q156Q NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 156 Coil 1A.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) TCTCCAGTACCTGGTTCTGCT 0.557000 39 14 0 0 0.003163 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153909092 153909092 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:153909092C>T uc021xgc.1 + 7 1939 c.1655C>T c.(1654-1656)tCc>tTc p.S552F ARHGEF26_uc011bog.1_Missense_Mutation_p.S552F|ARHGEF26_uc011boh.1_Missense_Mutation_p.S552F NM_001251962 NP_001238891 Q96DR7 ARHGQ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA. 552 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 ACCAATCCATCCTTTAAGGAA 0.393000 9 13 0 0 0.003163 0 0 ADORA1 134 broad.mit.edu 37 1 203134668 203134668 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:203134668C>T uc010pqh.1 + 2 757 c.720C>T c.(718-720)atC>atT p.I240I ADORA1_uc001gzf.1_Silent_p.I207I|ADORA1_uc001gze.1_Silent_p.I207I|ADORA1_uc010pqg.1_Silent_p.I139I|ADORA1_uc009xak.1_Missense_Mutation_p.P133S NM_001048230 NP_001041695 P30542 AA1R_HUMAN Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA. 207 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) TCTACCTAATCCGCAAGCAGC 0.552000 26 22 0 0 0.002299 0 0 CIT 11113 broad.mit.edu 37 12 120241103 120241103 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:120241103G>A uc001txj.2 - 9 1258 c.1202C>T c.(1201-1203)cCg>cTg p.P401L CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.P401L NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 401 AGC-kinase C-terminal. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAGCTGGCACGGAGAGGATGA 0.527000 38 47 0 0 0.003610 0 0 MTMR4 9110 broad.mit.edu 37 17 56585613 56585613 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:56585613T>C uc002iwj.2 - 7 684 c.574A>G c.(574-576)Aag>Gag p.K192E NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 192 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACCAGCAGCTTCTGGGGGTAA 0.557000 50 23 0 0 0.003330 0 0 GGT8P 645367 broad.mit.edu 37 2 91969081 91969081 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:91969081G>A uc010fho.1 + 1 c.1412G>A Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA. TCCTGCTGCGGCTGGCTGACA 0.622000 4 4 0 0 0.000248 0 0 KRT39 390792 broad.mit.edu 37 17 39123069 39123069 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:39123069T>C uc002hvo.1 - 0 76 c.40A>G c.(40-42)Acc>Gcc p.T14A KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN Homo sapiens keratin 39 (KRT39), mRNA. 14 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) TGACATGGGGTTGAAGGAGAA 0.468000 78 71 0 0 0.003610 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84581953 84581953 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:84581953C>T uc002bjz.4 + 15 2034 c.1810C>T c.(1810-1812)Ctg>Ttg p.L604L ADAMTSL3_uc010bmt.1_Silent_p.L604L NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 604 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGAGACTGAGCTGCCCGAGGA 0.632000 31 11 0 0 0.000978 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526501 173526501 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:173526501C>T uc001giz.2 - 9 1616 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 398 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity p.R398Q(2) TTCCACTTTTCGTTCAGCGAG 0.363000 107 40 0 0 0.007835 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469567 21469567 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:21469567G>A uc001vyr.3 + 3 951 c.759G>A c.(757-759)ggG>ggA p.G253G SLC39A2_uc001vys.3_Silent_p.G154G NM_014579 NP_055394 Q9NP94 S39A2_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA. 253 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) CTGAAGGAGGGCGGGGCTTAG 0.572000 34 29 0 0 0.007291 0 0 SCN3A 6328 broad.mit.edu 37 2 165984148 165984148 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:165984148C>T uc002ucx.3 - 17 3878 c.3386G>A c.(3385-3387)aGc>aAc p.S1129N SCN3A_uc002ucy.3_Missense_Mutation_p.S1080N|SCN3A_uc002ucz.3_Missense_Mutation_p.S1080N|SCN3A_uc002uda.1_Missense_Mutation_p.S949N|SCN3A_uc002udb.1_Missense_Mutation_p.S949N NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 1129 voltage-gated sodium channel complex voltage-gated sodium channel activity p.E1128K(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TACCTCTTTGCTTTCTTCTAG 0.358000 27 19 0 0 0.007413 0 0 GFRAL 389400 broad.mit.edu 37 6 55198660 55198660 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:55198660C>T uc003pcm.1 + 2 320 c.234C>T c.(232-234)ttC>ttT p.F78F NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 78 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAAGCAATTTCCAATTTAAAG 0.348000 88 77 0 0 0.003610 0 0 GPT2 84706 broad.mit.edu 37 16 46952658 46952658 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:46952658C>T uc002eel.3 + 7 1120 c.1026C>T c.(1024-1026)ggC>ggT p.G342G GPT2_uc002eem.3_Silent_p.G242G NM_133443 NP_001135938 Q8TD30 ALAT2_HUMAN Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA. 342 2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCTCCAAGGGCTACATGGGCG 0.637000 38 7 0 0 0.001984 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291314 141291314 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:141291314G>A uc022cfj.1 - 0 460 c.460C>T c.(460-462)Ctc>Ttc p.L154F MAGEC2_uc004fbu.2_Missense_Mutation_p.L154F NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 154 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCGTATTTGAGGAGCAGGAAC 0.488000 HNSCC(46;0.14) 38 42 0 0 0.002222 0 0 OR52I1 390037 broad.mit.edu 37 11 4615299 4615299 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:4615299G>A uc010qyi.2 + 0 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACACAATGGAAACCCCTGC 0.468000 68 66 0 0 0.003610 0 0 FERMT3 83706 broad.mit.edu 37 11 63987457 63987457 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:63987457G>A uc001nyl.2 + 9 1335 c.1186G>A c.(1186-1188)Ggg>Agg p.G396R FERMT3_uc001nym.2_Missense_Mutation_p.G392R NM_178443 NP_848537 Q86UX7 URP2_HUMAN Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA. 396 FERM.|PH. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CGAGGCCCCTGGGGACCCCAT 0.622000 12 6 0 0 0.003080 0 0 LRRC29 26231 broad.mit.edu 37 16 67241580 67241580 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:67241580T>C uc002esd.3 - 3 1497 c.600A>G c.(598-600)caA>caG p.Q200Q LRRC29_uc002ese.3_Silent_p.Q200Q|LRRC29_uc002esf.3_Silent_p.Q200Q|LRRC29_uc002esg.3_Silent_p.Q200Q NM_012163 NP_036295 Q8WV35 LRC29_HUMAN Homo sapiens leucine rich repeat containing 29 (LRRC29), transcript variant 1, mRNA. 200 autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GCAGCTGGGCTTGGAAGCGTC 0.637000 17 14 0 0 0.004990 0 0 C1orf106 55765 broad.mit.edu 37 1 200880918 200880918 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:200880918C>T uc001gvo.3 + 8 1594 c.1552C>T c.(1552-1554)Ccg>Tcg p.P518S C1orf106_uc010ppm.2_Missense_Mutation_p.P433S NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 518 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TGGCTATTTCCCGGCGGGGCG 0.731000 15 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179592958 179592958 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179592958G>A uc021vsy.1 - 63 16086 c.15861C>T c.(15859-15861)tgC>tgT p.C5287C TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.C1948C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6214 Ig-like 33. 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) ATCTCTCATGGCACACAAGTC 0.393000 23 5 0 0 0.000602 0 0 TLR8 51311 broad.mit.edu 37 X 12939916 12939916 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:12939916G>A uc004cvd.3 + 2 2981 c.2811G>A c.(2809-2811)gaG>gaA p.E937E TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.E919E NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 919 TIR. I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTCTAGAGGAGAGGGATTGGG 0.438000 1 47 0 0 0.003610 0 0 AZU1 566 broad.mit.edu 37 19 830846 830846 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:830846C>T uc002lpz.1 + 3 515 c.499C>T c.(499-501)Ccc>Tcc p.P167S NM_001700 NP_001691 P20160 CAP7_HUMAN Homo sapiens azurocidin 1 (AZU1), mRNA. 167 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCGTTTTCCCAGGTTTGT 0.662000 10 19 0 0 0.001523 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111979347 111979347 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:111979347G>A uc004bdz.1 - 15 1783 c.1488C>T c.(1486-1488)ttC>ttT p.F496F NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 496 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGCGGTGAGGAACGGTGTGC 0.582000 12 18 0 0 0.006122 0 0 MBD3 53615 broad.mit.edu 37 19 1578341 1578341 + Nonstop_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:1578341A>T uc002ltj.3 - 5 896 c.874T>A c.(874-876)Tag>Aag p.*292K AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Nonstop_Mutation_p.*260K|MBD3_uc002ltl.1_Nonstop_Mutation_p.*292K NM_003926 NP_003917 O95983 MBD3_HUMAN Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA. 0 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CACCTGCCCTAGACGTGCTCC 0.692000 11 9 0 0 0.008291 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421999 62421999 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:62421999C>T uc002ygv.2 - 1 313 c.112G>A c.(112-114)Gag>Aag p.E38K ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 38 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) ACCTTGCCCTCCACGACCACG 0.612000 22 24 0 0 0.003330 0 0 C3orf43 255798 broad.mit.edu 37 3 196236461 196236461 + Missense_Mutation SNP C T T rs79673145 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:196236461C>T uc003fws.3 - 1 287 c.130G>A c.(130-132)Gaa>Aaa p.E44K C3orf43_uc003fwr.3_Missense_Mutation_p.E36K NM_001077657 NP_001071125 Q147U7 CC043_HUMAN Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA. 44 integral to membrane p.E44K(2) NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) CTATGATGTTCGAATTTCTGC 0.438000 49 16 0 0 0.004990 0 0 ARSE 415 broad.mit.edu 37 X 2853178 2853178 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:2853178C>T uc011mhh.2 - 11 2001 c.1540G>A c.(1540-1542)Gcc>Acc p.A514T ARSE_uc011mhi.2_Missense_Mutation_p.A435T|ARSE_uc004crc.4_Missense_Mutation_p.A489T P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 489 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 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) CAGGCACCGGCTCCCTCTGGC 0.502000 4 5 0 0 0.001168 0 0 ATP10D 57205 broad.mit.edu 37 4 47538910 47538910 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:47538910C>T uc003gxk.1 + 8 1515 c.1351C>T c.(1351-1353)Cga>Tga p.R451* ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Nonsense_Mutation_p.R436* NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 451 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GATGGTTTTTCGAAGATGTAG 0.443000 32 5 0 0 0.001168 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086964 39086964 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:39086964C>T uc011aej.1 - 2 549 c.496G>A c.(496-498)Gag>Aag p.E166K KCNJ6_uc002ywo.2_Missense_Mutation_p.E166K NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 166 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ATAATTCCCTCTGGGCATTTA 0.423000 41 29 0 0 0.002096 0 0 CALN1 83698 broad.mit.edu 37 7 71488734 71488734 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:71488734C>T uc003twb.4 - 4 800 c.409G>A c.(409-411)Gat>Aat p.D137N CALN1_uc003twa.4_Missense_Mutation_p.D95N|CALN1_uc003twc.4_Missense_Mutation_p.D95N NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 95 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATGAATTCATCAAAATCCACC 0.458000 45 35 0 0 0.004878 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117450995 117450996 + Silent DNP GA AG AG TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:117450995_117450996GA>AG uc003vjf.3 - 2 329_330 c.237_238TC>CT c.(235-240)aatcta>aaCTta p.79_80NL>NL NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 79 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGGTCATTTAGATTAAATCTCC 0.431000 45 30 0 0 0.004672 0 0 MYLK3 91807 broad.mit.edu 37 16 46746678 46746678 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:46746678G>A uc002eei.4 - 9 2112 c.1996C>T c.(1996-1998)Cga>Tga p.R666* MYLK3_uc010vge.2_Nonsense_Mutation_p.R325* NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 666 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGCTTCTCTCGAGGCTTGTAC 0.552000 26 7 0 0 0.003080 0 0 GNAO1 2775 broad.mit.edu 37 16 56370700 56370700 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:56370700G>A uc002eit.4 + 5 1548 c.651G>A c.(649-651)gaG>gaA p.E217E GNAO1_uc002eiu.4_Silent_p.E217E NM_138736 NP_620073 P09471 GNAO_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA. 217 G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) ATTGCTTCGAGGACGTCACGG 0.627000 10 6 0 0 0.001168 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50464858 50464858 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:50464858G>A uc001vdk.2 + 0 314 c.132G>A c.(130-132)gtG>gtA p.V44V Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. GGGAATTGGTGATATGTGCAG 0.507000 10 9 0 0 0.004482 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627233 21627233 + Silent SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:21627233T>A uc004czx.2 + 19 2670 c.2190T>A c.(2188-2190)ctT>ctA p.L730L CNKSR2_uc004czw.3_Silent_p.L730L|CNKSR2_uc011mjn.2_Silent_p.L681L|CNKSR2_uc011mjo.2_Silent_p.L700L|CNKSR2_uc004czy.3_Silent_p.L322L NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 730 regulation of signal transduction cytoplasm|membrane protein binding p.R729*(1) breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ATAGCCGACTTTCCTCCACGG 0.502000 1 33 0 0 0.004878 0 0 COG8 84342 broad.mit.edu 37 16 69368747 69368747 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:69368747G>A uc002ewy.2 - 2 1161 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W NM_032382 NP_115758 Q96MW5 COG8_HUMAN Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA. 364 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 AACTGACCCCGGAAATCAGCT 0.557000 21 25 0 0 0.003330 0 0 DNAH3 55567 broad.mit.edu 37 16 20976520 20976520 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:20976520G>A uc010vbe.2 - 52 8686 c.8686C>T c.(8686-8688)Cgc>Tgc p.R2896C DNAH3_uc010vbd.2_Missense_Mutation_p.R331C NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2896 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTGGCCACGCGATCGTACACC 0.567000 76 30 0 0 0.002096 0 0 UNC5B 219699 broad.mit.edu 37 10 73051457 73051457 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:73051457C>T uc001jro.3 + 9 2014 c.1563C>T c.(1561-1563)ttC>ttT p.F521F UNC5B_uc001jrp.3_Silent_p.F510F NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 521 apoptosis|axon guidance|regulation of apoptosis integral to membrane p.H520N(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ACACCCACTTCCTGCACCTGC 0.697000 15 5 0 0 0.001168 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672638 141672638 + Silent SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:141672638C>A uc003vwx.1 - 0 936 c.852G>T c.(850-852)ggG>ggT p.G284G NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 284 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CTGCCATTATCCCAACACAAA 0.512000 46 25 1.39806e-14 1.93276e-14 0.008361 1 0 ROS1 6098 broad.mit.edu 37 6 117686268 117686268 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:117686268C>T uc003pxp.1 - 19 3272 c.3073G>A c.(3073-3075)Gga>Aga p.G1025R ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1025 Fibronectin type-III 4. 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) GGGCCCTTTCCCCAGTAGGTA 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 32 22 0 0 0.002299 0 0 ALPL 249 broad.mit.edu 37 1 21889719 21889719 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:21889719G>A uc001bet.3 + 4 671 c.414G>A c.(412-414)cgG>cgA p.R138R ALPL_uc010odo.2_Silent_p.R83R|ALPL_uc010odp.2_Silent_p.R61R|ALPL_uc010odn.2_Silent_p.R86R|ALPL_uc001beu.4_Silent_p.R138R NM_000478 NP_001120973 P05186 PPBT_HUMAN Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. 138 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AGCGTTCCCGGTGCAACACCA 0.687000 22 4 0 0 0.000248 0 0 ADD1 118 broad.mit.edu 37 4 2910299 2910299 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:2910299T>C uc003gfq.3 + 11 1854 c.1666T>C c.(1666-1668)Tgt>Cgt p.C556R ADD1_uc003gfo.3_Missense_Mutation_p.C556R|ADD1_uc003gfp.3_Missense_Mutation_p.C525R|ADD1_uc003gfr.3_Missense_Mutation_p.C525R|ADD1_uc003gfs.3_Missense_Mutation_p.C525R NM_014189 NP_054908 P35611 ADDA_HUMAN Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA. 525 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding F-actin capping protein complex|cytosol|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCAGGTTTTGTGTGGTGTAGT 0.547000 17 19 0 0 0.001523 0 0 WDR59 79726 broad.mit.edu 37 16 74949875 74949875 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:74949875G>A uc002fdh.1 - 12 1219 c.1117C>T c.(1117-1119)Cct>Tct p.P373S WDR59_uc002fdi.3_Missense_Mutation_p.P373S|WDR59_uc021tli.1_Missense_Mutation_p.P352S|WDR59_uc002fdg.1_5'UTR NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 373 p.P372S(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 AGATTTCTAGGGGGATCTTCT 0.458000 24 24 0 0 0.005443 0 0 NDNF 79625 broad.mit.edu 37 4 121957664 121957664 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:121957664T>G uc003idq.1 - 3 1989 c.1462A>C c.(1462-1464)Aac>Cac p.N488H NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 488 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TCATTGTAGTTATCATCCACT 0.428000 43 34 0 0 0.002836 0 0 PEG3 5178 broad.mit.edu 37 19 57325321 57325321 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:57325321C>T uc002qnu.2 - 6 4840 c.4489G>A c.(4489-4491)Gag>Aag p.E1497K PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1468K|PEG3_uc002qnv.2_Missense_Mutation_p.E1497K|PEG3_uc002qnw.2_Missense_Mutation_p.E1373K|PEG3_uc002qnx.2_Missense_Mutation_p.E1371K|PEG3_uc010etr.2_Missense_Mutation_p.E1497K NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1497 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ACCTGAATCTCTTGATCTTCA 0.488000 56 25 0 0 0.003954 0 0 COL27A1 85301 broad.mit.edu 37 9 116958288 116958288 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:116958288G>A uc011lxl.2 + 6 2120 c.2120G>A c.(2119-2121)cGa>cAa p.R707Q COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.R539Q NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 707 Collagen-like 2.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCTCCGGGACGAAAGGTACTG 0.597000 51 22 0 0 0.003330 0 0 CD69 969 broad.mit.edu 37 12 9906184 9906184 + Splice_Site SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:9906184A>G uc001qwk.3 - 5 573 c.492_splice c.e5-1 p.W164_splice NM_001781 NP_001772 Q07108 CD69_HUMAN Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA. 164 C-type lectin. integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 GTAACGTTGAACCTGTCAAAC 0.353000 10 14 0 0 0.003163 0 0 DTNA 1837 broad.mit.edu 37 18 32398181 32398181 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:32398181C>T uc010dmn.1 + 6 764 c.763C>T c.(763-765)Cgc>Tgc p.R255C DTNA_uc002kxu.2_Missense_Mutation_p.R255C|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.R255C|DTNA_uc002kxw.2_Missense_Mutation_p.R255C|DTNA_uc002kxx.2_Missense_Mutation_p.R255C|DTNA_uc002kxz.2_Missense_Mutation_p.R255C|DTNA_uc002kxy.2_Missense_Mutation_p.R255C|DTNA_uc010dmj.3_Missense_Mutation_p.R255C|DTNA_uc002kyb.4_Missense_Mutation_p.R255C|DTNA_uc010dml.3_Missense_Mutation_p.R255C|DTNA_uc010dmm.3_Missense_Mutation_p.R255C|DTNA_uc010xby.1_Missense_Mutation_p.R5C|DTNA_uc021uiq.1_Missense_Mutation_p.R5C|DTNA_uc021uir.1_Missense_Mutation_p.R5C|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA. 255 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GATGGGATTTCGCTACCGATG 0.468000 36 12 0 0 0.001855 0 0 FAM71B 153745 broad.mit.edu 37 5 156589651 156589651 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:156589651C>T uc003lwn.3 - 1 1725 c.1625G>A c.(1624-1626)aGg>aAg p.R542K NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 542 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGAGTGGCCCTGAGGCTCCT 0.463000 304 147 0 0 0.003610 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6938851 6938851 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrY:6938851A>C uc004frb.3 + 9 1328 c.681A>C c.(679-681)gaA>gaC p.E227D TBL1Y_uc004frc.3_Missense_Mutation_p.E227D|TBL1Y_uc004frd.3_Missense_Mutation_p.E227D|TBL1Y_uc011nap.2_Missense_Mutation_p.E69D NM_033284 NP_599021 Q9BQ87 TBL1Y_HUMAN Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA. 227 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 GTATACGAGAAGGGGGGCACG 0.488000 1 37 0 0 0.004878 0 0 LACTB 114294 broad.mit.edu 37 15 63433670 63433670 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:63433670C>T uc002alw.3 + 5 1382 c.1310C>T c.(1309-1311)cCa>cTa p.P437L NM_032857 NP_116246 P83111 LACTB_HUMAN Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 437 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 TACCTCAAACCAGAAACAATG 0.423000 43 13 0 0 0.002450 0 0 EIF4G1 1981 broad.mit.edu 37 3 184045627 184045627 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:184045627C>T uc003fnp.3 + 25 4061 c.3790C>T c.(3790-3792)Cag>Tag p.Q1264* EIF4G1_uc010hxx.3_Nonsense_Mutation_p.Q1271*|EIF4G1_uc003fnt.3_Nonsense_Mutation_p.Q975*|EIF4G1_uc010hxy.3_Nonsense_Mutation_p.Q1271*|EIF4G1_uc003fnq.3_Nonsense_Mutation_p.Q1177*|EIF4G1_uc003fnr.3_Nonsense_Mutation_p.Q1100*|EIF4G1_uc003fns.3_Nonsense_Mutation_p.Q1224*|EIF4G1_uc003fnv.4_Nonsense_Mutation_p.Q1265*|EIF4G1_uc003fnw.3_Nonsense_Mutation_p.Q1271*|EIF4G1_uc003fnx.3_Nonsense_Mutation_p.Q1069* NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 1264 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGCAGTCCAGTGCGTGCA 0.612000 19 20 0 0 0.002780 0 0 KCTD20 222658 broad.mit.edu 37 6 36449397 36449397 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:36449397C>T uc003ome.3 + 5 1108 c.717C>T c.(715-717)ctC>ctT p.L239L KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Silent_p.L73L|KCTD20_uc011dto.2_5'UTR|KCTD20_uc011dtm.2_Silent_p.L94L NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA. 239 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 ATCACTACCTCGAAGAGCTCA 0.478000 39 44 0 0 0.003610 0 0 PRKG2 5593 broad.mit.edu 37 4 82126026 82126026 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:82126026G>A uc003hmh.2 - 0 189 c.176C>T c.(175-177)tCg>tTg p.S59L PRKG2_uc011cch.1_Missense_Mutation_p.S59L NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 59 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity p.S59L(3) NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AGTCTGCTTCGACAGCTGCTC 0.557000 39 49 0 0 0.003610 0 0 RSBN1 54665 broad.mit.edu 37 1 114319871 114319871 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:114319871G>A uc001edq.3 - 3 1655 c.1619C>T c.(1618-1620)cCt>cTt p.P540L RSBN1_uc001edr.3_Non-coding_Transcript NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA. 540 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCTGCTGTAGGGATCATCTG 0.423000 58 27 0 0 0.007291 0 0 RBM15 64783 broad.mit.edu 37 1 110882213 110882213 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:110882213G>A uc001dzl.1 + 0 269 c.186G>A c.(184-186)gaG>gaA p.E62E RBM15_uc001dzm.1_Silent_p.E62E|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Silent_p.E62E NM_022768 NP_073605 Q96T37 RBM15_HUMAN Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA. 62 Gly/Ser-rich. interspecies interaction between organisms nucleus RNA binding|nucleotide binding|protein binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GTGGTGGTGAGGACTCGACTT 0.647000 T MKL1 acute megakaryocytic leukemia 17 8 0 0 0.008291 0 0 CLCN7 1186 broad.mit.edu 37 16 1505732 1505732 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:1505732G>A uc002clv.2 - 11 1091 c.981_splice c.e11+1 p.I327_splice CLCN7_uc002clw.2_Splice_Site_p.I303_splice NM_001287 NP_001278 P51798 CLCN7_HUMAN Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA. 327 integral to membrane|lysosomal membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) AGGAACTTACGATCCTCCAGG 0.637000 41 7 0 0 0.004482 0 0 MYO9A 4649 broad.mit.edu 37 15 72141213 72141213 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:72141213G>A uc002atl.4 - 38 7283 c.6810C>T c.(6808-6810)acC>acT p.T2270T MYO9A_uc002atk.3_Silent_p.T1065T NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 2270 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTGACAACCTGGTCTTTGCCT 0.383000 70 16 0 0 0.004007 0 0 CUL1 8454 broad.mit.edu 37 7 148486871 148486871 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:148486871G>A uc010lpg.3 + 14 2153 c.1627G>A c.(1627-1629)Ggg>Agg p.G543R CUL1_uc003wey.3_Missense_Mutation_p.G543R|CUL1_uc003wez.3_Missense_Mutation_p.G433R|CUL1_uc003wfa.3_Missense_Mutation_p.G204R NM_003592 NP_003583 Q13616 CUL1_HUMAN Homo sapiens cullin 1 (CUL1), mRNA. 543 G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination SCF ubiquitin ligase complex|cytosol|nucleoplasm ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCTGAGCTCCGGGTCCTGGCC 0.483000 90 79 0 0 0.003610 0 0 EPPK1 83481 broad.mit.edu 37 8 144946633 144946633 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:144946633C>T uc003zaa.1 - 0 802 c.789G>A c.(787-789)gaG>gaA p.E263E NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 263 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGCCTGCCCTCCCGCAGAC 0.701000 2 3 0 0 0.000248 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51916984 51916984 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:51916984G>A uc002pwo.3 - 9 2025 c.1803C>T c.(1801-1803)gtC>gtT p.V601V SIGLEC10_uc002pwp.3_Silent_p.V543V|SIGLEC10_uc021uyl.1_Silent_p.V423V|SIGLEC10_uc002pwq.3_Silent_p.V448V|SIGLEC10_uc010ycz.2_Silent_p.V458V|SIGLEC10_uc002pws.2_Silent_p.V358V|SIGLEC10_uc002pwr.3_Silent_p.V506V|SIGLEC10_uc010ycy.2_Silent_p.V416V|SIGLEC10_uc010eow.3_Silent_p.V318V|LOC100129083_uc021uym.1_5'Flank NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 601 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CAGCCGTCGGGACCACATTGA 0.537000 17 32 0 0 0.002445 0 0 NPC1L1 29881 broad.mit.edu 37 7 44573051 44573051 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:44573051G>A uc003tlb.3 - 7 2444 c.2388C>T c.(2386-2388)tcC>tcT p.S796S NPC1L1_uc011kbw.2_Silent_p.S796S|NPC1L1_uc003tlc.3_Silent_p.S796S|NPC1L1_uc003tld.3_3'UTR NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 796 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGCTGTCCAGGGAGAGCAGGG 0.627000 22 10 0 0 0.008291 0 0 OR8K3 219473 broad.mit.edu 37 11 56086623 56086623 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:56086623A>C uc010rjf.2 + 0 841 c.841A>C c.(841-843)Atc>Ctc p.I281L NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CACCCTGGTTATCCCCATGTT 0.368000 29 5 0 0 0.001168 0 0 MYOM2 9172 broad.mit.edu 37 8 2057237 2057237 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:2057237T>G uc003wpx.4 + 24 3233 c.3095T>G c.(3094-3096)gTt>gGt p.V1032G MYOM2_uc011kwi.2_Missense_Mutation_p.V457G NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1032 muscle contraction myosin filament structural constituent of muscle p.R1031R(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAGGGGCGGGTTCGCTTCTGG 0.443000 34 21 0 0 0.002780 0 0 PCDH15 65217 broad.mit.edu 37 10 55591205 55591205 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:55591205C>G uc010qhy.1 - 30 4482 c.4087G>C c.(4087-4089)Gag>Cag p.E1363Q PCDH15_uc010qhq.2_Missense_Mutation_p.E1363Q|PCDH15_uc010qhr.2_Missense_Mutation_p.E1358Q|PCDH15_uc021pqv.1_Missense_Mutation_p.E1358Q|PCDH15_uc021pqw.1_Missense_Mutation_p.E1370Q|PCDH15_uc010qht.2_Missense_Mutation_p.E1365Q|PCDH15_uc021pqx.1_Missense_Mutation_p.E1358Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1358Q|PCDH15_uc021pqz.1_Missense_Mutation_p.E1336Q|PCDH15_uc010qhv.1_Missense_Mutation_p.E1358Q|PCDH15_uc010qhw.1_Missense_Mutation_p.E1321Q|PCDH15_uc010qhx.1_Missense_Mutation_p.E1287Q|PCDH15_uc010qhz.1_Missense_Mutation_p.E1358Q|PCDH15_uc010qia.1_Missense_Mutation_p.E1336Q|PCDH15_uc001jju.1_Missense_Mutation_p.E1358Q|PCDH15_uc010qib.1_Missense_Mutation_p.E1336Q NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1358 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTCACTGCCTCTGGAGTCCGG 0.458000 HNSCC(58;0.16) 28 28 0 0 0.006320 0 0 CHD7 55636 broad.mit.edu 37 8 61693655 61693655 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:61693655C>T uc003xue.3 + 2 2254 c.1762C>T c.(1762-1764)Cca>Tca p.P588S CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 588 T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity p.556_871dup(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGATTACCTGCCATCAATAGA 0.453000 16 5 0 0 0.000602 0 0 ZNF709 163051 broad.mit.edu 37 19 12575099 12575099 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:12575099G>A uc002mtv.4 - 3 1798 c.1637C>T c.(1636-1638)tCc>tTc p.S546F ZNF709_uc002mtw.4_Missense_Mutation_p.S514F|ZNF709_uc002mtx.4_Missense_Mutation_p.S546F NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TATTCGAATGGAACTGGAACA 0.418000 57 55 0 0 0.003610 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391512 139391512 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:139391512G>A uc004chz.3 - 33 6679 c.6679C>T c.(6679-6681)Ccg>Tcg p.P2227S NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 2227 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.S2163_T2283del(2)|p.K2182fs*61(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCACGGACGGAGACTGCTGG 0.701000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 7 0 0 0.003080 0 0 TJP1 7082 broad.mit.edu 37 15 30058537 30058537 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:30058537C>T uc001zcr.3 - 4 996 c.521G>A c.(520-522)cGg>cAg p.R174Q TJP1_uc010azl.3_Missense_Mutation_p.R162Q|TJP1_uc001zcq.3_Missense_Mutation_p.R178Q|TJP1_uc001zcs.3_Missense_Mutation_p.R174Q NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 174 cell-cell junction assembly|cellular component disassembly involved in apoptosis Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) AGCCACTGACCGCCTGTCTGA 0.507000 70 19 0 0 0.001523 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37494479 37494479 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:37494479C>T uc003aqt.1 - 2 375 c.313G>A c.(313-315)Gaa>Aaa p.E105K TMPRSS6_uc003aqs.1_Missense_Mutation_p.E114K|TMPRSS6_uc003aqu.3_Missense_Mutation_p.E105K NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 114 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TTGGCGGTTTCACTGCGGAAG 0.567000 119 114 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 106963163 106963163 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:106963163G>A uc021ser.1 - 268 c.10567C>T Parts of antibodies, mostly variable regions. AGCCTTGCAGGAAACCTTCAC 0.577000 43 12 0 0 0.001368 0 0 NCR1 9437 broad.mit.edu 37 19 55423586 55423586 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:55423586G>A uc002qib.2 + 6 771 c.733_splice c.e6+1 p.D245_splice NCR1_uc002qic.2_Splice_Site_p.D244_splice|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Splice_Site_p.D150_splice|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Splice_Site_p.D138_splice NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 245 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) ACTCCAGAAAGGTAAGTAGAC 0.517000 34 14 0 0 0.004007 0 0 PAK7 57144 broad.mit.edu 37 20 9538296 9538296 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:9538296C>T uc002wnl.2 - 7 2247 c.1702G>A c.(1702-1704)Gac>Aac p.D568N PAK7_uc002wnk.2_Missense_Mutation_p.D568N|PAK7_uc002wnj.2_Missense_Mutation_p.D568N|PAK7_uc010gby.1_Missense_Mutation_p.D568N NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 568 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTTTTTATGTCCCTGTGAATC 0.458000 25 32 0 0 0.002836 0 0 RAVER1 125950 broad.mit.edu 37 19 10433941 10433941 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:10433941G>A uc002moa.3 - 4 1089 c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA. 320 Interaction with PTBP1 (By similarity). cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CCCTTCCCCCGATTGAGGGCC 0.672000 13 10 0 0 0.008291 0 0 DPP6 1804 broad.mit.edu 37 7 154172103 154172103 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:154172103C>T uc003wlk.3 + 2 567 c.438C>T c.(436-438)ccC>ccT p.P146P DPP6_uc003wli.3_Silent_p.P82P|DPP6_uc003wlj.3_Silent_p.P146P|DPP6_uc010lqh.1_Silent_p.P84P|DPP6_uc003wlm.3_Silent_p.P84P|DPP6_uc011kvq.2_Silent_p.P84P NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 146 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.P146P(2)|p.P84P(1)|p.P82P(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTCATGACCCCGAGGCTAAGT 0.433000 48 25 0 0 0.005443 0 0 DRD1 1812 broad.mit.edu 37 5 174868954 174868954 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:174868954C>T uc003mcz.3 - 1 2094 c.1149G>A c.(1147-1149)aaG>aaA p.K383K DRD1_uc021yia.1_Silent_p.K383K NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 383 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GATTGCACTCCTTGGAGATGG 0.537000 23 43 0 0 0.002222 0 0 ATP10A 57194 broad.mit.edu 37 15 25924899 25924899 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:25924899G>A uc010ayu.3 - 20 4195 c.4089C>T c.(4087-4089)tcC>tcT p.S1363S NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 1363 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGGCCTCCAGGGAGCAGACCG 0.657000 27 18 0 0 0.008871 0 0 ARID1B 57492 broad.mit.edu 37 6 157528639 157528639 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:157528639C>T uc003qqp.3 + 18 6325 c.6325C>T c.(6325-6327)Cgc>Tgc p.R2109C ARID1B_uc003qqo.3_Missense_Mutation_p.R2122C|ARID1B_uc003qqn.3_Missense_Mutation_p.R2162C NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 2109 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGTTGGGGATCGCAAAAACCC 0.488000 121 82 0 0 0.003610 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770324 31770324 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:31770324G>A uc002nsy.4 - 1 440 c.375C>T c.(373-375)ttC>ttT p.F125F NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 125 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGTTGGAGAGGAAGTTGTTGT 0.567000 21 17 0 0 0.004990 0 0 FAM5C 339479 broad.mit.edu 37 1 190195314 190195314 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:190195314G>A uc001gse.1 - 5 1091 c.859C>T c.(859-861)Cca>Tca p.P287S FAM5C_uc010pot.1_Missense_Mutation_p.P185S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 287 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTGCATTCTGGAAATTTGGGA 0.438000 47 16 0 0 0.001523 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589625 11589625 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:11589625C>T uc001ash.4 + 13 2949 c.2811C>T c.(2809-2811)ttC>ttT p.F937F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 937 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCTGTACTTCGCCCAGTCCC 0.652000 22 15 0 0 0.001523 0 0 HRNR 388697 broad.mit.edu 37 1 152192069 152192069 + Missense_Mutation SNP C T T rs140281819 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152192069C>T uc001ezt.1 - 2 2112 c.2036G>A c.(2035-2037)gGg>gAg p.G679E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 679 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCCAGACCCATGTTGGCC 0.592000 76 78 0 0 0.003610 0 0 OR10P1 121130 broad.mit.edu 37 12 56030906 56030906 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:56030906C>T uc010spq.2 + 0 231 c.231C>T c.(229-231)atC>atT p.I77I NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I77I(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CCACTGACATCGTGCCCAGGA 0.592000 10 26 0 0 0.003954 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635724 141635724 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:141635724G>A uc003vwv.1 - 4 432 c.235C>T c.(235-237)Caa>Taa p.Q79* CLEC5A_uc011krm.1_Nonsense_Mutation_p.Q56*|CLEC5A_uc003vww.1_Nonsense_Mutation_p.Q79*|CLEC5A_uc010lnq.1_Nonsense_Mutation_p.Q56*|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 79 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) CATCTTGCTTGATAAAATTCC 0.413000 37 15 0 0 0.002450 0 0 CTNNA3 29119 broad.mit.edu 37 10 67726392 67726392 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:67726392C>T uc009xpn.1 - 16 2501 c.2378G>A c.(2377-2379)gGa>gAa p.G793E CTNNA3_uc001jmw.2_Missense_Mutation_p.G793E NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 793 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GAGCTCTCCTCCCAGGTTCTG 0.448000 49 12 0 0 0.003163 0 0 SEL1L3 23231 broad.mit.edu 37 4 25836876 25836876 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:25836876G>A uc003gru.4 - 2 955 c.803C>T c.(802-804)cCg>cTg p.P268L NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 268 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CCGAAACCTCGGGAACTTCTT 0.532000 62 48 0 0 0.003610 0 0 MORC3 23515 broad.mit.edu 37 21 37736479 37736479 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:37736479C>T uc002yvi.3 + 13 1617 c.1541C>T c.(1540-1542)tCa>tTa p.S514L NM_015358 NP_056173 Q14149 MORC3_HUMAN Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA. 514 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization PML body|aggresome|intermediate filament cytoskeleton ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 AGACATCTTTCAGAAGGAACA 0.413000 19 13 0 0 0.001368 0 0 MUC17 140453 broad.mit.edu 37 7 100686845 100686845 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100686845G>A uc003uxp.1 + 2 12201 c.12148G>A c.(12148-12150)Gaa>Aaa p.E4050K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4050 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCCTTCATCAGAATCCAGCAG 0.532000 47 45 0 0 0.002522 0 0 P2RY10 27334 broad.mit.edu 37 X 78216644 78216644 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:78216644C>T uc022bzl.1 + 0 627 c.627C>T c.(625-627)atC>atT p.I209I P2RY10_uc004ede.3_Silent_p.I209I|P2RY10_uc004edf.3_Silent_p.I209I NM_198333 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA. 209 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GATTTGTGATCCCAGTGATCA 0.468000 19 20 0 0 0.002299 0 0 ZNF639 51193 broad.mit.edu 37 3 179051056 179051056 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:179051056G>A uc003fjr.1 + 7 750 c.305_splice c.e7-1 p.E102_splice ZNF639_uc003fjq.1_Splice_Site_p.E102_splice NM_016331 NP_057415 Q9UID6 ZN639_HUMAN Homo sapiens zinc finger protein 639 (ZNF639), mRNA. 102 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TTATTCTTCAGAAAAATCTGC 0.318000 10 7 0 0 0.001984 0 0 CR1L 1379 broad.mit.edu 37 1 207890877 207890877 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:207890877C>T uc001hga.4 + 10 1604 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 495 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGGAGATATTCCCTATGGAAA 0.458000 76 27 0 0 0.006320 0 0 C4orf17 84103 broad.mit.edu 37 4 100460382 100460382 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:100460382C>T uc003huw.3 + 6 1053 c.691C>T c.(691-693)Cac>Tac p.H231Y C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 231 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) GTTAACTCATCACAGAAGAAA 0.443000 68 69 0 0 0.003610 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455305 70455305 + Nonsense_Mutation SNP G A A rs139303872 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:70455305G>A uc011caq.2 - 6 1983 c.1867C>T c.(1867-1869)Cga>Tga p.R623* UGT2A1_uc010ihu.3_Nonsense_Mutation_p.R457*|UGT2A1_uc003hem.4_Nonsense_Mutation_p.R457*|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.R466*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.R422*|UGT2A1_uc010iht.3_Nonsense_Mutation_p.R413* NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 457 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity p.R457*(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AAGACTGCTCGATCCAGGGGC 0.448000 97 29 0 0 0.006320 0 0 PRRC2A 7916 broad.mit.edu 37 6 31595634 31595634 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:31595634C>T uc003nvb.4 + 11 1632 c.1383C>T c.(1381-1383)tcC>tcT p.S461S PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.S461S NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 461 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTGAGATTTCCCTGGCAGTGG 0.627000 18 34 0 0 0.006230 0 0 TRIM35 23087 broad.mit.edu 37 8 27145561 27145562 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:27145561_27145562GG>AA uc003xfl.1 - 5 1069_1070 c.987_988CC>TT c.(985-990)taccgc>taTTgc p.R330C TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA. 330 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACCTGCACGCGGTAGCCATGGT 0.653000 21 14 0 0 0.004672 0 0 DCX 1641 broad.mit.edu 37 X 110644262 110644262 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:110644262C>T uc004epd.3 - 2 1076 c.904G>A c.(904-906)Gag>Aag p.E302K DCX_uc011msv.2_Missense_Mutation_p.E302K|DCX_uc004epe.3_Missense_Mutation_p.E221K|DCX_uc004epf.3_Missense_Mutation_p.E221K|DCX_uc004epg.3_Missense_Mutation_p.E221K NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 302 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 ACCCCGGTCTCCAGTTTGATG 0.443000 2 62 0 0 0.003610 0 0 AGTR2 186 broad.mit.edu 37 X 115304028 115304028 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:115304028C>T uc022cdd.1 + 0 495 c.495C>T c.(493-495)ccC>ccT p.P165P AGTR2_uc004eqh.4_Silent_p.P165P NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 165 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity p.P165S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 ATATAGTTCCCCTTGTTTGGT 0.398000 59 41 0 0 0.002522 0 0 FBXO15 201456 broad.mit.edu 37 18 71740886 71740886 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:71740886C>T uc002llf.2 - 9 1423 c.1343G>A c.(1342-1344)aGa>aAa p.R448K FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.R372K NM_001142958 NP_689889 Q8NCQ5 FBX15_HUMAN Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA. 372 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GGCAGGCGATCTCAGGCACAC 0.502000 75 33 0 0 0.002836 0 0 NES 10763 broad.mit.edu 37 1 156642501 156642501 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:156642501G>A uc001fpq.3 - 3 1612 c.1479C>T c.(1477-1479)tgC>tgT p.C493C NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 493 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTCCCCTCGGCATATGCTGA 0.537000 57 60 0 0 0.003610 0 0 CXCR4 7852 broad.mit.edu 37 2 136873224 136873224 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:136873224G>A uc002tuz.3 - 1 369 c.274C>T c.(274-276)Ccc>Tcc p.P92S CXCR4_uc002tuy.3_Missense_Mutation_p.P96S|CXCR4_uc010fnk.3_Missense_Mutation_p.P77S NM_003467 NP_003458 P61073 CXCR4_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA. 92 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GCCCAGAAGGGAAGCGTGATG 0.522000 33 16 0 0 0.003163 0 0 SORL1 6653 broad.mit.edu 37 11 121428100 121428100 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:121428100C>T uc001pxx.3 + 18 2778 c.2649C>T c.(2647-2649)ctC>ctT p.L883L NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 883 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTCTGGTCCTCGTGCCCCAAG 0.493000 19 16 0 0 0.006122 0 0 KHDC1 80759 broad.mit.edu 37 6 73951846 73951846 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:73951846C>T uc003pgo.3 - 3 947 c.446G>A c.(445-447)aGg>aAg p.R149K KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.R76K NM_001251874 NP_001238803 Q4VXA5 KHDC1_HUMAN Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA. 149 KH; atypical. integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 CTGCCTTGCCCTGTGTGGTCC 0.532000 14 9 0 0 0.006214 0 0 IPPK 64768 broad.mit.edu 37 9 95400522 95400522 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:95400522G>A uc004asl.1 - 8 954 c.677C>T c.(676-678)cCc>cTc p.P226L IPPK_uc004ask.1_5'Flank NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA. 226 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 GTCAGCCACGGGGCTCCGGGC 0.557000 36 13 0 0 0.002450 0 0 SLC25A31 83447 broad.mit.edu 37 4 128685486 128685486 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:128685486G>A uc003ifl.3 + 2 595 c.449G>A c.(448-450)cGa>cAa p.R150Q NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 150 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity p.R150Q(2) NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 GATTTTGCCCGAACCCGATTA 0.388000 26 37 0 0 0.006230 0 0 CR1 1378 broad.mit.edu 37 1 207741343 207741343 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:207741343G>A uc001hfy.3 + 16 2917 c.2777G>A c.(2776-2778)gGg>gAg p.G926E CR1_uc009xcl.1_Missense_Mutation_p.G476E|CR1_uc001hfx.3_Missense_Mutation_p.G1376E|CR1_uc021pij.1_Missense_Mutation_p.G926E|CR1_uc009xck.1_Missense_Mutation_p.G476E NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 926 Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GACCCTCAAGGGAATGGGGTT 0.547000 38 26 0 0 0.004289 0 0 SLC3A1 6519 broad.mit.edu 37 2 44540973 44540973 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:44540973G>A uc002ruc.4 + 9 1579 c.1501_splice c.e9-1 p.N501_splice SLC3A1_uc002rua.3_Splice_Site_p.N501_splice|SLC3A1_uc002rub.2_Splice_Site_p.N501_splice|SLC3A1_uc002rud.4_Splice_Site_p.N223_splice|SLC3A1_uc002rue.4_Splice_Site_p.N121_splice NM_000341 NP_000332 Q07837 SLC31_HUMAN Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. 501 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) TTTTGACATAGAATACCCTTC 0.378000 29 8 0 0 0.004482 0 0 PIM1 5292 broad.mit.edu 37 6 37140845 37140845 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:37140845C>T uc003onk.3 + 4 1111 c.681C>T c.(679-681)tcC>tcT p.S227S PIM1_uc011dtw.2_Missense_Mutation_p.P96L NM_002648 NP_002639 P11309 PIM1_HUMAN Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA. 318 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CAGTCTGGTCCCTGGGGATCC 0.542000 T BCL6 NHL 67 27 0 0 0.003954 0 0 TPST1 8460 broad.mit.edu 37 7 65706081 65706081 + Nonsense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:65706081T>A uc003tuw.3 + 1 1021 c.669T>A c.(667-669)taT>taA p.Y223* TPST1_uc010kzy.2_Intron NM_003596 NP_003587 O60507 TPST1_HUMAN Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA. 223 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 AGACCATGTATAACCAGTGTA 0.383000 22 16 0 0 0.003163 0 0 TEX15 56154 broad.mit.edu 37 8 30699662 30699662 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:30699662G>A uc003xil.3 - 0 6872 c.6872C>T c.(6871-6873)tCt>tTt p.S2291F NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 2291 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CAACATCGTAGAAATACTAAA 0.338000 38 9 0 0 0.004482 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54914848 54914848 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:54914848C>T uc003dhf.3 + 20 1918 c.1870C>T c.(1870-1872)Cat>Tat p.H624Y CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.H530Y|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.H358Y|AK092143_uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 624 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTCCAGAGGTCATGGGAAATA 0.463000 168 47 0 0 0.003610 0 0 OR2C3 81472 broad.mit.edu 37 1 247695323 247695323 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:247695323G>A uc021pmb.1 - 0 491 c.491C>T c.(490-492)aCc>aTc p.T164I C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.T164I NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TAGGAGCATGGTGAGCGTGGA 0.547000 10 12 0 0 0.001368 0 0 TP63 8626 broad.mit.edu 37 3 189612028 189612028 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:189612028C>T uc003fry.2 + 13 1869 c.1780C>T c.(1780-1782)Cga>Tga p.R594* TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Nonsense_Mutation_p.R500*|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Nonsense_Mutation_p.R415* NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 594 SAM. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R594*(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGAGCAATTTCGACATGCGAT 0.532000 HNSCC(45;0.13) 18 25 0 0 0.003954 0 0 ACSM5 54988 broad.mit.edu 37 16 20422863 20422863 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:20422863C>T uc002dhe.3 + 1 204 c.57C>T c.(55-57)ttC>ttT p.F19F ACSM5_uc002dhd.1_Silent_p.F19F NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 19 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CCAGGGCATTCTGTGGGTCTC 0.572000 19 17 0 0 0.006122 0 0 ZNF334 55713 broad.mit.edu 37 20 45131127 45131127 + Missense_Mutation SNP C T T rs138146245 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:45131127C>T uc002xsa.3 - 3 1382 c.920G>A c.(919-921)cGa>cAa p.R307Q ZNF334_uc002xsb.3_Missense_Mutation_p.R246Q|ZNF334_uc002xsd.3_Missense_Mutation_p.R246Q|ZNF334_uc002xsc.3_Missense_Mutation_p.R284Q|ZNF334_uc010ghl.3_Missense_Mutation_p.R283Q Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATGAATTCTTCGGTGTCGAGT 0.423000 55 25 0 0 0.004656 0 0 F13B 2165 broad.mit.edu 37 1 197029561 197029561 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:197029561A>G uc001gtt.1 - 4 784 c.740T>C c.(739-741)cTa>cCa p.L247P NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 247 Sushi 4. blood coagulation extracellular region p.Y246D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AGATCCACTTAGATAATAATT 0.308000 53 56 0 0 0.003610 0 0 STK36 27148 broad.mit.edu 37 2 219564066 219564066 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:219564066C>T uc002viu.3 + 25 4078 c.3799C>T c.(3799-3801)Cat>Tat p.H1267Y STK36_uc002viv.3_Missense_Mutation_p.H1246Y|STK36_uc002vix.3_Missense_Mutation_p.H312Y NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 1267 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.H1267R(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCCTGGCATCCATCAGGTATA 0.527000 33 15 0 0 0.004007 0 0 OR2F1 26211 broad.mit.edu 37 7 143657855 143657855 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:143657855C>T uc003wds.1 + 0 836 c.792C>T c.(790-792)tcC>tcT p.S264S NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AGCCCCACTCCAGTCCCTCTG 0.473000 46 12 0 0 0.001368 0 0 COL24A1 255631 broad.mit.edu 37 1 86200455 86200455 + Nonsense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:86200455T>A uc001dlj.3 - 58 5050 c.4975A>T c.(4975-4977)Aaa>Taa p.K1659* COL24A1_uc001dli.3_Nonsense_Mutation_p.K774*|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Nonsense_Mutation_p.K959*|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1659 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GAAAGCACTTTAGGTTCAAGT 0.363000 65 26 0 0 0.007291 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868621 112868621 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:112868621T>G uc003kqn.3 + 4 923 c.721T>G c.(721-723)Tgc>Ggc p.C241G YTHDC2_uc010jce.2_Missense_Mutation_p.C241G|YTHDC2_uc010jcf.2_5'UTR NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN Homo sapiens YTH domain containing 2 (YTHDC2), mRNA. 241 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGTATCCCCTGCCGTATATT 0.378000 23 35 0 0 0.008740 0 0 CYYR1 116159 broad.mit.edu 37 21 27840827 27840827 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:27840827C>T uc002yme.3 - 3 783 c.461G>A c.(460-462)aGg>aAg p.R154K CYYR1_uc002ymd.3_Missense_Mutation_p.R153K|CYYR1_uc011ack.2_Non-coding_Transcript NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 153 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 AGATTATTTCCTTGCGTTTCC 0.512000 22 29 0 0 0.001786 0 0 RUVBL2 10856 broad.mit.edu 37 19 49502594 49502594 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:49502594C>T uc002plr.1 + 1 44 c.31C>T c.(31-33)Ccg>Tcg p.P11S RUVBL2_uc010yab.2_Missense_Mutation_p.P11S|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_5'UTR NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA. 11 DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) AACCAAAGTCCCGGAGATCCG 0.552000 51 16 0 0 0.001523 0 0 ZNF512 84450 broad.mit.edu 37 2 27821046 27821046 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:27821046C>T uc002rla.3 + 2 289 c.202C>T c.(202-204)Cca>Tca p.P68S ZNF512_uc010ylw.2_Missense_Mutation_p.P67S|ZNF512_uc002rlb.3_5'UTR|ZNF512_uc010ylx.2_5'UTR|ZNF512_uc002rlc.3_5'UTR|ZNF512_uc010ylv.2_5'UTR|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_5'UTR NM_032434 NP_115810 Q96ME7 ZN512_HUMAN Homo sapiens zinc finger protein 512 (ZNF512), mRNA. 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) GAGTGATTTTCCAGCATCTTT 0.418000 18 49 0 0 0.003610 0 0 FAM179B 23116 broad.mit.edu 37 14 45537771 45537771 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:45537771A>T uc001wvw.3 + 17 5103 c.4894A>T c.(4894-4896)Aac>Tac p.N1632Y FAM179B_uc001wvv.3_Missense_Mutation_p.N1579Y|FAM179B_uc010anc.3_Non-coding_Transcript NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 1579 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AATAGTGGATAACAATCTGAA 0.408000 31 25 0 0 0.004656 0 0 DNAH8 1769 broad.mit.edu 37 6 38831663 38831663 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:38831663G>A uc021yzh.1 + 44 6434 c.6325G>A c.(6325-6327)Ggt>Agt p.G2109S DNAH8_uc003ooe.2_Missense_Mutation_p.G1892S 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 TGCACAGTCGGGTTCCTGGGG 0.363000 33 57 0 0 0.003610 0 0 TACC2 10579 broad.mit.edu 37 10 123996969 123996969 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:123996969C>T uc001lfv.3 + 16 8547 c.8187C>T c.(8185-8187)atC>atT p.I2729I TACC2_uc001lfw.3_Silent_p.I875I|TACC2_uc009xzx.3_Silent_p.I2607I|TACC2_uc010qtv.2_Silent_p.I2656I|TACC2_uc001lfx.3_Silent_p.I356I|TACC2_uc001lfy.3_Silent_p.I352I|TACC2_uc001lfz.3_Silent_p.I807I|TACC2_uc001lga.3_Silent_p.I777I|TACC2_uc009xzy.3_Silent_p.I789I|TACC2_uc001lgb.3_Silent_p.I687I NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2729 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACTCCCGCATCGGGACCGCTG 0.527000 20 20 0 0 0.008871 0 0 PLCG2 5336 broad.mit.edu 37 16 81962178 81962178 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:81962178C>T uc002fgt.3 + 23 2708 c.2530C>T c.(2530-2532)Ccc>Tcc p.P844S NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 844 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TGAAGACAATCCCTTAGGGTC 0.428000 33 38 0 0 0.002222 0 0 C18orf54 162681 broad.mit.edu 37 18 51888050 51888050 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:51888050C>T uc002lfo.4 + 1 367 c.321C>T c.(319-321)ttC>ttT p.F107F C18orf54_uc002lfn.4_Silent_p.F107F NM_173529 NP_775800 Q8IYD9 CR054_HUMAN Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA. 107 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) ACTCAAACTTCATATCCTGTA 0.323000 17 8 0 0 0.003080 0 0 HTR1A 3350 broad.mit.edu 37 5 63256820 63256820 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:63256820C>T uc011cqt.2 - 0 727 c.727G>A c.(727-729)Gga>Aga p.G243R NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 243 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGAGATGCTCCATGGCGGGTG 0.627000 15 19 0 0 0.005443 0 0 VPS13D 55187 broad.mit.edu 37 1 12353750 12353750 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:12353750G>A uc001atv.3 + 23 6163 c.6022G>A c.(6022-6024)Gag>Aag p.E2008K VPS13D_uc001atw.3_Missense_Mutation_p.E2008K|VPS13D_uc001atx.3_Missense_Mutation_p.E1196K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2008 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGCTGCTATTGAGGGGCAGAC 0.517000 22 8 0 0 0.003080 0 0 ASPM 259266 broad.mit.edu 37 1 197099171 197099171 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:197099171G>T uc001gtu.3 - 7 2760 c.2503C>A c.(2503-2505)Ctc>Atc p.L835I ASPM_uc001gtv.3_Missense_Mutation_p.L835I|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 835 mitosis cytoplasm|nucleus calmodulin binding p.E834*(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AAAGATATGAGTTCTCCATAA 0.388000 34 28 3.65163e-15 5.05287e-15 0.006320 1 0 CSMD2 114784 broad.mit.edu 37 1 34238196 34238196 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:34238196C>T uc001bxm.1 - 12 1997 c.1820G>A c.(1819-1821)tGg>tAg p.W607* CSMD2_uc001bxn.1_Nonsense_Mutation_p.W567* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 567 CUB 4. integral to membrane|plasma membrane protein binding p.W567*(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTTAGCCGACCATTGGTTATT 0.577000 42 20 0 0 0.002780 0 0 SAP130 79595 broad.mit.edu 37 2 128757395 128757395 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:128757395G>A uc010fmd.2 - 9 1343 c.1211C>T c.(1210-1212)cCc>cTc p.P404L SAP130_uc002tpn.2_Missense_Mutation_p.P165L|SAP130_uc002tpp.2_Missense_Mutation_p.P404L|SAP130_uc002tpq.1_Missense_Mutation_p.P377L NM_001145928 NP_001139400 Q9H0E3 SP130_HUMAN Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA. 404 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGTACTTGTGGGAGCTTGCGT 0.473000 22 46 0 0 0.003610 0 0 DNAJB8 165721 broad.mit.edu 37 3 128182073 128182073 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:128182073C>T uc003ekk.1 - 2 1677 c.16G>A c.(16-18)Gaa>Aaa p.E6K DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.E6K NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 6 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) CCCAGCACTTCGTAGTAGTTA 0.627000 52 18 0 0 0.001882 0 0 KCNK15 60598 broad.mit.edu 37 20 43378776 43378776 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:43378776G>A uc002xmr.3 + 1 354 c.290G>A c.(289-291)gGc>gAc p.G97D NM_022358 NP_071753 Q9H427 KCNKF_HUMAN Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA. 97 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) ATAGAGTACGGCCACGCCGCG 0.687000 8 3 0 0 0.000248 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413025 19413025 + RNA SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:19413025A>G uc010tcj.1 - 0 c.33085T>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AATAACCTGCACATCCATGCA 0.299000 37 4 0 0 0.000248 0 0 TTN 7273 broad.mit.edu 37 2 179585319 179585319 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179585319C>T uc021vsy.1 - 76 19663 c.19438G>A c.(19438-19440)Gaa>Aaa p.E6480K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3141K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7407 Ig-like 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R6479S(1)|p.E6480K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCGAAATTTCACATTGGAGA 0.388000 15 7 0 0 0.003080 0 0 TATDN2 9797 broad.mit.edu 37 3 10311828 10311828 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:10311828A>G uc011atr.2 + 3 1543 c.962A>G c.(961-963)gAg>gGg p.E321G TATDN2_uc003bvg.2_Missense_Mutation_p.E321G|TATDN2_uc003bvf.3_Missense_Mutation_p.E321G|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 321 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 AAAGATAGGGAGGTGGTGATG 0.507000 62 13 0 0 0.001855 0 0 NLRP13 126204 broad.mit.edu 37 19 56423175 56423175 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:56423175C>T uc010ygg.2 - 4 2033 c.2008G>A c.(2008-2010)Gaa>Aaa p.E670K NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 670 ATP binding p.E670*(2)|p.E669K(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCTTGGAGTTCTTCGTCCTCC 0.408000 47 25 0 0 0.003330 0 0 SLC12A1 6557 broad.mit.edu 37 15 48539563 48539563 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:48539563C>T uc001zwn.4 + 12 1806 c.1590C>T c.(1588-1590)gcC>gcT p.A530A SLC12A1_uc010uew.1_Silent_p.A336A|SLC12A1_uc010bem.3_Silent_p.A530A|SLC12A1_uc001zwq.4_Silent_p.A301A|SLC12A1_uc001zwr.4_Silent_p.A257A NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 530 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TCTACAAAGCCCTGCAGTTTT 0.368000 35 25 0 0 0.002096 0 0 LY9 4063 broad.mit.edu 37 1 160783507 160783507 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:160783507C>T uc001fwu.3 + 2 586 c.536C>T c.(535-537)tCc>tTc p.S179F LY9_uc010pjs.1_Missense_Mutation_p.S179F|LY9_uc001fwv.3_Missense_Mutation_p.S179F|LY9_uc001fww.3_Missense_Mutation_p.S179F|LY9_uc001fwy.1_Missense_Mutation_p.S81F|LY9_uc001fwz.3_5'Flank NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 179 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTAATGTGCTCCGTGAAGGGG 0.532000 36 29 0 0 0.007291 0 0 THRAP3 9967 broad.mit.edu 37 1 36748237 36748237 + Missense_Mutation SNP C T T rs147227162 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:36748237C>T uc001cae.4 + 2 297 c.73C>T c.(73-75)Cgt>Tgt p.R25C THRAP3_uc001caf.4_Missense_Mutation_p.R25C|THRAP3_uc001cag.1_Missense_Mutation_p.R25C NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 25 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ATCTCGTTCTCGTTCATTTTC 0.443000 T USP6 aneurysmal bone cysts 16 20 0 0 0.008871 0 0 CDH24 64403 broad.mit.edu 37 14 23517611 23517611 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:23517611C>T uc001wil.3 - 12 2298 c.2038G>A c.(2038-2040)Gag>Aag p.E680K CDH24_uc010akf.3_Missense_Mutation_p.E642K NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 680 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) ATGATGTTCTCTCGGACGTCC 0.682000 58 11 0 0 0.001368 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742376 10742376 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:10742376G>A uc002mpf.3 + 7 716 c.577G>A c.(577-579)Gat>Aat p.D193N SLC44A2_uc002mpe.4_Missense_Mutation_p.D191N NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 193 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GACCTATGAGGATGGGCATGG 0.607000 15 11 0 0 0.001855 0 0 TRRAP 8295 broad.mit.edu 37 7 98606073 98606073 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:98606073G>A uc003upp.3 + 68 10994 c.10785G>A c.(10783-10785)gaG>gaA p.E3595E TRRAP_uc011kis.2_Silent_p.E3566E|TRRAP_uc003upr.3_Silent_p.E3301E NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3595 PI3K/PI4K. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCTTGTGGAGATCTACAAGC 0.612000 51 35 0 0 0.003755 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912776 94912776 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94912776C>T uc001ydd.1 - 2 869 c.809G>A c.(808-810)gGa>gAa p.G270E NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 270 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) CAAGGCATTTCCTCTGTATTC 0.542000 47 20 0 0 0.001523 0 0 APOA5 116519 broad.mit.edu 37 11 116661143 116661143 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:116661143C>T uc009yzg.3 - 1 1312 c.880G>A c.(880-882)Gaa>Aaa p.E294K ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.E268K|APOA5_uc009yzf.3_Missense_Mutation_p.E268K Q6Q788 APOA5_HUMAN Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA. 268 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CCGGCCCCTTCCTCAGTCCCA 0.652000 3 64 0 0 0.003610 0 0 EXTL3 2137 broad.mit.edu 37 8 28573590 28573590 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:28573590C>T uc003xgz.1 + 2 607 c.14C>T c.(13-15)aCc>aTc p.T5I NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 5 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) ACAGGCTATACCATGCTGCGG 0.592000 26 15 0 0 0.006122 0 0 GFRAL 389400 broad.mit.edu 37 6 55196546 55196546 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:55196546C>T uc003pcm.1 + 1 142 c.56C>T c.(55-57)tCc>tTc p.S19F NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 19 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GAATACACTTCCCAAACCAAT 0.343000 24 25 0 0 0.004656 0 0 ADAM18 8749 broad.mit.edu 37 8 39581281 39581281 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:39581281G>A uc003xni.3 + 18 2087 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E654K NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 678 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CTTTTATACTGAAAAAGGCTA 0.299000 45 50 0 0 0.003610 0 0 CTNNA3 29119 broad.mit.edu 37 10 67680180 67680180 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:67680180C>T uc009xpn.1 - 17 2719 c.2596G>A c.(2596-2598)Gaa>Aaa p.E866K CTNNA3_uc001jmw.2_Missense_Mutation_p.E866K NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 866 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GCACACGTTTCCTCTGGCTTC 0.468000 46 37 0 0 0.004878 0 0 PRDM14 63978 broad.mit.edu 37 8 70980555 70980555 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:70980555G>A uc003xym.3 - 3 1024 c.822C>T c.(820-822)atC>atT p.I274I NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 274 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTCCTTTGGCGATAAAACTAC 0.478000 49 15 0 0 0.003163 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20304957 20304957 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:20304957C>T uc001bcu.3 - 2 319 c.101G>A c.(100-102)gGa>gAa p.G34E PLA2G2A_uc001bcv.3_Missense_Mutation_p.G34E|PLA2G2A_uc010oda.2_Missense_Mutation_p.G34E|PLA2G2A_uc010odb.2_Missense_Mutation_p.G34E NM_001161729 NP_001155201 P14555 PA2GA_HUMAN Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA. 34 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTCCTTTCCTGTCGTCAA 0.552000 22 10 0 0 0.001368 0 0 PRMT5 10419 broad.mit.edu 37 14 23395485 23395486 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:23395485_23395486GG>AA uc001whm.1 - 6 724_725 c.633_634CC>TT c.(631-636)gacctc>gaTTtc p.L212F PRMT5_uc001whl.1_Missense_Mutation_p.L195F|PRMT5_uc010tnf.1_Missense_Mutation_p.L106F|PRMT5_uc010tnh.1_Missense_Mutation_p.L168F|PRMT5_uc010tng.1_Missense_Mutation_p.L151F|PRMT5_uc001whn.1_Intron NM_006109 NP_006100 O14744 ANM5_HUMAN Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA. 212 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TTAGATGGGAGGTCAGCCCCAA 0.470000 48 34 0 0 0.004672 0 0 LIFR 3977 broad.mit.edu 37 5 38504110 38504110 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:38504110C>T uc010ive.1 - 9 1737 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K LIFR_uc003jli.2_Missense_Mutation_p.E469K NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 469 Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTCTTAATTTCAATTTCACAT 0.289000 T PLAG1 salivary adenoma 69 22 0 0 0.001882 0 0 ARID2 196528 broad.mit.edu 37 12 46246331 46246331 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:46246331C>T uc001ros.1 + 14 4425 c.4425C>T c.(4423-4425)acC>acT p.T1475T ARID2_uc001ror.3_Silent_p.T1475T|ARID2_uc009zkg.1_Silent_p.T931T|ARID2_uc009zkh.1_Silent_p.T1102T|ARID2_uc001rou.1_Silent_p.T809T NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1475 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATTCTACAACCTCTGTTATAC 0.443000 """N, S, F""" hepatocellular carcinoma 46 20 0 0 0.001523 0 0 ACAN 176 broad.mit.edu 37 15 89402194 89402194 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:89402194C>T uc010upo.1 + 11 6752 c.6378C>T c.(6376-6378)tcC>tcT p.S2126S ACAN_uc010upp.1_Silent_p.S2126S|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2126 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ATTCTGGGTCCCCTGATCTGA 0.552000 32 8 0 0 0.003080 0 0 GPRC6A 222545 broad.mit.edu 37 6 117150069 117150069 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:117150069G>A uc003pxj.1 - 0 130 c.108C>T c.(106-108)atC>atT p.I36I GPRC6A_uc003pxk.1_Silent_p.I36I|GPRC6A_uc003pxl.1_Silent_p.I36I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 36 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTCCAATTATGATATGTCCCG 0.428000 20 23 0 0 0.002780 0 0 KLF6 1316 broad.mit.edu 37 10 3822344 3822344 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:3822344G>A uc001iha.3 - 2 1021 c.754C>T c.(754-756)Cga>Tga p.R252* KLF6_uc010qaj.2_Intron|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Nonsense_Mutation_p.R210* NM_001300 NP_001291 Q99612 KLF6_HUMAN Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA. 252 B cell differentiation nucleus zinc ion binding p.R252*(2)|p.R252P(2) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) GTGTGCTTTCGGAAGTGCCTG 0.542000 19 25 0 0 0.005443 0 0 KIT 3815 broad.mit.edu 37 4 55602768 55602768 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:55602768C>T uc010igr.3 + 17 2676 c.2589C>T c.(2587-2589)ttC>ttT p.F863F KIT_uc010igs.3_Silent_p.F859F NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 863 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.L862L(6) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGGAGCTGTTCTCTTTAGGTA 0.418000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 40 53 0 0 0.003610 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766226 77766226 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:77766226G>A uc003yau.2 + 9 7456 c.7069G>A c.(7069-7071)Gat>Aat p.D2357N ZFHX4_uc003yaw.1_Missense_Mutation_p.D2312N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2312 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGATGCCACTGATCAAGTGGT 0.488000 HNSCC(33;0.089) 84 75 0 0 0.003610 0 0 DARC 2532 broad.mit.edu 37 1 159176192 159176192 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:159176192C>T uc001ftp.4 + 0 1144 c.969C>T c.(967-969)ctC>ctT p.L323L DARC_uc001fto.3_Silent_p.L321L NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 321 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTCTGCCCCTCCCTGAAGGAT 0.557000 182 57 0 0 0.003610 0 0 PARD6B 84612 broad.mit.edu 37 20 49354422 49354422 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:49354422T>A uc002xvo.3 + 1 338 c.95T>A c.(94-96)cTg>cAg p.L32Q NM_032521 NP_115910 Q9BYG5 PAR6B_HUMAN Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA. 32 OPR. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 CGGTTTTCGCTGGAAAGATCA 0.343000 31 28 0 0 0.007291 0 0 TARS2 80222 broad.mit.edu 37 1 150471388 150471388 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:150471388C>T uc001euq.3 + 11 1424 c.1417C>T c.(1417-1419)Caa>Taa p.Q473* TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Nonsense_Mutation_p.Q391*|TARS2_uc009wlt.3_Nonsense_Mutation_p.Q99*|TARS2_uc009wls.3_Nonsense_Mutation_p.Q343* NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 473 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) AGCAGAGATCCAAAGCTGTCT 0.557000 46 31 0 0 0.002836 0 0 KIAA0564 23078 broad.mit.edu 37 13 42179406 42179406 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:42179406C>T uc001uyj.3 - 39 4954 c.4884G>A c.(4882-4884)aaG>aaA p.K1628K NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1628 extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTTGGATCTCCTTTAGCCTGA 0.423000 62 16 0 0 0.003163 0 0 SLC20A1 6574 broad.mit.edu 37 2 113405310 113405310 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:113405310C>T uc002tib.3 + 3 1095 c.556C>T c.(556-558)Cat>Tat p.H186Y NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA. 186 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 ATTCATCCTCCATAAGGTAAC 0.433000 48 91 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 106967498 106967498 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:106967498C>T uc021ser.1 - 263 c.10002G>A Parts of antibodies, mostly variable regions. GAAGAACTTTCCTCTCAGAGG 0.488000 35 12 0 0 0.001368 0 0 C1orf63 57035 broad.mit.edu 37 1 25569092 25569092 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:25569092C>T uc001bjw.3 - 4 1113 c.861G>A c.(859-861)tgG>tgA p.W287* C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript NM_020317 NP_064713 Q9BUV0 CA063_HUMAN Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA. 287 breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGATAGGTATCCACAGTCCAT 0.378000 45 19 0 0 0.001523 0 0 PTPRS 5802 broad.mit.edu 37 19 5219985 5219985 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:5219985G>A uc002mbv.3 - 21 3964 c.3730C>T c.(3730-3732)Ctc>Ttc p.L1244F PTPRS_uc002mbu.1_Missense_Mutation_p.L813F|PTPRS_uc010xin.2_Missense_Mutation_p.L813F|PTPRS_uc002mbw.3_Missense_Mutation_p.L1222F|PTPRS_uc002mbx.3_Missense_Mutation_p.L817F|PTPRS_uc002mby.3_Missense_Mutation_p.L813F NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1244 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AGCACGAAGAGGACATAGCGG 0.612000 53 33 0 0 0.006230 0 0 GPR142 350383 broad.mit.edu 37 17 72368373 72368373 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:72368373G>A uc021ucp.1 + 3 1023 c.1014G>A c.(1012-1014)cgG>cgA p.R338R GPR142_uc010wqy.2_Silent_p.R341R NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 341 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 ACCGGCTACGGAGGAGGGGCC 0.637000 25 5 0 0 0.003080 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140235919 140235919 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140235919G>C uc003lhx.2 + 0 286 c.286G>C c.(286-288)Ggg>Cgg p.G96R 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_Missense_Mutation_p.G96R|PCDHAC2_uc011dad.2_Missense_Mutation_p.G96R NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 112 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGTGCGGGCGGAGCGT 0.562000 136 7 0 0 0.006214 0 0 GRID2 2895 broad.mit.edu 37 4 94436523 94436524 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:94436523_94436524GG>AA uc011cdt.2 + 12 2412_2413 c.2154_2155GG>AA c.(2152-2157)tcggag>tcAAag p.E719K GRID2_uc011cdu.2_Missense_Mutation_p.E624K NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 719 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S718L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GCAATGGATCGGAGAACAATGT 0.475000 24 24 0 0 0.004672 0 0 KLRC4 8302 broad.mit.edu 37 12 10560975 10560975 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:10560975C>T uc001qye.3 - 2 475 c.293G>A c.(292-294)gGa>gAa p.G98E KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR NM_013431 NP_038459 O43908 NKG2F_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA. 98 cellular defense response integral to membrane binding|receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 CTCCAGTACTCCAATACCTAG 0.259000 34 9 0 0 0.000978 0 0 KLF17 128209 broad.mit.edu 37 1 44595442 44595442 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:44595442C>T uc001clp.3 + 1 557 c.499C>T c.(499-501)Cca>Tca p.P167S KLF17_uc009vxf.1_Missense_Mutation_p.P130S NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 167 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P167L(1) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CACTGGAATCCCAATAATGTC 0.577000 18 9 0 0 0.004482 0 0 MADD 8567 broad.mit.edu 37 11 47315489 47315489 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:47315489C>T uc001ner.1 + 21 3662 c.3471C>T c.(3469-3471)tcC>tcT p.S1157S MADD_uc001neq.2_Silent_p.S1119S|MADD_uc001nev.1_Silent_p.S1076S|MADD_uc001nes.1_Silent_p.S1096S|MADD_uc001net.1_Silent_p.S1139S|MADD_uc009yln.1_Silent_p.S1076S|MADD_uc001neu.1_Silent_p.S1076S|MADD_uc001nez.2_Silent_p.S1076S|MADD_uc001new.2_Silent_p.S1119S|MADD_uc001nex.2_Silent_p.S1157S|MADD_uc009ylo.3_Silent_p.S75S NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 1157 Ser-rich. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AGAAAAAGTCCCAGATCAGCG 0.468000 1 13 0 0 0.003163 0 0 PCK1 5105 broad.mit.edu 37 20 56136498 56136498 + Missense_Mutation SNP C T T rs146652385 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:56136498C>T uc002xyn.4 + 1 194 c.31C>T c.(31-33)Ctc>Ttc p.L11F PCK1_uc010zzm.2_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 11 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CGGCCTGAACCTCTCGGCCAA 0.542000 54 34 0 0 0.002836 0 0 CDK14 5218 broad.mit.edu 37 7 90492554 90492554 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:90492554G>A uc003uky.2 + 5 831 c.609G>A c.(607-609)aaG>aaA p.K203K CDK14_uc003ukz.1_Silent_p.K185K|CDK14_uc010les.1_Silent_p.K157K|CDK14_uc011khl.1_Silent_p.K74K NM_012395 NP_036527 O94921 CDK14_HUMAN Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA. 203 Protein kinase. G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 TCCATACCAAGGAGACGCTGA 0.303000 47 37 0 0 0.002222 0 0 RPS18 6222 broad.mit.edu 37 6 33244018 33244018 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:33244018C>T uc003odp.1 + 4 402 c.357C>T c.(355-357)gcC>gcT p.A119A RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN Homo sapiens ribosomal protein S18 (RPS18), mRNA. 119 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 AGATTCGGGCCCATAGAGGGC 0.562000 22 31 0 0 0.002836 0 0 OR5H1 26341 broad.mit.edu 37 3 97852023 97852023 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:97852023G>A uc011bgt.2 + 0 482 c.482G>A c.(481-483)gGa>gAa p.G161E NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 ATCCATGAAGGATTTTTATTC 0.353000 73 8 0 0 0.002780 0 0 FCRL1 115350 broad.mit.edu 37 1 157768028 157768028 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:157768028A>T uc001frg.3 - 7 1150 c.1037T>A c.(1036-1038)cTt>cAt p.L346H FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.L346H|FCRL1_uc001fri.3_Missense_Mutation_p.L307H|FCRL1_uc001frj.3_Non-coding_Transcript NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 346 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGGGCTGGGAAGGCTCCTGCA 0.483000 22 12 0 0 0.001368 0 0 ACTR1B 10120 broad.mit.edu 37 2 98273645 98273645 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:98273645G>A uc002syb.2 - 9 1206 c.998C>T c.(997-999)cCg>cTg p.P333L NM_005735 NP_005726 P42025 ACTY_HUMAN Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA. 333 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 CCGTTCCTGCGGGGCTGAGAT 0.607000 12 7 0 0 0.006214 0 0 PAPOLG 64895 broad.mit.edu 37 2 61019308 61019308 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:61019308C>T uc002sai.3 + 16 1812 c.1563C>T c.(1561-1563)tcC>tcT p.S521S PAPOLG_uc002saj.3_Silent_p.S210S|PAPOLG_uc002sak.3_Silent_p.S56S|PAPOLG_uc010fch.3_Silent_p.S210S NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. 521 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) GACTTCAATCCAAAAGATTGT 0.423000 30 13 0 0 0.003163 0 0 OR5B12 390191 broad.mit.edu 37 11 58207156 58207156 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:58207156G>A uc010rkh.2 - 0 491 c.469C>T c.(469-471)Cat>Tat p.H157Y NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTCCCAGTATGAATGGATGCA 0.448000 25 37 0 0 0.008740 0 0 LRRC15 131578 broad.mit.edu 37 3 194080774 194080774 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:194080774G>A uc003ftt.3 - 2 1142 c.1017C>T c.(1015-1017)tcC>tcT p.S339S LRRC15_uc003ftu.3_Silent_p.S333S|LRRC15_uc021xiy.1_Silent_p.S333S NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 333 integral to membrane p.N338S(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGGCACCCGGGGAGATGAAGC 0.567000 14 9 0 0 0.008291 0 0 TOX2 84969 broad.mit.edu 37 20 42697299 42697299 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:42697299C>T uc010ggo.3 + 8 1534 c.1494C>T c.(1492-1494)ccC>ccT p.P498P TOX2_uc002xle.4_Silent_p.P456P|TOX2_uc010ggp.3_Silent_p.P456P|TOX2_uc002xlf.4_Silent_p.P480P|TOX2_uc010zwk.2_Silent_p.P376P NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCCTGCTCCCCAGGGACAAAT 0.627000 15 11 0 0 0.001368 0 0 LYST 1130 broad.mit.edu 37 1 235827771 235827771 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:235827771A>C uc001hxj.2 - 50 11364 c.11189T>G c.(11188-11190)aTt>aGt p.I3730S LYST_uc001hxi.2_Missense_Mutation_p.I954S NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 3730 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) TTACCTTACAATTCCATTTTC 0.378000 36 6 0 0 0.001984 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274229 123274229 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:123274229C>T uc003ieh.3 + 78 14065 c.14020C>T c.(14020-14022)Cgt>Tgt p.R4674C KIAA1109_uc003iem.3_Missense_Mutation_p.R1030C NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 4674 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCCAAATTTTCGTTCAAAATC 0.368000 65 17 0 0 0.004990 0 0 HOXA2 3199 broad.mit.edu 37 7 27140891 27140891 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:27140891C>T uc003syh.3 - 1 860 c.585G>A c.(583-585)agG>agA p.R195R HOXA2_uc022aaq.1_3'UTR NM_006735 NP_006726 O43364 HXA2_HUMAN Homo sapiens homeobox A2 (HOXA2), mRNA. 195 nucleus sequence-specific DNA binding transcription factor activity p.R195S(2) breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 TGTGCTTCATCCTCCGGTTCT 0.493000 37 11 0 0 0.000978 0 0 FCN1 2219 broad.mit.edu 37 9 137806247 137806247 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:137806247C>T uc004cfi.3 - 3 380 c.291G>A c.(289-291)ggG>ggA p.G97G NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 97 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CTCCACGCATCCCCTTCTCTC 0.632000 19 31 0 0 0.001786 0 0 S100P 6286 broad.mit.edu 37 4 6695775 6695775 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:6695775A>C uc003gjl.3 + 0 210 c.116A>C c.(115-117)aAg>aCg p.K39T NM_005980 NP_005971 P25815 S100P_HUMAN Homo sapiens S100 calcium binding protein P (S100P), mRNA. 39 EF-hand 1. endothelial cell migration cytoplasm|nucleus calcium ion binding|calcium-dependent protein binding|magnesium ion binding prostate(1) 1 Myeloproliferative disorder(84;0.0255) Colorectal(103;0.011) Cromoglicate(DB01003) CTGATGGAGAAGGAGCTACCA 0.632000 10 9 0 0 0.008291 0 0 ERC2 26059 broad.mit.edu 37 3 56026215 56026215 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:56026215C>T uc021wzo.1 - 9 2265 c.2125G>A c.(2125-2127)Gat>Aat p.D709N ERC2_uc003dhr.1_Missense_Mutation_p.D709N|ERC2_uc003dht.1_Missense_Mutation_p.D192N NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 709 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GCCTCTTTATCGAGCTGTTTT 0.448000 112 98 0 0 0.003610 0 0 NF1 4763 broad.mit.edu 37 17 29683977 29683977 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:29683977G>A uc002hgg.3 + 53 8122 c.7739_splice c.e53-1 p.E2580_splice NF1_uc002hgh.3_Splice_Site_p.E2559_splice|NF1_uc010cso.3_Splice_Site_p.E768_splice|NF1_uc010wbt.1_Splice_Site_p.E58_splice|NF1_uc010wbu.1_Splice_Site NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 2580 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTGCTGCAGAAACTCAGAG 0.368000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 79 55 0 0 0.003610 0 0 C5orf42 65250 broad.mit.edu 37 5 37165645 37165645 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:37165645G>A uc011cpa.1 - 35 7760 c.7529C>T c.(7528-7530)cCc>cTc p.P2510L C5orf42_uc011coy.1_Missense_Mutation_p.P1010L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1585L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2510 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) CTATACCTTGGGTTTCTTAAT 0.358000 28 9 0 0 0.006214 0 0 LCT 3938 broad.mit.edu 37 2 136562526 136562526 + Silent SNP G A A rs79686438 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:136562526G>A uc002tuu.1 - 9 4286 c.4275C>T c.(4273-4275)gcC>gcT p.A1425A NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1425 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AACTGTCACAGGCCACGTCTC 0.537000 25 8 0 0 0.003080 0 0 INPP5D 3635 broad.mit.edu 37 2 233990557 233990557 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:233990557G>C uc010zmo.2 + 3 605 c.452G>C c.(451-453)cGa>cCa p.R151P INPP5D_uc010zmp.2_Missense_Mutation_p.R150P NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 151 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GAGAATCCCCGAGCGACCGAG 0.602000 7 8 0 0 0.003080 0 0 FLG 2312 broad.mit.edu 37 1 152285985 152285985 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152285985C>T uc001ezu.1 - 2 1413 c.1377G>A c.(1375-1377)ggG>ggA p.G459G AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 459 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCGTTCCCCTGACCGGC 0.587000 Ichthyosis 80 69 0 0 0.003610 0 0 PHKG2 5261 broad.mit.edu 37 16 30764754 30764754 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:30764754C>T uc002dzk.2 + 5 642 c.432C>T c.(430-432)ctC>ctT p.L144L PHKG2_uc021tgo.1_Silent_p.L144L NM_000294 NP_000285 P15735 PHKG2_HUMAN Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. 144 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) TGAGCTTTCTCCATGCCAACA 0.562000 16 17 0 0 0.004990 0 0 DVL3 1857 broad.mit.edu 37 3 183887885 183887886 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:183887885_183887886CC>TT uc003fms.3 + 13 1730_1731 c.1590_1591CC>TT c.(1588-1593)gcccct>gcTTct p.P531S DVL3_uc011bqw.2_Missense_Mutation_p.P514S|DVL3_uc003fmt.3_Missense_Mutation_p.P202S|DVL3_uc003fmu.3_Missense_Mutation_p.P363S NM_004423 NP_004414 Q92997 DVL3_HUMAN Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA. 531 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CGGGGGCCGCCCCTTGGCCCAT 0.683000 21 6 0 0 0.004672 0 0 ADCY10 55811 broad.mit.edu 37 1 167802365 167802365 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:167802365C>T uc001ger.3 - 24 3751 c.3453G>A c.(3451-3453)aaG>aaA p.K1151K ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.K998K|ADCY10_uc009wvk.3_Silent_p.K1059K NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1151 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCAGCATTTTCTTGGCAAGCA 0.428000 176 53 0 0 0.003610 0 0 MORC1 27136 broad.mit.edu 37 3 108724021 108724021 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:108724021C>T uc003dxl.3 - 18 1996 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K MORC1_uc011bhn.2_Missense_Mutation_p.E616K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 637 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATTTTTGTTTCTGAAATATAC 0.388000 42 39 0 0 0.005524 0 0 UBE2O 63893 broad.mit.edu 37 17 74387359 74387359 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:74387359G>A uc002jrm.4 - 17 3609 c.3544C>T c.(3544-3546)Caa>Taa p.Q1182* UBE2O_uc002jrl.4_Nonsense_Mutation_p.Q786* NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 1182 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GGTTCTTGTTGGCCGGAGTCT 0.687000 64 9 0 0 0.006214 0 0 CYLC1 1538 broad.mit.edu 37 X 83129107 83129107 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:83129107G>A uc004eei.1 + 3 1412 c.1391G>A c.(1390-1392)gGg>gAg p.G464E CYLC1_uc004eeh.1_Missense_Mutation_p.G463E NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 464 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GAAAAGAAGGGGAAGAAAGAT 0.348000 3 3 0 0 0.004672 0 0 ADCY8 114 broad.mit.edu 37 8 131848633 131848633 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:131848633G>A uc003ytd.4 - 11 2821 c.2565C>T c.(2563-2565)tcC>tcT p.S855S ADCY8_uc010mds.3_Silent_p.S724S NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 855 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCTTCAGGACGGAGTTCAGCC 0.537000 HNSCC(32;0.087) 44 15 0 0 0.004007 0 0 DNAH3 55567 broad.mit.edu 37 16 20975320 20975320 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:20975320G>A uc010vbe.2 - 52 9886 c.9886C>T c.(9886-9888)Cca>Tca p.P3296S DNAH3_uc010vbd.2_Missense_Mutation_p.P731S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3296 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACAGCCACTGGCTTGTAGCCC 0.483000 45 40 0 0 0.007835 0 0 NR2E1 7101 broad.mit.edu 37 6 108502808 108502808 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:108502808C>T uc003psg.3 + 7 1703 c.948C>T c.(946-948)gcC>gcT p.A316A NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA. 316 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) CCATTGCAGCCCTTCAAGATG 0.448000 43 33 0 0 0.002522 0 0 MEI1 150365 broad.mit.edu 37 22 42128505 42128505 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:42128505C>T uc003baz.1 + 10 1254 c.1229C>T c.(1228-1230)tCa>tTa p.S410L bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.S410L|MEI1_uc011apd.1_Non-coding_Transcript NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN Homo sapiens meiosis inhibitor 1 (MEI1), mRNA. 410 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TTCACAAGCTCAGCCATGTGC 0.552000 23 17 0 0 0.008871 0 0 FOXR2 139628 broad.mit.edu 37 X 55650279 55650279 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:55650279C>T uc004duo.3 + 0 447 c.135C>T c.(133-135)atC>atT p.I45I NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 45 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CTGAGCAAATCCTTGCCAAAT 0.517000 2 40 0 0 0.007835 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57068407 57068407 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:57068407C>T uc001njr.3 - 8 5392 c.5080G>A c.(5080-5082)Gga>Aga p.G1694R TNKS1BP1_uc001njq.3_Missense_Mutation_p.G267R|TNKS1BP1_uc001njs.3_Missense_Mutation_p.G1694R NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 1694 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TTTCCCAGTCCTGGGACCTTG 0.597000 9 35 0 0 0.004878 0 0 LHX8 431707 broad.mit.edu 37 1 75608860 75608860 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:75608860C>T uc001dgo.3 + 5 1111 c.447C>T c.(445-447)gtC>gtT p.V149V LHX8_uc021oou.1_Silent_p.V149V|LHX8_uc001dgq.3_Silent_p.V88V NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA. 149 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CTGACTGGGTCCGGAGAGCCA 0.468000 39 16 0 0 0.006122 0 0 STK10 6793 broad.mit.edu 37 5 171510058 171510058 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:171510058G>A uc003mbo.1 - 10 2016 c.1716C>T c.(1714-1716)ctC>ctT p.L572L NM_005990 NP_005981 O94804 STK10_HUMAN Homo sapiens serine/threonine kinase 10 (STK10), mRNA. 572 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTCTTTCTGGAGCAGCCGAA 0.458000 38 15 0 0 0.008871 0 0 SPEG 10290 broad.mit.edu 37 2 220354500 220354500 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:220354500C>T uc010fwg.3 + 35 8760 c.8760C>T c.(8758-8760)ccC>ccT p.P2920P NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2920 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCTGAGCCCCCTCCTGAGC 0.627000 17 10 0 0 0.006214 0 0 ASH1L 55870 broad.mit.edu 37 1 155319343 155319343 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:155319343G>A uc009wqq.3 - 17 7906 c.7426C>T c.(7426-7428)Cca>Tca p.P2476S ASH1L_uc001fkt.3_Missense_Mutation_p.P2471S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 2476 Bromo. DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTTTCTTTGGGGGAAGGTTC 0.448000 14 11 0 0 0.001368 0 0 SPHKAP 80309 broad.mit.edu 37 2 228996724 228996724 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:228996724G>A uc002vpq.2 - 1 157 c.110C>T c.(109-111)cCg>cTg p.P37L SPHKAP_uc002vpp.2_Missense_Mutation_p.P37L|SPHKAP_uc010zlx.1_Missense_Mutation_p.P37L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 37 cytoplasm protein binding p.P37Q(3) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAGTTCCCCGGGCCGCTTCC 0.468000 66 16 0 0 0.004007 0 0 APOB 338 broad.mit.edu 37 2 21239422 21239422 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:21239422C>T uc002red.3 - 20 3349 c.3221G>A c.(3220-3222)gGa>gAa p.G1074E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1074 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) GAGGATTGTTCCGAGGTCAAC 0.448000 222 117 0 0 0.003610 0 0 TRO 7216 broad.mit.edu 37 X 54956549 54956549 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:54956549C>G uc004dtq.3 + 11 3499 c.3392C>G c.(3391-3393)gCt>gGt p.A1131G TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.A662G|TRO_uc004dtw.3_Missense_Mutation_p.A734G|TRO_uc004dtx.3_Missense_Mutation_p.A514G NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 1131 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GGCTTTGGTGCTGCTCCCAGC 0.577000 1 4 0 0 0.004007 0 0 SERGEF 26297 broad.mit.edu 37 11 18026049 18026049 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:18026049G>A uc001mnm.3 - 3 466 c.386C>T c.(385-387)tCc>tTc p.S129F SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_Missense_Mutation_p.S129F|SERGEF_uc010rcz.1_Missense_Mutation_p.S15F NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA. 129 negative regulation of protein secretion|signal transduction cytoplasm|nucleus Ran guanyl-nucleotide exchange factor activity|protein binding autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CTGGCCAAAGGAGTTGGATCC 0.418000 28 7 0 0 0.004482 0 0 TSGA13 114960 broad.mit.edu 37 7 130357685 130357685 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:130357685T>C uc003vqi.3 - 5 876 c.419A>G c.(418-420)aAc>aGc p.N140S TSGA13_uc003vqj.3_Missense_Mutation_p.N140S NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 140 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) CAGCCAGAGGTTCTCAGTGGG 0.468000 248 230 0 0 0.003610 0 0 C1orf105 92346 broad.mit.edu 37 1 172417629 172417629 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:172417629G>A uc001gik.3 + 2 354 c.156G>A c.(154-156)atG>atA p.M52I NM_139240 NP_640333 O95561 CA105_HUMAN Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA. 52 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 AGAAGAATATGAATTTGCCAA 0.333000 68 63 0 0 0.003610 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19716332 19716332 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:19716332C>T uc002ykw.3 - 10 1248 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 406 MAM. 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 AAGCCCCACTCGTTCTTGTCT 0.383000 73 71 0 0 0.003610 0 0 SLC2A4 6517 broad.mit.edu 37 17 7188167 7188167 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7188167C>T uc002gfp.3 + 7 1129 c.929C>T c.(928-930)tCg>tTg p.S310L SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S300L NM_001042 NP_001033 P14672 GTR4_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA. 310 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding p.S310S(1) breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 TTCTATTATTCGACCAGCATC 0.552000 123 28 0 0 0.008361 0 0 PPFIA3 8541 broad.mit.edu 37 19 49632189 49632189 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:49632189C>T uc002pmr.3 + 3 759 c.427C>T c.(427-429)Ccg>Tcg p.P143S PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.P67S|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.P11S NM_003660 NP_003651 O75145 LIPA3_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA. 143 cell surface|cytoplasm protein binding p.P143P(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGCCCAGTCCCCGGGTGGGGT 0.587000 26 7 0 0 0.003080 0 0 SLC38A10 124565 broad.mit.edu 37 17 79244725 79244725 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:79244725G>A uc002jzz.1 - 9 1499 c.1124C>T c.(1123-1125)tCc>tTc p.S375F SLC38A10_uc002jzy.1_Missense_Mutation_p.S293F|SLC38A10_uc002kab.3_Missense_Mutation_p.S375F NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 375 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACCTGGGAGGAAAGTGCGTT 0.617000 29 10 0 0 0.001855 0 0 ANAPC4 29945 broad.mit.edu 37 4 25379083 25379083 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:25379083C>T uc003gro.3 + 1 163 c.34C>T c.(34-36)Cgg>Tgg p.R12W NM_013367 NP_037499 Q9UJX5 APC4_HUMAN Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA. 12 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) CCCATCCTTCCGGGTGGTGGG 0.627000 25 6 0 0 0.001984 0 0 SYT2 127833 broad.mit.edu 37 1 202571506 202571506 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:202571506C>T uc001gye.3 - 5 826 c.633_splice c.e5+1 p.K211_splice SYT2_uc010pqb.2_Splice_Site_p.K211_splice|SYT2_uc009xaf.3_Splice_Site_p.K41_splice NM_001136504 NP_796376 Q8N9I0 SYT2_HUMAN Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA. 211 C2 1.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CCCTCAGCACCTTGAAGGTGA 0.507000 57 51 0 0 0.003610 0 0 FSTL5 56884 broad.mit.edu 37 4 162402298 162402298 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:162402298C>T uc003iqh.3 - 12 1918 c.1482G>A c.(1480-1482)gaG>gaA p.E494E FSTL5_uc003iqi.3_Silent_p.E493E|FSTL5_uc010iqv.3_Silent_p.E484E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 494 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTTCATCTCCCTCAGCTTTGG 0.373000 118 43 0 0 0.003610 0 0 ZNF823 55552 broad.mit.edu 37 19 11832979 11832979 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:11832979G>A uc002msm.2 - 3 1496 c.1370C>T c.(1369-1371)tCc>tTc p.S457F ZNF823_uc010xmd.1_Missense_Mutation_p.S275F|ZNF823_uc010dyi.1_Missense_Mutation_p.S413F NM_001080493 NP_001073962 P16415 ZN823_HUMAN Homo sapiens zinc finger protein 823 (ZNF823), mRNA. 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 ATTTTGAAAGGAAGAGAGATC 0.423000 HNSCC(68;0.2) 54 44 0 0 0.008740 0 0 ZNF226 7769 broad.mit.edu 37 19 44679881 44679881 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:44679881C>T uc002oys.3 + 5 646 c.466C>T c.(466-468)Ccc>Tcc p.P156S ZNF226_uc002oyp.3_Missense_Mutation_p.P156S|ZNF226_uc002oyq.3_Missense_Mutation_p.P39S|ZNF226_uc002oyr.3_Missense_Mutation_p.P39S|ZNF226_uc002oyt.3_Missense_Mutation_p.P156S NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AGCAGATGGTCCCAATAATAC 0.403000 7 17 0 0 0.004990 0 0 ARNTL 406 broad.mit.edu 37 11 13388252 13388252 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:13388252C>T uc001mkr.3 + 10 1001 c.593C>T c.(592-594)cCt>cTt p.P198L ARNTL_uc001mko.3_Missense_Mutation_p.P155L|ARNTL_uc001mkp.3_Missense_Mutation_p.P198L|ARNTL_uc001mkq.3_Missense_Mutation_p.P198L|ARNTL_uc001mks.3_Missense_Mutation_p.P155L|ARNTL_uc001mkt.3_Missense_Mutation_p.P198L|ARNTL_uc009ygm.1_Missense_Mutation_p.P155L|ARNTL_uc001mkv.1_Missense_Mutation_p.P155L|ARNTL_uc001mkw.3_Missense_Mutation_p.P155L|ARNTL_uc001mkx.3_Missense_Mutation_p.P196L NM_001178 NP_001169 O00327 BMAL1_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA. 198 PAS 1. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) TACCTGCATCCTAAAGATATT 0.458000 93 55 0 0 0.003610 0 0 ITGA2 3673 broad.mit.edu 37 5 52379209 52379209 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:52379209T>C uc003joy.3 + 26 3327 c.3184T>C c.(3184-3186)Ttg>Ctg p.L1062L ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.L986L|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 1062 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TACCTGCTGGTTGAAAGACGT 0.348000 9 11 0 0 0.001855 0 0 NEK1 4750 broad.mit.edu 37 4 170398377 170398377 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:170398377C>T uc003isd.2 - 25 2910 c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K NEK1_uc003ise.2_Missense_Mutation_p.E734K|NEK1_uc003isb.2_Missense_Mutation_p.E750K|NEK1_uc003isc.2_Missense_Mutation_p.E706K|NEK1_uc003isf.2_Missense_Mutation_p.E681K NM_001199397 NP_001186326 Q96PY6 NEK1_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA. 750 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) ACTGATTTTTCTTTTTCATGC 0.368000 10 4 0 0 0.000602 0 0 TIE1 7075 broad.mit.edu 37 1 43785140 43785140 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:43785140C>A uc001ciu.3 + 18 3224 c.3047C>A c.(3046-3048)cCt>cAt p.P1016H TIE1_uc010oke.2_Missense_Mutation_p.P971H|TIE1_uc009vwq.3_Missense_Mutation_p.P972H|TIE1_uc010okg.2_Missense_Mutation_p.P661H|TIE1_uc021omo.1_5'Flank NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 1016 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGCGTCTCCCTGTGCGCTGG 0.597000 85 6 0.00198382 0.00270897 0.001984 1 0 STAB1 23166 broad.mit.edu 37 3 52551110 52551111 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:52551110_52551111GG>AA uc003dej.3 + 41 4548_4549 c.4474_4475GG>AA c.(4474-4476)ggg>AAg p.G1492K STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1492 EGF-like 11. 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) CATGGGCGACGGGGAGCTGTGC 0.624000 22 8 0 0 0.004672 0 0 ADNP2 22850 broad.mit.edu 37 18 77893615 77893615 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:77893615C>T uc002lnw.3 + 3 774 c.319C>T c.(319-321)Cct>Tct p.P107S NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 107 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCTGGTGATCCCTTGCCCAAA 0.438000 50 18 0 0 0.002299 0 0 CCDC63 160762 broad.mit.edu 37 12 111318964 111318964 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:111318964G>A uc001trv.1 + 6 912 c.717G>A c.(715-717)aaG>aaA p.K239K CCDC63_uc009zvt.1_Missense_Mutation_p.E94K|CCDC63_uc010sye.1_Silent_p.K199K|CCDC63_uc001trw.1_Silent_p.K154K NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 239 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 ACCGCCAGAAGAAGGACACCT 0.562000 16 6 0 0 0.001168 0 0 TXLNB 167838 broad.mit.edu 37 6 139609965 139609965 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:139609965T>C uc021zfy.1 - 1 237 c.72A>G c.(70-72)ttA>ttG p.L24L NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN Homo sapiens taxilin beta (TXLNB), mRNA. 24 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TGTGACTGGGTAATGATGAAC 0.512000 39 35 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179554063 179554063 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179554063C>T uc021vsy.1 - 120 28458 c.28233G>A c.(28231-28233)agG>agA p.R9411R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R6072R|TTN_uc010fre.1_Silent_p.R522R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10338 Ig-like 77. 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) GAACAGGTTTCCTTTCTTCAG 0.363000 17 23 0 0 0.003954 0 0 SCGN 10590 broad.mit.edu 37 6 25689431 25689431 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:25689431C>T uc003nfb.3 + 7 762 c.559C>T c.(559-561)Caa>Taa p.Q187* SCGN_uc010jpz.3_Nonsense_Mutation_p.Q78* NM_006998 NP_008929 O76038 SEGN_HUMAN Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA. 187 extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CTTCCTTCTCCAATTTAAAAT 0.368000 82 12 0 0 0.002450 0 0 KLHL38 340359 broad.mit.edu 37 8 124659207 124659207 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:124659207C>T uc003yqs.1 - 1 1422 c.1398G>A c.(1396-1398)atG>atA p.M466I NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA. 466 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CGTTCTTGATCATTCTTGTCT 0.463000 78 73 0 0 0.003610 0 0 ASNA1 439 broad.mit.edu 37 19 12858873 12858873 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:12858873C>T uc002muv.3 + 6 1016 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_004317 NP_004308 O43681 ASNA_HUMAN Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA. 334 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction ATP binding|arsenite-transporting ATPase activity|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) TCAACACCTTCTCGGCCCTCC 0.627000 21 23 0 0 0.003330 0 0 CCNT1 904 broad.mit.edu 37 12 49087904 49087904 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:49087904G>A uc001rsd.4 - 8 1416 c.1093C>T c.(1093-1095)Cca>Tca p.P365S CCNT1_uc009zkz.2_Missense_Mutation_p.P80S|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 365 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CCATCCTGTGGTAAGGAATGA 0.448000 62 25 0 0 0.004656 0 0 E2F8 79733 broad.mit.edu 37 11 19259529 19259529 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:19259529G>A uc001mpm.3 - 2 688 c.166C>T c.(166-168)Ccg>Tcg p.P56S E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P56S|E2F8_uc001mpo.1_Missense_Mutation_p.P56S NM_024680 NP_078956 A0AVK6 E2F8_HUMAN Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. 56 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGTGTCCACGGCTCTCCCTGA 0.517000 129 22 0 0 0.002299 0 0 GRID1 2894 broad.mit.edu 37 10 87379753 87379753 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:87379753G>A uc001kdl.1 - 13 2332 c.2231C>T c.(2230-2232)gCc>gTc p.A744V GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Missense_Mutation_p.A315V NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 744 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TTCCACCACGGCCACATCCCA 0.552000 Multiple Myeloma(13;0.14) 15 17 0 0 0.006122 0 0 ICOSLG 23308 broad.mit.edu 37 21 45657027 45657027 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:45657027G>A uc010gpp.1 - 2 263 c.129C>T c.(127-129)agC>agT p.S43S ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.S43S|ICOSLG_uc011afc.2_Intron NM_015259 NP_056074 O75144 ICOSL_HUMAN Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA. 43 Ig-like V-type. B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) AATCAAAACGGCTTCCTTCAG 0.498000 58 14 0 0 0.001855 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222527 140222527 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140222527G>A uc003lhs.2 + 0 1621 c.1621G>A c.(1621-1623)Ggc>Agc p.G541S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G541S NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 555 Cadherin 5. 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) GCGCGACGCGGGCGTGCCGCC 0.677000 54 18 0 0 0.006122 0 0 CMYA5 202333 broad.mit.edu 37 5 79029225 79029225 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:79029225C>T uc003kgc.3 + 1 4709 c.4637C>T c.(4636-4638)tCa>tTa p.S1546L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1546 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) GAACTTCCTTCATCACAAAAT 0.418000 44 30 0 0 0.007291 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433650 67433650 + Missense_Mutation SNP C T T rs139967003 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:67433650C>T uc001omr.3 - 5 701 c.262G>A c.(262-264)Gga>Aga p.G88R ALDH3B2_uc001oms.3_Missense_Mutation_p.G88R|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G88R NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 88 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TCCTGGGGTCCGCCCAGCACC 0.647000 46 17 0 0 0.001882 0 0 SCARA5 286133 broad.mit.edu 37 8 27737269 27737269 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:27737269G>A uc003xgj.3 - 7 1779 c.1168C>T c.(1168-1170)Ccg>Tcg p.P390S SCARA5_uc010luz.3_Missense_Mutation_p.P165S NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA. 390 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) ATCATCATCGGGGCCTCCACG 0.662000 14 15 0 0 0.003163 0 0 SYCP1 6847 broad.mit.edu 37 1 115537595 115537595 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:115537595G>A uc001efr.3 + 31 3095 c.2886G>A c.(2884-2886)atG>atA p.M962I SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.M962I|SYCP1_uc009wgw.3_Missense_Mutation_p.M937I NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 962 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding p.M962I(2) RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGCTAAAATGGATAGAAAAA 0.363000 15 30 0 0 0.001786 0 0 OR4N2 390429 broad.mit.edu 37 14 20295728 20295728 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20295728G>A uc010tkv.2 + 0 121 c.121G>A c.(121-123)Gga>Aga p.G41R NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCCTCCCTGGAAATTTTCT 0.443000 229 52 0 0 0.003610 0 0 MILR1 284021 broad.mit.edu 37 17 62462587 62462587 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:62462587C>T uc010wpz.2 + 1 119 c.101C>T c.(100-102)cCa>cTa p.P34L MILR1_uc021ubp.1_Missense_Mutation_p.P34L Q7Z6M3 MILR1_HUMAN Homo sapiens mast cell immunoglobulin-like receptor 1 (MILR1), mRNA. 0 integral to membrane|plasma membrane AAGTGGGATCCAGGCCGTGTG 0.463000 12 15 0 0 0.003163 0 0 MYH2 4620 broad.mit.edu 37 17 10432487 10432487 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:10432487C>T uc010coi.3 - 25 3474 c.3346G>A c.(3346-3348)Gaa>Aaa p.E1116K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1116K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1116 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 ACTTGCAATTCTTTAATTTTC 0.393000 67 11 0 0 0.002450 0 0 TMEM79 84283 broad.mit.edu 37 1 156261300 156261300 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:156261300G>A uc010phi.2 + 3 1292 c.1096G>A c.(1096-1098)Gag>Aag p.E366K TMEM79_uc001fod.3_Missense_Mutation_p.E207K|TMEM79_uc009wrw.3_Missense_Mutation_p.E366K|C1orf85_uc001fof.4_Intron NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA. 366 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) GGTGGAGCCGGAGCGCATGCT 0.677000 55 52 0 0 0.003610 0 0 LAMA1 284217 broad.mit.edu 37 18 7008537 7008537 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:7008537G>A uc002knm.3 - 27 4166 c.4072C>T c.(4072-4074)Ctt>Ttt p.L1358F LAMA1_uc010wzj.2_Missense_Mutation_p.L834F NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1358 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCTCTAAAAGAGATGCAACC 0.453000 9 22 0 0 0.001523 0 0 HMCN1 83872 broad.mit.edu 37 1 186083197 186083197 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:186083197C>T uc001grq.1 + 72 11447 c.11218C>T c.(11218-11220)Cca>Tca p.P3740S MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3740 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGAAGGTGTGCCAACTCCAAG 0.413000 94 22 0 0 0.002780 0 0 XAGE3 170626 broad.mit.edu 37 X 52896099 52896099 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:52896099C>T uc004dre.3 - 1 126 c.66G>A c.(64-66)ctG>ctA p.L22L XAGE3_uc004drf.3_Silent_p.L22L NM_130776 NP_573440 Q8WTP9 GAGD4_HUMAN Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA. 22 kidney(1)|large_intestine(1)|lung(2) 4 TAGGCCCAATCAGCTCAGGAG 0.393000 38 41 0 0 0.003610 0 0 SLX4 84464 broad.mit.edu 37 16 3633161 3633161 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:3633161G>A uc002cvp.2 - 13 5717 c.5090C>T c.(5089-5091)cCa>cTa p.P1697L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1697 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TTGAGAGGCTGGGATCTGGGC 0.592000 Direct reversal of damage 61 15 0 0 0.003163 0 0 GPR112 139378 broad.mit.edu 37 X 135432151 135432151 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:135432151G>A uc004ezu.1 + 5 6577 c.6286G>A c.(6286-6288)Gat>Aat p.D2096N GPR112_uc010nsb.1_Missense_Mutation_p.D1891N|GPR112_uc010nsc.1_Missense_Mutation_p.D1863N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2096 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) AAATGTCACAGATGACATTGT 0.473000 16 27 0 0 0.008361 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296630 28296630 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:28296630G>A uc002ymg.3 - 7 3264 c.2535C>T c.(2533-2535)gtC>gtT p.V845V NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 845 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 AGCTATAACGGACATCTAATG 0.468000 61 48 0 0 0.003610 0 0 POTEC 388468 broad.mit.edu 37 18 14543007 14543007 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:14543007C>T uc010dln.3 - 0 593 c.139G>A c.(139-141)Gga>Aga p.G47R POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 47 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCGTGGTCTCCAGAAGTGCCC 0.577000 85 23 0 0 0.002780 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879493 3879493 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:3879493C>T uc002kmf.3 - 3 1103 c.576G>A c.(574-576)aaG>aaA p.K192K DLGAP1_uc010wyz.2_Silent_p.K192K|DLGAP1_uc002kmk.2_Silent_p.K192K|LOC201477_uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA. 192 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TGGGCCGGGCCTTGGGCTCCG 0.697000 17 42 0 0 0.003214 0 0 PTPN11 5781 broad.mit.edu 37 12 112926270 112926270 + Missense_Mutation SNP C T T rs121918457 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:112926270C>T uc001ttx.3 + 11 1783 c.1403C>T c.(1402-1404)aCg>aTg p.T468M NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 472 Substrate binding (By similarity).|Tyrosine-protein phosphatase. G -> A (in LEOPARD1). T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.T468M(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CGGACAGGGACGTTCATTGTG 0.443000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 25 33 0 0 0.006999 0 0 IKZF2 22807 broad.mit.edu 37 2 213872409 213872409 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:213872409G>A uc002vem.3 - 7 1425 c.1256C>T c.(1255-1257)tCc>tTc p.S419F IKZF2_uc010fuu.3_Missense_Mutation_p.S274F|IKZF2_uc002vej.3_Missense_Mutation_p.S366F|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.S345F|IKZF2_uc002vel.3_Missense_Mutation_p.S340F|IKZF2_uc010fuw.3_Missense_Mutation_p.S193F|IKZF2_uc010fux.3_Missense_Mutation_p.S193F|IKZF2_uc010fuy.3_Missense_Mutation_p.S347F|IKZF2_uc002ven.3_Missense_Mutation_p.S393F|IKZF2_uc002vei.3_Missense_Mutation_p.S197F NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TCCTTGGTAGGACTGGTGGTC 0.517000 95 45 0 0 0.003610 0 0 MATN4 8785 broad.mit.edu 37 20 43926853 43926853 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:43926853G>A uc002xnn.2 - 6 1570 c.1383C>T c.(1381-1383)tcC>tcT p.S461S MATN4_uc002xnp.2_Silent_p.S379S|MATN4_uc002xno.2_Silent_p.S420S|MATN4_uc010zwr.1_Silent_p.S409S|MATN4_uc002xnr.1_Silent_p.S461S NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 502 VWFA 2. extracellular region protein binding p.R460C(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TGTCATCCTGGGAGCGGCCAT 0.667000 36 27 0 0 0.002445 0 0 DUSP19 142679 broad.mit.edu 37 2 183960158 183960158 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:183960158G>A uc002upd.3 + 4 802 c.427_splice c.e4-1 p.D143_splice DUSP19_uc010frp.3_Splice_Site_p.D92_splice|DUSP19_uc010zfr.2_Splice_Site|DUSP19_uc002upe.3_Splice_Site_p.K103_splice NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA. 143 Tyrosine-protein phosphatase. JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1) 17 TTTTTTTGTAGGATGGAGTGG 0.318000 27 44 0 0 0.002852 0 0 COL9A1 1297 broad.mit.edu 37 6 70964882 70964882 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:70964882G>A uc003pfg.4 - 22 1741 c.1582C>T c.(1582-1584)Cct>Tct p.P528S COL9A1_uc003pfe.4_Missense_Mutation_p.P101S|COL9A1_uc003pff.4_Missense_Mutation_p.P285S NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 528 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 GGGAGACCAGGAATTCCTCTA 0.433000 112 29 0 0 0.002096 0 0 WNK3 65267 broad.mit.edu 37 X 54319341 54319341 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:54319341G>A uc004dtc.2 - 9 2456 c.2017C>T c.(2017-2019)Cag>Tag p.Q673* WNK3_uc004dtd.2_Nonsense_Mutation_p.Q673* NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 673 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGGACCTTCTGAACAGTTAAT 0.408000 15 5 0 0 0.001168 0 0 MADCAM1 8174 broad.mit.edu 37 19 504926 504926 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:504926G>A uc002los.3 + 4 1120 c.1110G>A c.(1108-1110)ggG>ggA p.G370G MADCAM1_uc002lot.3_Silent_p.G283G|MADCAM1_uc010drq.3_Silent_p.G188G|TPGS1_uc002lou.3_5'Flank|Mir_324_uc021ulw.1_5'Flank NM_130760 NP_570116 Q13477 MADCA_HUMAN Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA. 370 cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane p.G370W(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGGCTGGGTTAAGGGGGA 0.622000 10 8 0 0 0.003080 0 0 RALGDS 5900 broad.mit.edu 37 9 135984181 135984181 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:135984181G>A uc004cco.3 - 4 677 c.657C>T c.(655-657)ccC>ccT p.P219P RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.P207P|RALGDS_uc004ccr.3_Silent_p.P218P|RALGDS_uc011mcv.2_Silent_p.P190P|RALGDS_uc004ccs.3_Silent_p.P164P|RALGDS_uc011mcw.2_Silent_p.P290P|RALGDS_uc004ccv.1_5'UTR|RALGDS_uc004ccu.1_5'UTR NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 219 N-terminal Ras-GEF. Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GCTTGAGGCAGGGAAAGTCCG 0.632000 T CIITA """PMBL, Hodgkin Lymphona, """ 19 9 0 0 0.008291 0 0 PCK1 5105 broad.mit.edu 37 20 56138162 56138162 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:56138162C>T uc002xyn.4 + 4 852 c.689C>T c.(688-690)tCc>tTc p.S230F PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 230 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GAGATCATCTCCTTTGGCAGT 0.622000 24 14 0 0 0.002096 0 0 DLG2 1740 broad.mit.edu 37 11 83170881 83170881 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:83170881G>A uc001paj.2 - 22 2896 c.2593C>T c.(2593-2595)Ccc>Tcc p.P865S DLG2_uc001pai.2_Missense_Mutation_p.P744S|DLG2_uc010rsy.1_Missense_Mutation_p.P814S|DLG2_uc021qof.1_Missense_Mutation_p.P904S|DLG2_uc010rsz.1_Missense_Mutation_p.P861S|DLG2_uc010rta.1_Missense_Mutation_p.P847S|DLG2_uc001pak.2_Missense_Mutation_p.P970S|DLG2_uc010rsx.1_Missense_Mutation_p.P342S|DLG2_uc010rsw.1_Missense_Mutation_p.P329S NM_001364 NP_001355 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA. 865 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.P865P(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCCTTTGAGGGAATCCAGATG 0.358000 88 29 0 0 0.002096 0 0 MIR206 406989 broad.mit.edu 37 6 52009185 52009185 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:52009185G>A uc003paj.1 + 0 c.39G>A Homo sapiens microRNA 206 (MIR206), microRNA. ATCCCCATATGGATTACTTTG 0.532000 40 17 0 0 0.008871 0 0 RP1 6101 broad.mit.edu 37 8 55534729 55534729 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:55534729G>A uc003xsd.1 + 2 816 c.668G>A c.(667-669)gGa>gAa p.G223E RP1_uc011ldy.1_Missense_Mutation_p.G223E NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 223 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.G223V(2)|p.G223G(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTGGCGGCAGGAAGGGAGCCA 0.478000 44 8 0 0 0.003080 0 0 IL21R 50615 broad.mit.edu 37 16 27460580 27460580 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:27460580G>A uc002dor.2 + 9 2207 c.1659G>A c.(1657-1659)tcG>tcA p.S553S IL21R_uc002doq.2_Silent_p.S531S|IL21R_uc002dos.2_Silent_p.S531S|LOC283888_uc002dot.3_Non-coding_Transcript NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 531 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CGCCACTTTCGAGCCCTGGAC 0.652000 T BCL6 NHL 19 9 0 0 0.000978 0 0 LHX9 56956 broad.mit.edu 37 1 197898140 197898140 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:197898140C>T uc001guk.1 + 4 1382 c.945C>T c.(943-945)ttC>ttT p.F315F LHX9_uc001gui.1_Silent_p.F306F|LHX9_uc021pgw.1_Intron NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA. 315 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 AGGTTTGGTTCCAAAACGCAC 0.438000 27 10 0 0 0.001368 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879495 144879496 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:144879495_144879496GG>AA uc021ouh.1 - 26 4256_4257 c.3954_3955CC>TT c.(3952-3957)cgccgg>cgTTgg p.R1319W NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R1319W|PDE4DIP_uc001elx.4_Missense_Mutation_p.R1275W|PDE4DIP_uc001elv.4_Missense_Mutation_p.R326W NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1319 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTGAGCCCCGGCGTCCCTGCT 0.500000 T PDGFRB MPD 102 532 0 0 0.004672 0 0 DNAH2 146754 broad.mit.edu 37 17 7727471 7727471 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7727471C>T uc002giu.1 + 74 11525 c.11511C>T c.(11509-11511)ctC>ctT p.L3837L DNAH2_uc010cnm.1_Silent_p.L775L NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3837 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GATCCCCACTCGTGTTCATCC 0.617000 31 24 0 0 0.005443 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433506 72433506 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:72433506T>C uc004ebi.3 - 0 1205 c.823A>G c.(823-825)Aag>Gag p.K275E NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 275 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) TCTGAAAGCTTAACTTTAATA 0.358000 0 33 0 0 0.002836 0 0 C3 718 broad.mit.edu 37 19 6696664 6696664 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:6696664C>T uc002mfm.3 - 21 2865 c.2803G>A c.(2803-2805)Gga>Aga p.G935R NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 935 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATTCTGATTCCTTCCGGCTAC 0.582000 74 30 0 0 0.002836 0 0 MANEA 79694 broad.mit.edu 37 6 96053773 96053773 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:96053773C>T uc003poo.2 + 4 1061 c.881C>T c.(880-882)cCt>cTt p.P294L NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN Homo sapiens mannosidase, endo-alpha (MANEA), mRNA. 294 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CGCAATTCTCCTTATGATGGA 0.368000 46 15 0 0 0.003163 0 0 TBC1D13 54662 broad.mit.edu 37 9 131568245 131568245 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:131568245C>T uc010myj.3 + 9 1149 c.1026C>T c.(1024-1026)ttC>ttT p.F342F TBC1D13_uc010myk.3_Silent_p.F217F|TBC1D13_uc010myl.3_Silent_p.F161F NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA. 342 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ACTCCCTCTTCGCCGATGACA 0.582000 22 7 0 0 0.004482 0 0 KRT84 3890 broad.mit.edu 37 12 52776840 52776840 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:52776840C>T uc001sah.1 - 2 813 c.765G>A c.(763-765)gaG>gaA p.E255E NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 255 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) ATACCACTTCCTCTTCATACC 0.498000 46 12 0 0 0.003163 0 0 DDX42 11325 broad.mit.edu 37 17 61888459 61888459 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61888459C>T uc002jbu.3 + 13 1581 c.1324C>T c.(1324-1326)Cgg>Tgg p.R442W DDX42_uc002jbv.3_Missense_Mutation_p.R442W|DDX42_uc002jbw.1_Missense_Mutation_p.R178W|DDX42_uc002jbx.3_Missense_Mutation_p.R178W|DDX42_uc002jby.3_5'Flank NM_007372 NP_987095 Q86XP3 DDX42_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA. 442 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TGCAACTTTTCGGAAGAAGAT 0.408000 38 6 0 0 0.001168 0 0 SEZ6L 23544 broad.mit.edu 37 22 26690284 26690284 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:26690284C>T uc003acb.3 + 2 1058 c.862C>T c.(862-864)Cct>Tct p.P288S SEZ6L_uc003acd.3_Missense_Mutation_p.P288S|SEZ6L_uc011akd.2_Missense_Mutation_p.P288S|SEZ6L_uc003ace.3_Missense_Mutation_p.P288S|SEZ6L_uc011akc.2_Missense_Mutation_p.P288S|SEZ6L_uc003acc.3_Missense_Mutation_p.P288S|SEZ6L_uc003acf.1_Missense_Mutation_p.P61S|SEZ6L_uc010gvc.1_Missense_Mutation_p.P61S NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 288 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTTCTCCAATCCTGAGGGGTA 0.512000 46 37 0 0 0.008740 0 0 SBNO1 55206 broad.mit.edu 37 12 123801828 123801828 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:123801828G>C uc010tap.2 - 19 2875 c.2875C>G c.(2875-2877)Cga>Gga p.R959G SBNO1_uc010tao.2_Missense_Mutation_p.R958G|SBNO1_uc010taq.2_Intron|SBNO1_uc001ues.1_5'Flank NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 959 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TGAACTCTTCGCCTTTGATTT 0.368000 56 15 0 0 0.003163 0 0 CACNG5 27091 broad.mit.edu 37 17 64873459 64873459 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:64873459C>T uc010wqi.2 + 1 246 c.9C>T c.(7-9)gcC>gcT p.A3A CACNG5_uc010wqj.2_Silent_p.A3A NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 3 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) AGATGAGTGCCTGCGGGAGGA 0.637000 14 21 0 0 0.002780 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36244917 36244917 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:36244917G>A uc001wtj.3 - 1 532 c.141C>T c.(139-141)ttC>ttT p.F47F RALGAPA1_uc001wti.3_Silent_p.F47F|RALGAPA1_uc010tpv.2_Silent_p.F47F|RALGAPA1_uc010tpw.1_Silent_p.F47F NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 47 activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AATGTTGGTCGAAAAACTGTT 0.264000 61 14 0 0 0.002450 0 0 TGM4 7047 broad.mit.edu 37 3 44951607 44951607 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:44951607G>A uc003coc.4 + 10 1426 c.1353G>A c.(1351-1353)atG>atA p.M451I NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 451 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGCAGGTCATGGATCATGCCT 0.517000 39 12 0 0 0.000978 0 0 TLR4 7099 broad.mit.edu 37 9 120475240 120475240 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:120475240G>A uc004bjz.3 + 2 1125 c.834G>A c.(832-834)gaG>gaA p.E278E TLR4_uc004bkb.3_Silent_p.E78E|TLR4_uc004bka.3_Silent_p.E238E NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 278 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTGCTCTAGAGGGCCTGTGCA 0.363000 54 51 0 0 0.003610 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698219 111698219 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:111698219C>T uc022cct.1 + 0 263 c.263C>T c.(262-264)tCt>tTt p.S88F ZCCHC16_uc004epo.1_Missense_Mutation_p.S88F NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA. 88 nucleic acid binding|zinc ion binding p.I87I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTCCAAATCTCTAATCCTGCA 0.448000 0 39 0 0 0.002222 0 0 LY9 4063 broad.mit.edu 37 1 160788049 160788049 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:160788049A>C uc001fwu.3 + 5 1434 c.1384A>C c.(1384-1386)Atg>Ctg p.M462L LY9_uc001fwv.3_Missense_Mutation_p.M462L|LY9_uc001fww.3_Missense_Mutation_p.M372L|LY9_uc001fwy.1_Missense_Mutation_p.M274L|LY9_uc001fwz.3_Missense_Mutation_p.M114L NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 462 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTTGTTCCTGATGGTTTGCCT 0.468000 38 22 0 0 0.003954 0 0 TET1 80312 broad.mit.edu 37 10 70451120 70451120 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:70451120T>C uc001jok.4 + 11 6465 c.5960T>C c.(5959-5961)tTg>tCg p.L1987S NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1987 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GAGGAGAAATTGCCCCACATT 0.498000 47 43 0 0 0.003610 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562967 140562967 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140562967C>T uc003liv.3 + 0 1988 c.833C>T c.(832-834)tCa>tTa p.S278L NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 278 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAAAATATCATACACACTC 0.468000 32 8 0 0 0.004482 0 0 TLN2 83660 broad.mit.edu 37 15 63000770 63000770 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:63000770C>T uc002alb.4 + 17 2242 c.2242C>T c.(2242-2244)Cgc>Tgc p.R748C NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 748 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCTGGTGGACCGCTCGGTGGA 0.617000 36 6 0 0 0.001168 0 0 LGI3 203190 broad.mit.edu 37 8 22006231 22006231 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:22006231G>A uc003xav.3 - 7 1378 c.1089C>T c.(1087-1089)ggC>ggT p.G363G LGI3_uc010ltu.3_Silent_p.G339G NM_139278 NP_644807 Q8N145 LGI3_HUMAN Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA. 363 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) GGGAGTAGAAGCCATTCTGGT 0.632000 15 14 0 0 0.004990 0 0 UACA 55075 broad.mit.edu 37 15 70960839 70960839 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:70960839G>A uc002asr.3 - 15 2288 c.2184C>T c.(2182-2184)ctC>ctT p.L728L UACA_uc010uke.2_Silent_p.L619L|UACA_uc002asq.3_Silent_p.L715L|UACA_uc010bin.1_Silent_p.L703L NM_018003 NP_060473 Q9BZF9 UACA_HUMAN Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA. 728 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GCTCCTTGAGGAGCTTATTAT 0.308000 45 38 0 0 0.003755 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692922 187692922 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:187692922C>T uc002upu.1 - 8 1731 c.1691G>A c.(1690-1692)aGa>aAa p.R564K NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 564 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTTGTCCTCTCTTATTTTAGT 0.378000 22 13 0 0 0.001855 0 0 CD2AP 23607 broad.mit.edu 37 6 47576971 47576971 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:47576971C>T uc003oyw.3 + 15 2201 c.1745C>T c.(1744-1746)tCc>tTc p.S582F NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 582 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton p.S582C(2) kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AAAAAAAATTCCCTGGATGAA 0.393000 35 35 0 0 0.005524 0 0 LINC00518 221718 broad.mit.edu 37 6 10429936 10429936 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:10429936G>A uc003myz.2 - 2 c.1100C>T Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA. CCACAAAAAAGAAAAAGAAGC 0.353000 1 4 0 0 0.000248 0 0 NCOR2 9612 broad.mit.edu 37 12 124824629 124824629 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:124824629C>T uc021rga.1 - 36 5748 c.5631G>A c.(5629-5631)caG>caA p.Q1877Q NCOR2_uc021rgb.1_Silent_p.Q1861Q|NCOR2_uc010tbb.2_Silent_p.Q1870Q|NCOR2_uc010tbc.2_Silent_p.Q1860Q|NCOR2_uc021rgc.1_Silent_p.Q1860Q|NCOR2_uc010tba.2_Silent_p.Q1878Q|NCOR2_uc010tax.2_5'UTR NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1881 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CACTGGGTCTCTGCTGGAGGG 0.687000 35 10 0 0 0.001368 0 0 MTBP 27085 broad.mit.edu 37 8 121509778 121509778 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:121509778C>T uc003ypc.1 + 13 1638 c.1593C>T c.(1591-1593)acC>acT p.T531T NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA. 531 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AAATTAAAACCTTCAATATAT 0.259000 19 9 0 0 0.004482 0 0 BIRC6 57448 broad.mit.edu 37 2 32724828 32724829 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:32724828_32724829GG>AA uc010ezu.3 + 45 8817_8818 c.8683_8684GG>AA c.(8683-8685)gga>AAa p.G2895K NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2895 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATGCTTTGGGGGACTCTTTGCC 0.416000 89 46 0 0 0.004672 0 0 ABCC4 10257 broad.mit.edu 37 13 95816740 95816740 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:95816740C>T uc001vmd.4 - 15 2186 c.2067G>A c.(2065-2067)gaG>gaA p.E689E ABCC4_uc010afk.3_Intron|ABCC4_uc001vme.2_Silent_p.E689E|ABCC4_uc010tih.1_Silent_p.E614E NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 689 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CAGAACGGTTCTCCTCTGATA 0.408000 15 11 0 0 0.000978 0 0 OR6C1 390321 broad.mit.edu 37 12 55715321 55715321 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:55715321G>A uc010spi.2 + 1 939 c.939_splice c.e1+1 p.*313_splice NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 ACAAGCACATGAAATGGTATG 0.403000 17 7 0 0 0.003080 0 0 ODZ3 55714 broad.mit.edu 37 4 183601411 183601411 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:183601411G>A uc003ivd.1 + 7 1623 c.1548G>A c.(1546-1548)gtG>gtA p.V516V ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 516 EGF-like 1. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGTCTGTGGTGGAATGTCCCC 0.423000 23 7 0 0 0.003080 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967344 31967344 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:31967344G>A uc010gek.3 - 8 1196 c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L CDK5RAP1_uc002wyy.3_Silent_p.L254L|CDK5RAP1_uc002wyz.3_Silent_p.L344L|CDK5RAP1_uc002wza.3_Silent_p.L344L|CDK5RAP1_uc010gel.3_Silent_p.L254L|CDK5RAP1_uc010gem.3_Intron|CDK5RAP1_uc002wzc.1_Silent_p.L344L NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA. 358 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity p.R357H(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 ACCTGATCCAGAAGATGAGCA 0.493000 28 16 0 0 0.004007 0 0 DAPK2 23604 broad.mit.edu 37 15 64200735 64200735 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:64200735C>T uc002amr.3 - 11 1128 c.1097G>A c.(1096-1098)aGg>aAg p.R366K DAPK2_uc010uim.2_Non-coding_Transcript NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 366 apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) GGTGCTGCTCCTCCTCCGTGG 0.607000 4 4 0 0 0.000602 0 0 PIGF 5281 broad.mit.edu 37 2 46840911 46840911 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:46840911A>G uc002rvd.3 - 2 406 c.242T>C c.(241-243)tTg>tCg p.L81S PIGF_uc002rvc.3_Missense_Mutation_p.L81S NM_002643 NP_002634 Q07326 PIGF_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA. 81 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity breast(1)|endometrium(1)|lung(1)|stomach(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) ACAGCATTTCAAAAATCCAGT 0.308000 10 3 0 0 0.004672 0 0 SPDYE5 442590 broad.mit.edu 37 7 75130754 75130754 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:75130754G>A uc011kfy.2 + 4 840 c.704G>A c.(703-705)gGg>gAg p.G235E DQ601342_uc022agh.1_5'Flank NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA. 235 TTCCTGTATGGGAAGAACCGC 0.552000 108 34 0 0 0.003610 0 0 MMP26 56547 broad.mit.edu 37 11 5010922 5010922 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5010922C>T uc001lzv.3 + 1 162 c.144C>T c.(142-144)ctC>ctT p.L48L NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 48 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTCGCCACTCCTTACCCAGG 0.473000 8 9 0 0 0.001368 0 0 CD93 22918 broad.mit.edu 37 20 23065308 23065309 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:23065308_23065309CC>TT uc002wsv.3 - 0 1669_1670 c.1521_1522GG>AA c.(1519-1524)gagggc>gaAAgc p.G508S NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 508 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TTGGGGGTGCCCTCGGGGCCCC 0.644000 22 23 0 0 0.004672 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100871156 100871156 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:100871156G>A uc002bvv.1 - 2 633 c.554C>T c.(553-555)tCc>tTc p.S185F ADAMTS17_uc002bvx.1_5'UTR NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 185 proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGGGGTCAAGGACCATTTGCG 0.582000 36 28 0 0 0.007291 0 0 CXADR 1525 broad.mit.edu 37 21 18931355 18931355 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:18931355G>A uc002yki.3 + 3 701 c.477G>A c.(475-477)aaG>aaA p.K159K CXADR_uc002ykh.2_Silent_p.K159K|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Silent_p.K159K|CXADR_uc002ykj.2_Silent_p.K159K NM_001338 NP_001329 P78310 CXAR_HUMAN Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA. 159 Ig-like C2-type 2. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) GTGACTTTAAGATAAAATGTG 0.358000 25 19 0 0 0.006122 0 0 TRIM24 8805 broad.mit.edu 37 7 138269649 138269649 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:138269649C>T uc003vuc.3 + 18 3321 c.3106C>T c.(3106-3108)Cgg>Tgg p.R1036W TRIM24_uc003vub.3_Missense_Mutation_p.R1002W NM_015905 NP_056989 O15164 TIF1A_HUMAN Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA. 1036 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding p.P1035L(1) breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TGTACAGCCCCGGAAGAAACG 0.363000 21 35 0 0 0.002836 0 0 NRK 203447 broad.mit.edu 37 X 105184003 105184003 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:105184003G>A uc004emd.3 + 22 4240 c.3937G>A c.(3937-3939)Ggc>Agc p.G1313S NRK_uc010npc.1_Missense_Mutation_p.G981S NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1313 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TAAGTTAACAGGCTGTGAACA 0.363000 HNSCC(51;0.14) 0 6 0 0 0.001168 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202066 140202066 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140202066G>A uc003lhl.2 + 0 706 c.706G>A c.(706-708)Gat>Aat p.D236N 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_uc003lhk.1_Missense_Mutation_p.D236N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.D236N NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 252 Cadherin 2. 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) GGATGCTAATGATAACGCCCC 0.378000 28 40 0 0 0.002222 0 0 NCOA2 10499 broad.mit.edu 37 8 71068277 71068277 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:71068277G>A uc003xyn.1 - 10 2485 c.2323C>T c.(2323-2325)Cct>Tct p.P775S NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 775 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTACTGGCAGGATCTGTCTTA 0.403000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 39 27 0 0 0.005443 0 0 BIRC6 57448 broad.mit.edu 37 2 32706501 32706501 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:32706501C>T uc010ezu.3 + 37 7656 c.7522C>T c.(7522-7524)Ctt>Ttt p.L2508F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2508 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.P2507H(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AAAGGACCCTCTTGCAGCCAA 0.428000 7 23 0 0 0.001882 0 0 CAPN11 11131 broad.mit.edu 37 6 44145010 44145010 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:44145010C>T uc003owt.1 + 11 1307 c.1269C>T c.(1267-1269)atC>atT p.I423I CAPN11_uc011dvn.2_Silent_p.I77I NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN Homo sapiens calpain 11 (CAPN11), mRNA. 423 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGTTTAAGATCTCTCTTCCTG 0.607000 6 9 0 0 0.004482 0 0 MYH4 4622 broad.mit.edu 37 17 10358975 10358975 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:10358975C>T uc002gmn.3 - 18 2241 c.2130G>A c.(2128-2130)agG>agA p.R710R AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 710 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GGAAGCCTTTCCTGCAGATGC 0.453000 40 13 0 0 0.003163 0 0 GRM8 2918 broad.mit.edu 37 7 126882983 126882983 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:126882983G>A uc003vlr.2 - 0 587 c.276C>T c.(274-276)ctC>ctT p.L92L GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L92L|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 92 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGTTGGAAAGGAGATCAGGGT 0.502000 HNSCC(24;0.065) 10 18 0 0 0.001523 0 0 RIMS2 9699 broad.mit.edu 37 8 104948865 104948865 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:104948865G>A uc003yls.3 + 10 2037 c.1796G>A c.(1795-1797)cGa>cAa p.R599Q RIMS2_uc003ylp.3_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.3_Missense_Mutation_p.R206Q NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 883 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding p.R613Q(3)|p.R888Q(3)|p.R599Q(3) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAGTCCACCGAAGAGAATTT 0.388000 HNSCC(12;0.0054) 46 34 0 0 0.003271 0 0 NBPF1 55672 broad.mit.edu 37 1 16895665 16895665 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:16895665G>A uc009vos.1 - 22 3405 c.2517C>T c.(2515-2517)ctC>ctT p.L839L NBPF1_uc009vot.1_Silent_p.L297L|NBPF1_uc001ayz.1_Silent_p.L297L|NBPF1_uc010oce.1_Silent_p.L568L NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 839 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGAATTGAGAGAGTCGAAT 0.507000 203 51 0 0 0.003610 0 0 ANKRD20A3 441425 broad.mit.edu 37 9 67951980 67951980 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:67951980G>A uc004aeu.3 + 8 1055 c.943G>A c.(943-945)Gaa>Aaa p.E315K ANKRD20A3_uc010mnn.3_Missense_Mutation_p.E314K NM_001012419 NP_115626 Q5VUR7 A20A3_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA. 315 ATCTTCGCATGAAAAAGGAAA 0.413000 131 22 0 0 0.006230 0 0 R3HDM1 23518 broad.mit.edu 37 2 136396503 136396503 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:136396503C>T uc002tuo.3 + 13 1400 c.1030C>T c.(1030-1032)Cat>Tat p.H344Y R3HDM1_uc010fni.3_Missense_Mutation_p.H342Y|R3HDM1_uc002tup.3_Missense_Mutation_p.H288Y|R3HDM1_uc010zbh.2_Missense_Mutation_p.H176Y NM_015361 NP_056176 Q15032 R3HD1_HUMAN Homo sapiens R3H domain containing 1 (R3HDM1), mRNA. 344 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TACAAATAGCCATCAAAGCAG 0.398000 72 32 0 0 0.002445 0 0 CPNE4 131034 broad.mit.edu 37 3 131624108 131624108 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:131624108C>T uc011blq.2 - 2 344 c.234_splice c.e2+1 p.E78_splice CPNE4_uc003eok.3_Splice_Site_p.E60_splice|CPNE4_uc003eol.3_Splice_Site_p.E78_splice|CPNE4_uc003eom.3_Splice_Site_p.E60_splice NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 60 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 ACATGCCTACCTCAAACCACT 0.438000 50 46 0 0 0.003610 0 0 TMEM39B 55116 broad.mit.edu 37 1 32560520 32560520 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:32560520G>A uc010ogv.2 + 6 1209 c.1063G>A c.(1063-1065)Ggc>Agc p.G355S TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Missense_Mutation_p.G228S|TMEM39B_uc001buf.4_Missense_Mutation_p.G156S|TMEM39B_uc010ogw.2_Missense_Mutation_p.G156S NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN Homo sapiens transmembrane protein 39B (TMEM39B), mRNA. 355 integral to membrane p.G228R(1) endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CGCCCATCTGGGCTGTTGGCA 0.627000 17 11 0 0 0.000978 0 0 TOP1MT 116447 broad.mit.edu 37 8 144399903 144399903 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:144399903G>A uc003yxz.3 - 9 1339 c.1320C>T c.(1318-1320)gcC>gcT p.A440A TOP1MT_uc011lkd.2_Silent_p.A342A|TOP1MT_uc011lke.2_Silent_p.A342A|TOP1MT_uc011lkf.2_Silent_p.A235A NM_052963 NP_443195 Q969P6 TOP1M_HUMAN Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA. 440 DNA topological change chromosome|mitochondrial nucleoid ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CGCGCGTCAGGGCCCGCAGCT 0.697000 14 7 0 0 0.008291 0 0 SLC27A6 28965 broad.mit.edu 37 5 128351666 128351666 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:128351666G>A uc003kuy.3 + 5 1454 c.1058G>A c.(1057-1059)gGa>gAa p.G353E SLC27A6_uc003kuz.3_Missense_Mutation_p.G353E NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 353 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GACAGATTTGGAAATATAAAG 0.378000 46 19 0 0 0.001523 0 0 H3F3B 3021 broad.mit.edu 37 17 73775010 73775010 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73775010A>T uc002jpl.3 - 2 296 c.163T>A c.(163-165)Tat>Aat p.Y55N NM_005324 NP_005315 P84243 H33_HUMAN Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA. 55 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GACTTCTGATAACGACGAATC 0.632000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 9 0 0 0.006214 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386733 56386733 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:56386733G>A uc002ivx.4 - 21 4771 c.3900C>T c.(3898-3900)ccC>ccT p.P1300P BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.P1240P|BZRAP1_uc010wnt.2_Silent_p.P1300P NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1300 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAAAGGGGTCGGGCTGGGACT 0.582000 36 11 0 0 0.001368 0 0 ATP2C2 9914 broad.mit.edu 37 16 84474529 84474529 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:84474529G>A uc010chj.3 + 13 1365 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K ATP2C2_uc002fhx.3_Missense_Mutation_p.E426K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E443K|ATP2C2_uc002fhz.3_Missense_Mutation_p.E275K NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 426 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AGTCATTAAGGAATTTTCCAA 0.502000 11 18 0 0 0.008871 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453000 49 5 0 0 0.000602 0 0 ECSIT 51295 broad.mit.edu 37 19 11624692 11624692 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:11624692G>A uc002msb.3 - 2 575 c.441C>T c.(439-441)atC>atT p.I147I ECSIT_uc010dyc.2_Silent_p.I147I|ECSIT_uc010dyd.3_Silent_p.I147I|ECSIT_uc010xma.2_Intron NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 147 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 AGATGCGCTGGATGATGTTGC 0.612000 22 4 0 0 0.000248 0 0 V_alpha_immunoglobulin 0 broad.mit.edu 37 14 22675459 22675459 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:22675459G>A uc001wdk.2 + 0 42 c.30G>A c.(28-30)ggG>ggA p.G10G 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_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406. TACTCCTAGGGATATTGGGGT 0.453000 48 15 0 0 0.001523 0 0 ZNF283 284349 broad.mit.edu 37 19 44351370 44351370 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:44351370C>T uc002oxr.4 + 6 885 c.617C>T c.(616-618)tCc>tTc p.S206F ZNF283_uc002oxp.4_Missense_Mutation_p.S67F NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN Homo sapiens zinc finger protein 283 (ZNF283), mRNA. 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) ACAGAGAAATCCTATGTTTGT 0.338000 40 13 0 0 0.001368 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105454852 105454852 + Splice_Site SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:105454852T>C uc001tlc.3 - 9 1175 c.1048_splice c.e9-1 p.V350_splice ALDH1L2_uc009zuo.3_Splice_Site|ALDH1L2_uc009zup.3_Splice_Site NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 350 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 CCAGATGACCTACACAAAAAG 0.433000 17 8 0 0 0.003080 0 0 ADCY1 107 broad.mit.edu 37 7 45650040 45650040 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:45650040G>A uc003tne.4 + 2 870 c.852G>A c.(850-852)ctG>ctA p.L284L ADCY1_uc003tnd.3_Silent_p.L59L NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 284 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGGACTTCCTGAAGCCCCCTG 0.602000 40 34 0 0 0.005524 0 0 THSD7B 80731 broad.mit.edu 37 2 137928389 137928389 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:137928389T>C uc002tva.1 + 5 1511 c.1511T>C c.(1510-1512)gTt>gCt p.V504A THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.V394A NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGGAGTCTGTTCCTTGTGAG 0.498000 18 25 0 0 0.003330 0 0 DNAJC10 54431 broad.mit.edu 37 2 183623904 183623904 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:183623904C>T uc002uow.1 + 20 2430 c.2015C>T c.(2014-2016)tCc>tTc p.S672F DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.S626F|DNAJC10_uc010fro.1_Non-coding_Transcript NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA. 672 Thioredoxin 4. ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CCTCAAGTATCCACAGATCTA 0.328000 28 10 0 0 0.006214 0 0 SEC14L3 266629 broad.mit.edu 37 22 30864607 30864607 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:30864607C>T uc003ahy.3 - 4 400 c.311G>A c.(310-312)gGg>gAg p.G104E SEC14L3_uc003ahz.3_Missense_Mutation_p.G27E|SEC14L3_uc003aia.3_Missense_Mutation_p.G45E|SEC14L3_uc003aib.3_Missense_Mutation_p.G45E NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 104 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) ATCAAGTGGCCCAATGATGTC 0.552000 36 32 0 0 0.004878 0 0 TRANK1 9881 broad.mit.edu 37 3 36898642 36898642 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:36898642C>T uc003cgj.3 - 11 2687 c.2439G>A c.(2437-2439)aaG>aaA p.K813K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 813 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGATGATTTTCTTCTTGATGA 0.507000 105 72 0 0 0.003610 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51656392 51656392 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:51656392G>A uc002pvv.1 + 6 1363 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K SIGLEC7_uc002pvw.1_Missense_Mutation_p.E339K|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_3'UTR NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 432 cell adhesion integral to plasma membrane receptor activity|sugar binding p.E431E(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTCAGGGGAGGAAAGAGAGAT 0.532000 31 35 0 0 0.004289 0 0 USP6 9098 broad.mit.edu 37 17 5042908 5042908 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:5042908C>T uc002gau.1 + 21 3667 c.1437C>T c.(1435-1437)gtC>gtT p.V479V USP6_uc002gav.1_Silent_p.V479V|USP6_uc010ckz.1_Silent_p.V162V|DQ573130_uc002gbd.3_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 479 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GCTGCTGGGTCCGTGCCATAT 0.592000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 47 13 0 0 0.003163 0 0 IRX6 79190 broad.mit.edu 37 16 55361545 55361546 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:55361545_55361546CC>TT uc002ehy.3 + 3 994_995 c.461_462CC>TT c.(460-462)acc>aTT p.T154I IRX6_uc002ehx.3_Missense_Mutation_p.T154I|IRX6_uc010ccb.1_Non-coding_Transcript NM_024335 NP_077311 P78412 IRX6_HUMAN Homo sapiens iroquois homeobox 6 (IRX6), mRNA. 154 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 AAGAACGCGACCCGGGAGACCA 0.569000 19 7 0 0 0.004672 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169579 33169579 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:33169579C>T uc003odf.3 + 2 586 c.469C>T c.(469-471)Ccc>Tcc p.P157S RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.P157S|SLC39A7_uc011dqv.2_Missense_Mutation_p.P32S|HSD17B8_uc003odi.1_5'Flank NM_001077516 NP_008910 Q92504 S39A7_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA. 157 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CTTCCTTATCCCCGTGGAGTC 0.547000 39 36 0 0 0.002836 0 0 URI1 8725 broad.mit.edu 37 19 30502112 30502112 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:30502112C>T uc002nsr.3 + 8 1456 c.1147C>T c.(1147-1149)Ccg>Tcg p.P383S URI1_uc002nsq.3_Missense_Mutation_p.P365S|URI1_uc002nss.3_Missense_Mutation_p.P343S|URI1_uc002nst.3_Missense_Mutation_p.P307S NM_003796 NP_003787 O94763 RMP_HUMAN Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA. 383 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding CCAGGAGCTGCCGACCATCAG 0.512000 62 48 0 0 0.003610 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670802 131670802 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:131670802G>A uc004bwl.4 + 2 1613 c.1359G>A c.(1357-1359)ctG>ctA p.L453L LRRC8A_uc010myp.3_Silent_p.L453L|LRRC8A_uc010myq.3_Silent_p.L453L NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA. 453 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TCCTCAAGCTGGAGCTGATCC 0.612000 9 11 0 0 0.000978 0 0 SYT17 51760 broad.mit.edu 37 16 19236122 19236122 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:19236122C>T uc002dfw.3 + 6 1521 c.1190C>T c.(1189-1191)cCc>cTc p.P397L SYT17_uc002dfx.3_Missense_Mutation_p.P336L|SYT17_uc002dfy.3_Missense_Mutation_p.P393L NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN Homo sapiens synaptotagmin XVII (SYT17), mRNA. 397 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 TTCAAAGTTCCCCAAGAAGAA 0.453000 49 27 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9083510 9083510 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:9083510C>T uc002mkp.3 - 0 8509 c.8305G>A c.(8305-8307)Gag>Aag p.E2769K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2769 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 GCCGTTGTCTCTGAGTTTTCA 0.498000 16 21 0 0 0.008871 0 0 PTPRT 11122 broad.mit.edu 37 20 41100959 41100959 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:41100959T>C uc002xkg.3 - 7 1581 c.1397A>G c.(1396-1398)aAc>aGc p.N466S PTPRT_uc010ggj.3_Missense_Mutation_p.N466S NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 466 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCCTCGGGGTTAGACAGCAA 0.597000 33 28 0 0 0.002096 0 0 LRRC66 339977 broad.mit.edu 37 4 52861881 52861881 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:52861881G>A uc003gzi.3 - 3 1314 c.1307C>T c.(1306-1308)cCa>cTa p.P436L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 436 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CTCTGGGTGTGGTGTGTGCCC 0.552000 42 38 0 0 0.006230 0 0 GRM3 2913 broad.mit.edu 37 7 86415737 86415737 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:86415737G>A uc003uid.3 + 2 1728 c.629G>A c.(628-630)tGg>tAg p.W210* GRM3_uc010lef.3_Nonsense_Mutation_p.W208*|GRM3_uc010leg.3_Nonsense_Mutation_p.W82*|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 210 synaptic transmission integral to plasma membrane p.N209N(2) 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) TTCTTCAACTGGACCTACGTG 0.572000 28 26 0 0 0.007291 0 0 MYH8 4626 broad.mit.edu 37 17 10323467 10323467 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:10323467C>T uc002gmm.2 - 2 173 c.78G>A c.(76-78)cgG>cgA p.R26R AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 26 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.R26W(1)|p.R26P(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GGGCCTCAATCCGCTCCTTTT 0.478000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 84 39 0 0 0.005524 0 0 COL5A1 1289 broad.mit.edu 37 9 137704451 137704451 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:137704451G>A uc004cfe.3 + 48 4127 c.3745_splice c.e48-1 p.G1249_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1249 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTTTTCCTAGGGCCCCCCGGG 0.622000 6 4 0 0 0.000248 0 0 C1S 716 broad.mit.edu 37 12 7175788 7175788 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:7175788C>T uc001qsj.3 + 13 1943 c.1224C>T c.(1222-1224)agC>agT p.S408S C1S_uc001qsk.3_Silent_p.S408S|C1S_uc001qsl.3_Silent_p.S408S|C1S_uc009zfr.3_Silent_p.S241S|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 408 Sushi 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GTAACGGGAGCTGGGTGAATG 0.582000 50 13 0 0 0.003163 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739670 46739670 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:46739670C>T uc021vgv.1 - 0 181 c.181G>A c.(181-183)Gag>Aag p.E61K ATP6V1E2_uc002ruy.3_Missense_Mutation_p.E61K NM_080653 NP_542384 Q96A05 VATE2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA. 61 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) ATCTGCTTCTCCTTTTTCTCA 0.458000 67 26 0 0 0.003330 0 0 TTC3 7267 broad.mit.edu 37 21 38538328 38538329 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:38538328_38538329CC>TT uc002yvz.3 + 32 3917_3918 c.3812_3813CC>TT c.(3811-3813)ccc>cTT p.P1271L TTC3_uc011aee.1_Missense_Mutation_p.P961L|TTC3_uc002ywa.3_Missense_Mutation_p.P1271L|TTC3_uc002ywb.3_Missense_Mutation_p.P1271L|TTC3_uc010gnf.3_Missense_Mutation_p.P1036L|TTC3_uc002ywc.3_Missense_Mutation_p.P961L|TTC3_uc002ywd.1_Missense_Mutation_p.P335L NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1271 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GATGGGCAACCCAAAGGGGTCT 0.465000 37 57 0 0 0.004672 0 0 SERPINA6 866 broad.mit.edu 37 14 94772500 94772500 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94772500C>T uc001ycv.3 - 3 1044 c.940G>A c.(940-942)Gat>Aat p.D314N SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 314 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TCCAGCACATCTCCGAGGTCA 0.527000 38 12 0 0 0.002450 0 0 XIST 7503 broad.mit.edu 37 X 73066500 73066500 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:73066500G>A uc004ebm.1 - 0 c.6089C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. TGCTGGAAGGGAAAAGTGGGG 0.473000 18 8 0 0 0.004482 0 0 RAB33B 83452 broad.mit.edu 37 4 140375442 140375442 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:140375442C>T uc003ihv.3 + 0 482 c.93C>T c.(91-93)tcC>tcT p.S31S NM_031296 NP_112586 Q9H082 RB33B_HUMAN Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA. 31 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) CTGCCCGCTCCCGCATCTTCA 0.627000 9 10 0 0 0.001368 0 0 TACC2 10579 broad.mit.edu 37 10 123845148 123845148 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:123845148C>T uc001lfv.3 + 3 3493 c.3133C>T c.(3133-3135)Cct>Tct p.P1045S TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1045S|TACC2_uc010qtv.2_Missense_Mutation_p.P1045S NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1045 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGAGGCCCCACCTTGTCAGCC 0.617000 12 14 0 0 0.001855 0 0 EIF5AL1 143244 broad.mit.edu 37 10 81272769 81272769 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:81272769G>A uc009xrx.3 + 0 413 c.364G>A c.(364-366)Gag>Aag p.E122K AK302451_uc010qls.1_5'Flank NM_001099692 NP_001093162 Q6IS14 IF5AL_HUMAN Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA. 122 mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport endoplasmic reticulum membrane|nuclear pore ribosome binding|translation elongation factor activity endometrium(1) 1 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CCTTGGCAAGGAGATTGAGCA 0.547000 64 16 0 0 0.004007 0 0 KANSL2 54934 broad.mit.edu 37 12 49072876 49072876 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:49072876C>T uc001rrz.2 - 2 1081 c.1037G>A c.(1036-1038)aGa>aAa p.R346K KANSL2_uc001rrw.2_Intron|KANSL2_uc001rrx.2_Missense_Mutation_p.R163K|KANSL2_uc001rry.2_Intron NM_017822 NP_060292 Q9H9L4 CL041_HUMAN Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA. 163 AGGGTCACCTCTCCATGTCTG 0.468000 17 8 0 0 0.006214 0 0 DST 667 broad.mit.edu 37 6 56507426 56507426 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:56507426C>T uc003pcy.4 - 0 269 c.161G>A c.(160-162)gGa>gAa p.G54E DST_uc021zay.1_Intron|DST_uc011dxl.1_Intron|DST_uc021zaz.1_Intron|DST_uc021zax.1_Missense_Mutation_p.G54E|DST_uc003pdc.4_Missense_Mutation_p.G54E|DST_uc003pdd.4_Missense_Mutation_p.G54E|DST_uc003pde.2_Intron NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 0 Actin-binding.|CH 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATACCTGTGTCCATCAAAGGA 0.413000 21 14 0 0 0.002450 0 0 KRT73 319101 broad.mit.edu 37 12 53005026 53005026 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:53005026G>A uc001sas.3 - 5 1107 c.1072C>T c.(1072-1074)Caa>Taa p.Q358* NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 358 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CGCAGTCTTTGGATGAGACGG 0.552000 22 18 0 0 0.001523 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365775 7365776 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7365775_7365776GG>AA uc002ghc.4 - 3 2775_2776 c.2525_2526CC>TT c.(2524-2526)tcc>tTT p.S842F ZBTB4_uc002ghd.4_Missense_Mutation_p.S842F NM_001128833 NP_065950 Q9P1Z0 ZBTB4_HUMAN Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA. 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AGGCGGTCTCGGAAGCTTCCTC 0.614000 9 13 0 0 0.004672 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25145914 25145914 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:25145914C>T uc001ise.1 - 5 463 c.434G>A c.(433-435)gGa>gAa p.G145E PRTFDC1_uc010qdd.1_Missense_Mutation_p.G145E|PRTFDC1_uc009xkm.1_Non-coding_Transcript NM_020200 NP_064585 Q9NRG1 PRDC1_HUMAN Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA. 145 GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 CCTCCCAGTTCCGACAACATC 0.408000 41 14 0 0 0.003163 0 0 OR14C36 127066 broad.mit.edu 37 1 248512199 248512199 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:248512199C>T uc010pzl.2 + 0 123 c.123C>T c.(121-123)atC>atT p.I41I NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TGGGAAACATCCTCATTGTGA 0.423000 50 59 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100684576 100684576 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100684576G>A uc003uxp.1 + 2 9932 c.9879G>A c.(9877-9879)gtG>gtA p.V3293V MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3293 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCACAACGGTGGCCAGTTCTG 0.512000 191 167 0 0 0.003610 0 0 SLC16A4 9122 broad.mit.edu 37 1 110923715 110923715 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:110923715A>T uc001dzo.2 - 4 665 c.415T>A c.(415-417)Tac>Aac p.Y139N SLC16A4_uc009wfs.2_Missense_Mutation_p.Y91N|SLC16A4_uc001dzp.2_Missense_Mutation_p.Y139N|SLC16A4_uc010ovy.2_Missense_Mutation_p.Y77N|SLC16A4_uc010ovz.2_Missense_Mutation_p.Y29N|SLC16A4_uc001dzq.2_Missense_Mutation_p.Y77N NM_004696 NP_004687 O15374 MOT5_HUMAN Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA. 139 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) TTTTTGAAGTATTTGGTAGTT 0.388000 21 11 0 0 0.001368 0 0 PCDH19 57526 broad.mit.edu 37 X 99657660 99657660 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:99657660G>A uc010nmz.3 - 2 4154 c.2478C>T c.(2476-2478)cgC>cgT p.R826R PCDH19_uc004efw.4_Silent_p.R779R|PCDH19_uc004efx.4_Silent_p.R779R NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 826 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TCTCAGAGCGGCGGCAGCCCA 0.552000 0 14 0 0 0.001855 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546248 112546248 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:112546248C>T uc003dzi.1 - 2 622 c.396G>A c.(394-396)ggG>ggA p.G132G CD200R1L_uc010hqf.1_Silent_p.G111G|CD200R1L_uc011bhw.1_Silent_p.G111G NM_001008784 NP_001186144 Q6Q8B3 MO2R2_HUMAN Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA. 132 Ig-like V-type. integral to membrane receptor activity p.D131N(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 GATGGAAATTCCCATCAGGTG 0.463000 45 37 0 0 0.006999 0 0 DUS1L 64118 broad.mit.edu 37 17 80020802 80020802 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:80020802G>A uc002kdq.3 - 3 864 c.445C>T c.(445-447)Cgt>Tgt p.R149C DUS1L_uc002kdp.3_Missense_Mutation_p.R18C|DUS1L_uc002kdr.3_Missense_Mutation_p.R149C|DUS1L_uc010wvi.1_Missense_Mutation_p.R132C NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA. 149 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGAAGACACGGATTTTGCAC 0.607000 31 9 0 0 0.008291 0 0 abParts 0 broad.mit.edu 37 22 22758942 22758942 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:22758942G>A uc021wml.1 + 61 c.6732G>A Parts of antibodies, mostly variable regions. ATTCCTGACCGATTCTCTGGC 0.542000 53 50 0 0 0.003610 0 0 NAV3 89795 broad.mit.edu 37 12 78582399 78582399 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:78582399T>C uc001syp.3 + 32 6070 c.5897T>C c.(5896-5898)tTc>tCc p.F1966S NAV3_uc001syo.3_Missense_Mutation_p.F1944S|NAV3_uc010sub.2_Missense_Mutation_p.F1423S|NAV3_uc009zsf.3_Missense_Mutation_p.F775S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 1966 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D1966N(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GAATATGTATTCCGAATTGAT 0.378000 HNSCC(70;0.22) 40 23 0 0 0.004656 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134174 233134174 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:233134174C>T uc001hvl.2 - 31 5849 c.5614G>A c.(5614-5616)Gat>Aat p.D1872N PCNXL2_uc001hvk.1_Missense_Mutation_p.D524N|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1872 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCATTGCAATCCTTCCGCATC 0.587000 23 18 0 0 0.001882 0 0 UNC5D 137970 broad.mit.edu 37 8 35544065 35544065 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:35544065G>A uc003xjr.2 + 6 1250 c.922G>A c.(922-924)Gat>Aat p.D308N UNC5D_uc003xjs.2_Missense_Mutation_p.D303N|UNC5D_uc003xjt.1_Missense_Mutation_p.D77N NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 308 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTTTGAAGTGGATGGGAGCTG 0.517000 18 8 0 0 0.006214 0 0 MECOM 2122 broad.mit.edu 37 3 168833510 168833510 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:168833510G>A uc011bpj.1 - 7 2553 c.2150C>T c.(2149-2151)tCg>tTg p.S717L MECOM_uc010hwk.1_Missense_Mutation_p.S552L|MECOM_uc003ffj.3_Missense_Mutation_p.S594L|MECOM_uc003ffi.3_Missense_Mutation_p.S529L|MECOM_uc011bpi.1_Missense_Mutation_p.S530L|MECOM_uc003ffn.3_Missense_Mutation_p.S529L|MECOM_uc003ffk.2_Missense_Mutation_p.S529L|MECOM_uc003ffl.2_Missense_Mutation_p.S689L|MECOM_uc011bpk.1_Missense_Mutation_p.S529L|MECOM_uc010hwn.2_Missense_Mutation_p.S717L 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 CAAAGGTAACGATCTCAAGTC 0.438000 21 30 0 0 0.006320 0 0 UBE2U 148581 broad.mit.edu 37 1 64672498 64672498 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:64672498C>T uc001dbn.1 + 2 444 c.200C>T c.(199-201)cCt>cTt p.P67L NM_152489 NP_689702 Q5VVX9 UBE2U_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA. 67 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 AACTATGCTCCTCCAGTTGTG 0.299000 28 13 0 0 0.004007 0 0 PAN3 255967 broad.mit.edu 37 13 28830518 28830519 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:28830518_28830519CC>TT uc001urz.3 + 6 1242_1243 c.1090_1091CC>TT c.(1090-1092)cca>TTa p.P364L PAN3_uc010tdo.1_Missense_Mutation_p.P364L|PAN3_uc001ury.3_Missense_Mutation_p.P52L|PAN3_uc001urx.3_Missense_Mutation_p.P164L NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 364 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AAGTCACACTCCAAATCCAGCA 0.460000 58 47 0 0 0.004672 0 0 MICU1 10367 broad.mit.edu 37 10 74267951 74267951 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:74267951G>A uc001jtb.2 - 5 797 c.614C>T c.(613-615)tCc>tTc p.S205F MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Intron|MICU1_uc010qjw.2_5'UTR|MICU1_uc009xqo.2_Non-coding_Transcript NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 205 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding GTCTGAAAAGGATATGAGCCC 0.363000 7 4 0 0 0.000248 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350700 79350700 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:79350700G>A uc002beq.3 - 2 882 c.507C>T c.(505-507)atC>atT p.I169I RASGRF1_uc002bep.3_Silent_p.I169I|RASGRF1_uc010blm.1_Silent_p.I91I|RASGRF1_uc002ber.4_Silent_p.I169I NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 169 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCTCGATCTCGATCTCCCCAT 0.602000 22 36 0 0 0.008740 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60369005 60369005 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:60369005G>A uc003jsp.4 + 1 308 c.181G>A c.(181-183)Gac>Aac p.D61N NDUFAF2_uc003jso.4_Intron NM_174889 NP_777549 Q8N183 MIMIT_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA. 61 membrane|mitochondrion NADH dehydrogenase (ubiquinone) activity|electron carrier activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) AAAAGAAGTAGACTATGAAGC 0.313000 96 41 0 0 0.003610 0 0 C16orf92 146378 broad.mit.edu 37 16 30035536 30035536 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:30035536G>A uc002dvr.2 + 3 328 c.321G>A c.(319-321)caG>caA p.Q107Q BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Silent_p.Q129Q NM_001109659 NP_001103129 Q96LL3 CP092_HUMAN Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA. 129 integral to membrane breast(3)|lung(3) 6 GAAACTTCCAGAAAGGGGCCT 0.587000 14 11 0 0 0.001855 0 0 ABCA8 10351 broad.mit.edu 37 17 66883609 66883609 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:66883609G>A uc002jhq.3 - 24 3523 c.3183C>T c.(3181-3183)tcC>tcT p.S1061S ABCA8_uc002jhp.3_Silent_p.S1021S|ABCA8_uc010wqq.2_Silent_p.S1061S|ABCA8_uc010wqr.2_Silent_p.S1000S NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1021 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AAGCAGAAGGGGAGAGTCCGG 0.433000 145 59 0 0 0.003610 0 0 THEG 51298 broad.mit.edu 37 19 375747 375747 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:375747G>A uc002lol.3 - 0 267 c.224C>T c.(223-225)cCg>cTg p.P75L THEG_uc002lom.3_Missense_Mutation_p.P75L NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA. 75 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTCTCCGGGAACTCCTC 0.602000 41 38 0 0 0.006999 0 0 VIL1 7429 broad.mit.edu 37 2 219313997 219313997 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:219313997G>A uc002vib.3 + 18 2444 c.2422G>A c.(2422-2424)Gcc>Acc p.A808T VIL1_uc010zke.2_Missense_Mutation_p.A497T|VIL1_uc002via.3_Missense_Mutation_p.A808T NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 808 HP.|Headpiece. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACTCCAGCTGCCTTCTCTGC 0.478000 67 97 0 0 0.003610 0 0 PDE8B 8622 broad.mit.edu 37 5 76707948 76707948 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:76707948C>T uc003kfa.3 + 15 1645 c.1600C>T c.(1600-1602)Ctt>Ttt p.L534F PDE8B_uc003kfd.3_Missense_Mutation_p.L487F|PDE8B_uc003kfe.3_Missense_Mutation_p.L437F|PDE8B_uc003kfb.3_Missense_Mutation_p.L514F|PDE8B_uc003kfc.3_Missense_Mutation_p.L479F NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 534 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TCACAGTCACCTTGCAATGCC 0.453000 187 101 0 0 0.003610 0 0 INSRR 3645 broad.mit.edu 37 1 156823977 156823977 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:156823977G>A uc010pht.2 - 1 503 c.204C>T c.(202-204)ttC>ttT p.F68F NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.F68F NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 68 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 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) TGAGGCCGCGGAAGTCCTCCC 0.632000 15 10 0 0 0.000978 0 0 FSIP2 401024 broad.mit.edu 37 2 186672248 186672249 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:186672248_186672249CC>TT uc002upl.3 + 16 18482_18483 c.18482_18483CC>TT c.(18481-18483)acc>aTT p.T6161I FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TATGTAGAAACCTTACAATCTG 0.322000 98 33 0 0 0.004672 0 0 DEPDC7 91614 broad.mit.edu 37 11 33050310 33050310 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:33050310G>A uc001mub.3 + 3 846 c.754G>A c.(754-756)Ggg>Agg p.G252R DEPDC7_uc001muc.3_Missense_Mutation_p.G243R NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA. 252 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TCTGGATCGAGGGATTCTCAA 0.393000 33 26 0 0 0.001786 0 0 TRPC4 7223 broad.mit.edu 37 13 38211283 38211283 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:38211283C>T uc010abx.3 - 10 2941 c.2706G>A c.(2704-2706)ctG>ctA p.L902L TRPC4_uc010abv.3_Silent_p.L477L|TRPC4_uc001uwt.3_Silent_p.L813L|TRPC4_uc001uws.3_Silent_p.L897L|TRPC4_uc010tey.2_Silent_p.L756L|TRPC4_uc010abw.3_Silent_p.L724L|TRPC4_uc010aby.3_Silent_p.L748L NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 897 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CGGGAATGCTCAGGTCACCCC 0.468000 28 25 0 0 0.005443 0 0 PRB2 653247 broad.mit.edu 37 12 11548455 11548455 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:11548455C>T uc010shk.1 - 0 44 c.9G>A c.(7-9)ttG>ttA p.L3L NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACAGCAGAATCAACAGCATCT 0.512000 25 25 0 0 0.002836 0 0 THSD7B 80731 broad.mit.edu 37 2 137872823 137872824 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:137872823_137872824CC>TT uc002tva.1 + 3 1236_1237 c.1236_1237CC>TT c.(1234-1239)gcccag>gcTTag p.Q413* THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.Q303* NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTACTGTGCCCAGAGCGTACC 0.609000 4 6 0 0 0.004672 0 0 CTNNA3 29119 broad.mit.edu 37 10 67829151 67829151 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:67829151C>T uc009xpn.1 - 14 2197 c.2074G>A c.(2074-2076)Gag>Aag p.E692K CTNNA3_uc001jmw.2_Missense_Mutation_p.E692K NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 692 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TCCCATATCTCAATCTCAGCA 0.398000 89 34 0 0 0.005524 0 0 COL22A1 169044 broad.mit.edu 37 8 139790603 139790604 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:139790603_139790604CC>TT uc003yvd.3 - 14 2197_2198 c.1750_1751GG>AA c.(1750-1752)gga>AAa p.G584K NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 584 Collagen-like 3.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TACAGGAGCTCCGACACGTCCA 0.535000 HNSCC(7;0.00092) 17 13 0 0 0.004672 0 0 KPNA6 23633 broad.mit.edu 37 1 32626295 32626295 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:32626295C>T uc010ogy.2 + 6 680 c.653C>T c.(652-654)cCt>cTt p.P218L KPNA6_uc001bug.3_Missense_Mutation_p.P213L|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.P210L NM_012316 NP_036448 O60684 IMA7_HUMAN Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA. 213 NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) ATCCTTAATCCTTTGTTAACG 0.463000 16 11 0 0 0.001368 0 0 BTN1A1 696 broad.mit.edu 37 6 26509300 26509300 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:26509300G>A uc003nif.4 + 6 1536 c.1479G>A c.(1477-1479)aaG>aaA p.K493K NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 493 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 ACCTTTCTAAGGAGATCCCAT 0.547000 32 40 0 0 0.008740 0 0 FSIP1 161835 broad.mit.edu 37 15 39910064 39910064 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:39910064G>A uc001zki.3 - 10 1789 c.1571C>T c.(1570-1572)tCg>tTg p.S524L NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA. 524 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AAGAGTCTTCGACATAAAATA 0.398000 57 17 0 0 0.007413 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176468 140176468 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140176468C>T uc003lhd.2 + 0 2025 c.1919C>T c.(1918-1920)gCt>gTt p.A640V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A640V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A640V NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 651 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAGACGAGGCTGACTCCCCT 0.622000 29 15 0 0 0.003163 0 0 NLRP12 91662 broad.mit.edu 37 19 54313568 54313569 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:54313568_54313569CC>TT uc002qcj.4 - 2 1564_1565 c.1344_1345GG>AA c.(1342-1347)ggggcc>ggAAcc p.A449T NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A449T|NLRP12_uc002qci.4_Missense_Mutation_p.A449T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A449T NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 449 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGGCGCGGGGCCCCCGGCTTGG 0.619000 34 10 0 0 0.004672 0 0 ABCA4 24 broad.mit.edu 37 1 94512554 94512554 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:94512554C>T uc001dqh.3 - 18 2943 c.2839G>A c.(2839-2841)Gac>Aac p.D947N ABCA4_uc010otn.1_Missense_Mutation_p.D873N NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 947 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTCAGACGGTCCACAGCTGGC 0.537000 89 48 0 0 0.003610 0 0 RNF152 220441 broad.mit.edu 37 18 59483372 59483373 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:59483372_59483373CC>TT uc002lih.1 - 1 736_737 c.324_325GG>AA c.(322-327)aaggag>aaAAag p.E109K RNF152_uc021ula.1_Missense_Mutation_p.E109K NM_173557 NP_775828 Q8N8N0 RN152_HUMAN Homo sapiens ring finger protein 152 (RNF152), mRNA. 109 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) AGCGCACGCTCCTTGGAGATGG 0.624000 13 9 0 0 0.004672 0 0 ZNF536 9745 broad.mit.edu 37 19 31038939 31038939 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:31038939C>T uc002nsu.1 + 3 2551 c.2413C>T c.(2413-2415)Cgg>Tgg p.R805W ZNF536_uc010edd.1_Missense_Mutation_p.R805W NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 805 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCATCGGGAGCGGCAGAACGG 0.537000 66 11 0 0 0.001368 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121776 117121776 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:117121776C>T uc003pxj.1 - 3 1541 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K GPRC6A_uc003pxk.1_Missense_Mutation_p.E332K|GPRC6A_uc003pxl.1_Intron NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 507 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTTTTTGTTTCCTGATCTGGG 0.423000 65 52 0 0 0.003610 0 0 KDM6B 23135 broad.mit.edu 37 17 7753485 7753486 + Silent DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7753485_7753486CC>TT uc002gix.3 + 2 2406_2407 c.1569_1570CC>TT c.(1567-1572)tccctg>tcTTtg p.523_524SL>SL KDM6B_uc002giw.1_Silent_p.1221_1222SL>SL NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 1221 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 TGGCGGGCTCCCTGCGGCTCAG 0.579000 6 7 0 0 0.004672 0 0 RASGRF2 5924 broad.mit.edu 37 5 80363978 80363978 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:80363978A>G uc003kha.2 + 2 573 c.523A>G c.(523-525)Atc>Gtc p.I175V RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_5'Flank NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 175 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding p.I175T(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AGACACAGAAATCGAAAGGCT 0.378000 30 15 0 0 0.004990 0 0 DLEC1 9940 broad.mit.edu 37 3 38163826 38163826 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:38163826G>A uc003chp.1 + 35 5088 c.5067G>A c.(5065-5067)tcG>tcA p.S1689S DLEC1_uc003cho.1_Missense_Mutation_p.G1731S|DLEC1_uc010hgv.1_Missense_Mutation_p.G1734S|DLEC1_uc003chr.1_Missense_Mutation_p.G802S|DLEC1_uc003chs.1_Silent_p.S246S NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 0 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGGTGTGCTCGGTGAGAAGTC 0.642000 26 29 0 0 0.002836 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113587 55113588 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:55113587_55113588CC>TT uc003pcl.3 + 1 689_690 c.374_375CC>TT c.(373-375)tcc>tTT p.S125F HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.S60F NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 125 feeding behavior integral to plasma membrane neuropeptide receptor activity p.S125C(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTGGACAGTCCCTTTGCAAAG 0.421000 120 20 0 0 0.004672 0 0 GSS 2937 broad.mit.edu 37 20 33517333 33517333 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:33517333T>A uc002xbg.3 - 11 1252 c.1172A>T c.(1171-1173)gAg>gTg p.E391V GSS_uc010zun.2_Missense_Mutation_p.E263V|GSS_uc010zuo.2_Missense_Mutation_p.E280V|GSS_uc010zup.2_Missense_Mutation_p.E322V|GSS_uc010gez.1_Missense_Mutation_p.E121V NM_000178 NP_000169 P48637 GSHB_HUMAN Homo sapiens glutathione synthetase (GSS), mRNA. 391 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GGAGGCCCTCTCCTCACTGTC 0.547000 111 78 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9085683 9085683 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:9085683C>T uc002mkp.3 - 0 6336 c.6132G>A c.(6130-6132)agG>agA p.R2044R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2044 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 TTGCATTCCTCCTACTGATTG 0.488000 60 52 0 0 0.003610 0 0 HPX 3263 broad.mit.edu 37 11 6461946 6461946 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:6461946C>T uc001mdg.2 - 1 159 c.98G>A c.(97-99)gGg>gAg p.G33E HPX_uc009yfc.2_Non-coding_Transcript|HPX_uc010rai.1_Missense_Mutation_p.G33E NM_000613 NP_000604 P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 33 O-glycosylated at one, two and three sites. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) AGCAACATTCCCATGGGCACT 0.507000 39 24 0 0 0.006320 0 0 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:123742403G>A uc004bkv.3 - 27 3646 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1206 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.408000 49 11 0 0 0.008291 0 0 HYDIN 54768 broad.mit.edu 37 16 71012907 71012907 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:71012907C>T uc002ezr.3 - 29 4696 c.4545G>A c.(4543-4545)agG>agA p.R1515R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1516 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) CTGTGTTTTTCCTGGCTTGAT 0.433000 22 7 0 0 0.003080 0 0 PLCB1 23236 broad.mit.edu 37 20 8769119 8769119 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:8769119C>T uc002wnb.3 + 27 3138 c.3135C>T c.(3133-3135)gtC>gtT p.V1045V PLCB1_uc010zrb.1_Silent_p.V944V|PLCB1_uc002wna.3_Silent_p.V1045V|PLCB1_uc002wnc.1_Silent_p.V944V|PLCB1_uc002wnd.1_Silent_p.V622V NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 1045 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGACGGATGTCGCAGAAGAGT 0.383000 9 9 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179457984 179457984 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179457984C>T uc021vsy.1 - 247 51472 c.51247G>A c.(51247-51249)Gaa>Aaa p.E17083K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10778K|TTN_uc021vta.1_Missense_Mutation_p.E10711K|TTN_uc021vtb.1_Missense_Mutation_p.E10586K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18010 Ig-like 102. 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) ACCCGGAATTCATACTGACAT 0.388000 69 27 0 0 0.005443 0 0 COL5A3 50509 broad.mit.edu 37 19 10106767 10106767 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:10106767C>T uc002mmq.1 - 14 1594 c.1508G>A c.(1507-1509)gGa>gAa p.G503E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 503 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.G503E(2) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCCCTCCTCTCCTTTCAGACC 0.577000 85 20 0 0 0.001523 0 0 PLXNA1 5361 broad.mit.edu 37 3 126730864 126730864 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:126730864A>C uc003ejg.3 + 8 2176 c.2176A>C c.(2176-2178)Acc>Ccc p.T726P NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 726 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.T703P(2) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AAAACCCATCACCCTGGCCGC 0.652000 31 7 0 0 0.000978 0 0 abParts 0 broad.mit.edu 37 14 106963032 106963032 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:106963032G>A uc021ser.1 - 268 c.10698C>T Parts of antibodies, mostly variable regions. ACTCTGTCCTGGAATTTCTGT 0.542000 64 66 0 0 0.003610 0 0 MCMDC2 157777 broad.mit.edu 37 8 67796106 67796106 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:67796106G>A uc003xwz.4 + 8 1121 c.950G>A c.(949-951)gGg>gAg p.G317E MCMDC2_uc003xwv.3_Missense_Mutation_p.G317E|MCMDC2_uc011lev.2_Missense_Mutation_p.G317E|MCMDC2_uc011lew.2_Missense_Mutation_p.G248E|MCMDC2_uc011lex.2_Missense_Mutation_p.G75E|MCMDC2_uc003xwy.4_Missense_Mutation_p.G317E NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA. 317 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 ACCCCTCCTGGGACTTACAAT 0.408000 21 26 0 0 0.007291 0 0 CCDC114 93233 broad.mit.edu 37 19 48801296 48801296 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:48801296A>C uc002pir.2 - 11 2035 c.1352T>G c.(1351-1353)cTt>cGt p.L451R CCDC114_uc002piq.2_Missense_Mutation_p.L260R|CCDC114_uc002pio.3_Missense_Mutation_p.L488R|CCDC114_uc002pis.1_Missense_Mutation_p.L131R NM_144577 NP_653178 Q96M63 CC114_HUMAN Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA. 451 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CTTCTTCGGAAGGTCCTCCAG 0.677000 23 6 0 0 0.001984 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142162 133142163 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:133142162_133142163CC>TT uc003ytj.3 - 14 2190_2191 c.1965_1966GG>AA c.(1963-1968)acggag>acAAag p.E656K KCNQ3_uc003yti.3_Missense_Mutation_p.E536K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E644K NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 656 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.E656K(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGGTAATACTCCGTGACCTGCA 0.500000 64 23 0 0 0.004672 0 0 SMAD2 4087 broad.mit.edu 37 18 45395780 45395780 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:45395780G>A uc002lcy.3 - 3 602 c.354C>T c.(352-354)tcC>tcT p.S118S SMAD2_uc002lcz.3_Silent_p.S118S|SMAD2_uc010xdc.2_Silent_p.S88S|SMAD2_uc010xdd.1_Silent_p.S88S NM_005901 NP_005892 Q15796 SMAD2_HUMAN Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA. 118 MH1. SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 CTTTTCGATGGGATACCTGGA 0.418000 5 16 0 0 0.004990 0 0 APIP 51074 broad.mit.edu 37 11 34909908 34909909 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:34909908_34909909CC>TT uc010reo.1 - 5 595_596 c.443_444GG>AA c.(442-444)cgg>cAA p.R148Q APIP_uc001mvs.2_Missense_Mutation_p.R131Q Q96GX9 MTNB_HUMAN Homo sapiens APAF1 interacting protein (APIP), mRNA. 131 L-methionine salvage|apoptosis cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) TTTTAAACTCCCGTCCTGGAAA 0.391000 44 39 0 0 0.004672 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85554410 85554410 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:85554410C>T uc001tac.3 + 23 4851 c.4740C>T c.(4738-4740)gcC>gcT p.A1580A NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 1580 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TGCGTCTAGCCTTATTCAAAA 0.353000 17 33 0 0 0.004289 0 0 SI 6476 broad.mit.edu 37 3 164737500 164737500 + Missense_Mutation SNP G A A rs138397431 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:164737500G>A uc003fei.3 - 27 3376 c.3313C>T c.(3313-3315)Cgc>Tgc p.R1105C NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1105 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.R1105C(2) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GATGGCAGGCGAGTCGATATT 0.383000 HNSCC(35;0.089) 37 27 0 0 0.008361 0 0 SEMA5B 54437 broad.mit.edu 37 3 122646731 122646731 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:122646731G>A uc003efz.1 - 7 1060 c.756C>T c.(754-756)gtC>gtT p.V252V SEMA5B_uc011bju.1_Silent_p.V194V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.V252V|SEMA5B_uc010hro.1_Silent_p.V194V|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 252 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) AGAAGTCGATGACCGTGGCTG 0.587000 27 23 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179399330 179399330 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179399330C>T uc021vsy.1 - 306 94533 c.94308G>A c.(94306-94308)ctG>ctA p.L31436L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L25131L|TTN_uc021vta.1_Silent_p.L25064L|TTN_uc021vtb.1_Silent_p.L24939L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32363 Fibronectin type-III 129. 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) GCACATATACCAGTGTTCCAA 0.438000 47 24 0 0 0.005443 0 0 PROS1 5627 broad.mit.edu 37 3 93611862 93611862 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:93611862C>T uc003drb.4 - 9 1411 c.1070G>A c.(1069-1071)gGa>gAa p.G357E PROS1_uc010hoo.3_Missense_Mutation_p.G226E|PROS1_uc003dqz.4_Missense_Mutation_p.G226E NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 357 Laminin G-like 1. G -> R (in PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTCAATCTTTCCACCACGAAG 0.403000 33 36 0 0 0.004289 0 0 FLNB 2317 broad.mit.edu 37 3 58135686 58135686 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:58135686G>A uc003djj.2 + 36 6366 c.6201G>A c.(6199-6201)ggG>ggA p.G2067G FLNB_uc010hne.2_Silent_p.G2098G|FLNB_uc003djk.2_Silent_p.G2056G|FLNB_uc010hnf.2_Silent_p.G2043G|FLNB_uc003djl.2_Silent_p.G1887G|FLNB_uc003djm.2_Silent_p.G1874G|FLNB_uc010hng.1_Non-coding_Transcript NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2067 Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCGTGCCTGGGGTTTATATCG 0.547000 68 60 0 0 0.003610 0 0 CASR 846 broad.mit.edu 37 3 121980560 121980560 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:121980560C>T uc003eew.4 + 3 1116 c.678C>T c.(676-678)ttC>ttT p.F226F CASR_uc003eev.4_Silent_p.F226F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 226 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTGAGAAATTCCGAGAGGAAG 0.522000 69 44 0 0 0.002522 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591657 70591657 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:70591657G>A uc003xyl.3 - 7 2687 c.1980C>T c.(1978-1980)ttC>ttT p.F660F SLCO5A1_uc010lzb.3_Silent_p.F605F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F660F NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 660 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATGCTGTGATGAAGGTGACTA 0.423000 69 18 0 0 0.007413 0 0 SLC12A3 6559 broad.mit.edu 37 16 56901088 56901088 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:56901088C>T uc002ekd.4 + 1 418 c.389C>T c.(388-390)cCc>cTc p.P130L SLC12A3_uc010ccm.3_Missense_Mutation_p.P130L|SLC12A3_uc010ccn.3_Missense_Mutation_p.P129L NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 130 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GAGAAGAACCCCGAGGAGCCA 0.657000 5 5 0 0 0.000602 0 0 PKP2 5318 broad.mit.edu 37 12 33030932 33030932 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:33030932G>A uc001rlj.4 - 2 997 c.882C>T c.(880-882)tcC>tcT p.S294S PKP2_uc001rlk.4_Silent_p.S294S|PKP2_uc010skj.2_Silent_p.S294S NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 294 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGCTGTGGAAGGAGCTCTGAT 0.687000 22 7 0 0 0.001984 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172563838 172563839 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:172563838_172563839CC>TT uc002uha.1 + 4 451_452 c.286_287CC>TT c.(286-288)cca>TTa p.P96L DYNC1I2_uc002uhb.1_Missense_Mutation_p.P90L|DYNC1I2_uc010zds.1_Missense_Mutation_p.P108L|DYNC1I2_uc002uhc.3_Missense_Mutation_p.P90L|DYNC1I2_uc002uhd.1_Missense_Mutation_p.P90L|DYNC1I2_uc002uhe.1_Missense_Mutation_p.P96L|DYNC1I2_uc002uhf.1_Missense_Mutation_p.P90L|DYNC1I2_uc010zdt.1_Missense_Mutation_p.P108L|DYNC1I2_uc002uhg.1_Missense_Mutation_p.P11L NM_001378 NP_001369 Q13409 DC1I2_HUMAN Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA. 96 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) TGTGAGCACTCCAAGTGAAGCT 0.450000 38 21 0 0 0.004672 0 0 GPR141 353345 broad.mit.edu 37 7 37780062 37780062 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:37780062C>T uc003tfm.1 + 0 67 c.67C>T c.(67-69)Ctc>Ttc p.L23F BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 23 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTAATCAGCCTCTACTTCAT 0.502000 65 53 0 0 0.003610 0 0 CES5A 221223 broad.mit.edu 37 16 55893542 55893542 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:55893542C>T uc021tir.1 - 8 1206 c.1060G>A c.(1060-1062)Gat>Aat p.D354N CES5A_uc002eip.2_Missense_Mutation_p.D325N|CES5A_uc002eio.2_Missense_Mutation_p.D325N|CES5A_uc002eiq.2_Missense_Mutation_p.D86N|CES5A_uc002eir.2_Missense_Mutation_p.D219N NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 325 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.K353K(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GACAATAGATCTAGAGGCTCA 0.398000 15 14 0 0 0.001855 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406388 38406388 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:38406388C>T uc001izk.3 + 7 1139 c.309C>T c.(307-309)ttC>ttT p.F103F ZNF37A_uc001izl.3_Silent_p.F103F|ZNF37A_uc001izm.3_Silent_p.F103F NM_001007094 NP_003412 P17032 ZN37A_HUMAN Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA. 103 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 GAAAATGTTTCTGTGATGAAA 0.318000 91 68 0 0 0.003610 0 0 SSH2 85464 broad.mit.edu 37 17 27958398 27958398 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:27958398G>A uc002heo.1 - 14 3733 c.3733C>T c.(3733-3735)Cag>Tag p.Q1245* SSH2_uc010wbh.1_Nonsense_Mutation_p.Q1272* NM_033389 NP_203747 Q76I76 SSH2_HUMAN Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA. 1245 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGCCCTGCCTGGAAAACCACT 0.512000 34 31 0 0 0.003271 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192468 132192468 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:132192468G>A uc003vra.4 - 1 1214 c.985C>T c.(985-987)Cat>Tat p.H329Y PLXNA4_uc003vrc.2_Missense_Mutation_p.H329Y|PLXNA4_uc003vrb.3_Missense_Mutation_p.H329Y NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 329 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 TCATCTGGATGGACTCCAAGG 0.592000 25 21 0 0 0.001882 0 0 INSRR 3645 broad.mit.edu 37 1 156821680 156821680 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:156821680C>T uc010pht.2 - 3 1240 c.941_splice c.e3+1 p.S314_splice NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Splice_Site_p.S314_splice NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 314 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 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) CTACACTCACCTGCTGCTATT 0.647000 11 3 0 0 0.000248 0 0 CRB1 23418 broad.mit.edu 37 1 197407739 197407739 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:197407739G>A uc001gtz.3 + 9 4021 c.3812G>A c.(3811-3813)gGa>gAa p.G1271E CRB1_uc010poz.2_Missense_Mutation_p.G1247E|CRB1_uc009wza.3_Missense_Mutation_p.G1159E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G735E|CRB1_uc010ppd.2_Missense_Mutation_p.G752E|CRB1_uc001gub.1_Missense_Mutation_p.G920E NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1271 EGF-like 18. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGCTACAATGGAGGCAACTGC 0.443000 34 35 0 0 0.003271 0 0 WIPI2 26100 broad.mit.edu 37 7 5254224 5254224 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:5254224C>T uc003snv.3 + 3 486 c.270C>T c.(268-270)atC>atT p.I90I WIPI2_uc003snw.3_Silent_p.I90I|WIPI2_uc003snx.3_Silent_p.I72I|WIPI2_uc003sny.3_Silent_p.I72I|WIPI2_uc010ksv.3_5'UTR|WIPI2_uc003snz.3_Silent_p.I31I|WIPI2_uc003soa.3_Silent_p.I31I NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA. 90 autophagic vacuole assembly PAS complex|cytosol|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TAGTGGCCATCGTCAGCCTTA 0.473000 58 19 0 0 0.008871 0 0 OVCH2 341277 broad.mit.edu 37 11 7720302 7720302 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:7720302G>A uc010rbf.2 - 7 920 c.920C>T c.(919-921)tCc>tTc p.S307F NM_198185 NP_937828 Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA. cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) CCCACCTCTGGAGCTCTTTCT 0.468000 8 8 0 0 0.008291 0 0 LACRT 90070 broad.mit.edu 37 12 55025624 55025624 + Splice_Site SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:55025624C>G uc001sgi.1 - 4 292 c.254_splice c.e4-1 p.K85_splice NM_033277 NP_150593 Q9GZZ8 LACRT_HUMAN Homo sapiens lacritin (LACRT), mRNA. 85 calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 ACTATGGATTCTAATTTTGGA 0.478000 45 26 0 0 0.004656 0 0 C1orf105 92346 broad.mit.edu 37 1 172417667 172417667 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:172417667C>T uc001gik.3 + 2 392 c.194C>T c.(193-195)tCt>tTt p.S65F NM_139240 NP_640333 O95561 CA105_HUMAN Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA. 65 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 GATGTTTTATCTAAGGTACTA 0.338000 31 33 0 0 0.001786 0 0 USP45 85015 broad.mit.edu 37 6 99894322 99894322 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:99894322G>A uc003ppx.2 - 13 1859 c.1326C>T c.(1324-1326)gaC>gaT p.D442D USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Silent_p.D122D NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA. 442 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.D442D(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TACATTTTCGGTCATGAATTA 0.323000 20 26 0 0 0.003954 0 0 PSME4 23198 broad.mit.edu 37 2 54175661 54175661 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:54175661G>A uc002rxp.2 - 2 453 c.397C>T c.(397-399)Ctt>Ttt p.L133F PSME4_uc010yop.1_Missense_Mutation_p.L19F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.L133F NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 133 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTCTTGAAAGAAGTTCCTTT 0.348000 68 24 0 0 0.008361 0 0 C7 730 broad.mit.edu 37 5 40958352 40958353 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:40958352_40958353GG>AA uc003jmh.3 + 10 1592_1593 c.1478_1479GG>AA c.(1477-1479)ggg>gAA p.G493E C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 493 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTCCTCGTAGGGAATCAAGCAG 0.485000 23 5 0 0 0.004672 0 0 OR2A25 392138 broad.mit.edu 37 7 143771481 143771481 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:143771481C>T uc011ktx.2 + 0 169 c.169C>T c.(169-171)Ccc>Tcc p.P57S NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T56T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ACTCCACACCCCCATGTACTT 0.577000 18 27 0 0 0.007291 0 0 FCGR3A 2214 broad.mit.edu 37 1 161514491 161514491 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:161514491C>T uc001gar.3 - 4 869 c.685_splice c.e4+1 p.G229_splice FCGR3A_uc001gas.3_Splice_Site_p.G228_splice|FCGR3A_uc001gat.4_Splice_Site_p.G193_splice|FCGR3A_uc009wuh.3_Splice_Site_p.G192_splice|FCGR3A_uc009wui.3_Splice_Site_p.G193_splice NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 193 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATGTCTCACCTTGAGTGATG 0.507000 25 13 0 0 0.006122 0 0 FBXO40 51725 broad.mit.edu 37 3 121341642 121341642 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:121341642C>T uc003eeg.2 + 2 1576 c.1366C>T c.(1366-1368)Cac>Tac p.H456Y NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 456 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGGGGGACTCCACGTGGAGCT 0.522000 29 5 0 0 0.001168 0 0 MMRN1 22915 broad.mit.edu 37 4 90857467 90857467 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:90857467C>T uc003hst.3 + 5 2707 c.2636C>T c.(2635-2637)tCa>tTa p.S879L MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.S621L NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 879 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TATTATATTTCAGTTAAAAAA 0.353000 22 15 0 0 0.004990 0 0 FARSB 10056 broad.mit.edu 37 2 223484389 223484389 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:223484389C>T uc010zlq.1 - 14 1414 c.1379G>A c.(1378-1380)aGt>aAt p.S460N FARSB_uc002vne.1_Missense_Mutation_p.S440N|FARSB_uc002vnf.1_Missense_Mutation_p.S341N NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA. 440 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTTAGGATTACTTATGTGGAC 0.363000 25 5 0 0 0.001984 0 0 POLH 5429 broad.mit.edu 37 6 43578327 43578327 + Missense_Mutation SNP C T T rs147564503 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:43578327C>T uc003ovq.4 + 9 1415 c.1111C>T c.(1111-1113)Cgt>Tgt p.R371C POLH_uc010jyu.2_Missense_Mutation_p.R247C|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Missense_Mutation_p.R272C NM_006502 NP_006493 Q9Y253 POLH_HUMAN Homo sapiens polymerase (DNA directed), eta (POLH), mRNA. 371 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TGTGAGCATTCGTGTACAAGG 0.502000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 36 6 0 0 0.001984 0 0 CLN3 1201 broad.mit.edu 37 16 28488892 28488892 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:28488892G>A uc002dpo.3 - 14 1585 c.1262C>T c.(1261-1263)tCc>tTc p.S421F NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.S343F|CLN3_uc002dpm.3_Missense_Mutation_p.S367F|CLN3_uc010vcu.2_Missense_Mutation_p.S321F|CLN3_uc010vcv.2_Missense_Mutation_p.S397F|CLN3_uc002dpp.3_Missense_Mutation_p.S421F|CLN3_uc021tfs.1_Missense_Mutation_p.S268F|CLN3_uc002dpt.1_Missense_Mutation_p.S321F|CLN3_uc002dpq.1_Missense_Mutation_p.S373F|CLN3_uc010bye.1_Missense_Mutation_p.S404F|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.S294F|CLN3_uc002dpu.1_Missense_Mutation_p.S319F NM_000086 NP_001035897 Q13286 CLN3_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. 421 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 CCCCGACAGGGAGATCCCCAG 0.607000 30 24 0 0 0.003330 0 0 KNDC1 85442 broad.mit.edu 37 10 135011270 135011270 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:135011270C>A uc001llz.1 + 11 1905 c.1904C>A c.(1903-1905)cCa>cAa p.P635Q KNDC1_uc001lma.1_Missense_Mutation_p.P570Q|KNDC1_uc001lmb.1_Missense_Mutation_p.P47Q NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 635 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGCCCAGCCCAGGTGGGGAC 0.647000 11 28 3.65163e-15 5.05287e-15 0.006320 1 0 MCAM 4162 broad.mit.edu 37 11 119182819 119182819 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:119182819G>A uc001pwf.3 - 8 1115 c.1086C>T c.(1084-1086)acC>acT p.T362T MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA. 362 Ig-like C2-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CACAGGTCAGGGTGAGGCTGC 0.637000 1 13 0 0 0.001855 0 0 PRX 57716 broad.mit.edu 37 19 40903633 40903633 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:40903633G>A uc002onr.3 - 6 895 c.626C>T c.(625-627)gCc>gTc p.A209V PRX_uc002onq.3_Missense_Mutation_p.A70V|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 209 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGAGCGGCGGCGGCCAGCCG 0.716000 0 7 0 0 0.004482 0 0 CHD2 1106 broad.mit.edu 37 15 93486111 93486111 + Missense_Mutation SNP A T T rs145479816 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:93486111A>T uc002bsp.3 + 8 1440 c.865A>T c.(865-867)Aat>Tat p.N289Y CHD2_uc002bsm.2_Missense_Mutation_p.N289Y|CHD2_uc002bsn.3_Missense_Mutation_p.N289Y|CHD2_uc002bso.1_Missense_Mutation_p.N289Y|CHD2_uc010urb.2_Missense_Mutation_p.N302Y|CHD2_uc010bof.1_Non-coding_Transcript NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 289 Chromo 1. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.N289Y(2) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GATTGAAGCTAATGGCGACCC 0.428000 29 16 0 0 0.006122 0 0 NR5A2 2494 broad.mit.edu 37 1 200080397 200080397 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:200080397G>A uc001gvb.3 + 5 1384 c.1178G>A c.(1177-1179)cGa>cAa p.R393Q NR5A2_uc001gvc.3_Missense_Mutation_p.R347Q|NR5A2_uc009wzh.3_Missense_Mutation_p.R353Q|NR5A2_uc010pph.2_Missense_Mutation_p.R321Q NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 393 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CACATTTACCGACAAGTGGTA 0.383000 20 27 0 0 0.002096 0 0 PLIN1 5346 broad.mit.edu 37 15 90210242 90210242 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:90210242C>T uc010upx.1 - 7 1244 c.1134G>A c.(1132-1134)ggG>ggA p.G378G PLIN1_uc002boh.2_Silent_p.G378G NM_001145311 NP_002657 O60240 PLIN1_HUMAN Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA. 378 triglyceride catabolic process lipid particle lipid binding p.G378G(2) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 ACATGGCCCTCCCCTTGGTTG 0.612000 19 5 0 0 0.000602 0 0 CSMD1 64478 broad.mit.edu 37 8 2815238 2815238 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:2815238C>T uc022aqr.1 - 62 10184 c.9794G>A c.(9793-9795)gGg>gAg p.G3265E CSMD1_uc011kwj.2_Missense_Mutation_p.G2595E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1157E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3266 Sushi 27. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTCTGTATCCCACTCCATGT 0.448000 10 6 0 0 0.004482 0 0 DPP6 1804 broad.mit.edu 37 7 154561253 154561253 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:154561253C>T uc003wlk.3 + 8 1139 c.1010C>T c.(1009-1011)cCc>cTc p.P337L DPP6_uc003wli.3_Missense_Mutation_p.P273L|DPP6_uc003wlm.3_Missense_Mutation_p.P275L|DPP6_uc011kvq.2_Missense_Mutation_p.P230L NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 337 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCCATCTACCCCACCGTGAAG 0.547000 13 9 0 0 0.004482 0 0 GPR98 84059 broad.mit.edu 37 5 90055296 90055296 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:90055296C>T uc003kju.3 + 57 12107 c.12011C>T c.(12010-12012)tCc>tTc p.S4004F GPR98_uc003kjt.3_Missense_Mutation_p.S1710F|GPR98_uc003kjv.3_Missense_Mutation_p.S1604F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4004 Calx-beta 26. 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) TTCAATATTTCCTTGATCAGT 0.373000 13 5 0 0 0.000602 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331320 100331320 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:100331320G>A uc021sxl.1 - 1 c.1833C>T DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GTGCTCACTGGGATTTTGCTC 0.577000 39 10 0 0 0.000978 0 0 RP1 6101 broad.mit.edu 37 8 55540061 55540061 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:55540061G>A uc003xsd.1 + 3 3767 c.3619G>A c.(3619-3621)Gat>Aat p.D1207N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1207 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGTTCCAATAGATCTTTCTGC 0.428000 47 42 0 0 0.006230 0 0 SCAND3 114821 broad.mit.edu 37 6 28554089 28554089 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:28554089C>T uc003nlo.3 - 0 1024 c.406G>A c.(406-408)Gaa>Aaa p.E136K AK056211_uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 136 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 TGTCTAGGTTCATCAAGCTCC 0.517000 204 38 0 0 0.002522 0 0 SLIT3 6586 broad.mit.edu 37 5 168096985 168096985 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:168096985C>T uc010jjg.3 - 34 4580 c.4160G>A c.(4159-4161)gGa>gAa p.G1387E SLIT3_uc003mab.3_Missense_Mutation_p.G1380E NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1380 EGF-like 8. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACACATTTTCCATGGTGGCA 0.567000 10 6 0 0 0.001984 0 0 DPPA4 55211 broad.mit.edu 37 3 109052816 109052816 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:109052816C>T uc003dxq.4 - 1 134 c.79G>A c.(79-81)Gaa>Aaa p.E27K DPPA4_uc011bho.2_Missense_Mutation_p.E27K|DPPA4_uc011bhp.1_Missense_Mutation_p.E27K NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 27 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TGATCCTCTTCCCTCGACTTC 0.458000 24 18 0 0 0.007413 0 0 MUC17 140453 broad.mit.edu 37 7 100682048 100682048 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100682048C>T uc003uxp.1 + 2 7404 c.7351C>T c.(7351-7353)Cct>Tct p.P2451S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2451 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACCTCACCTCCTAGTGAAGG 0.532000 275 96 0 0 0.003610 0 0 ADAD2 161931 broad.mit.edu 37 16 84224962 84224962 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:84224962C>T uc002fhq.2 + 0 240 c.126C>T c.(124-126)gcC>gcT p.A42A ADAD2_uc002fhr.2_Silent_p.A42A NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 42 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CCCAAAGTGCCTgggggcccg 0.751000 5 3 0 0 0.000248 0 0 CNTN3 5067 broad.mit.edu 37 3 74383907 74383907 + Silent SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:74383907A>C uc003dpm.1 - 11 1727 c.1647T>G c.(1645-1647)tcT>tcG p.S549S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 549 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCTCAAAGTGAGATCCATCTT 0.428000 24 23 0 0 0.005443 0 0 TNFRSF8 943 broad.mit.edu 37 1 12170215 12170215 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:12170215G>A uc001atq.3 + 5 852 c.630G>A c.(628-630)agG>agA p.R210R TNFRSF8_uc010obc.2_Silent_p.R99R NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 210 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AACTGACGAGGGCTCCCGACT 0.617000 16 7 0 0 0.003080 0 0 SYNE2 23224 broad.mit.edu 37 14 64450546 64450546 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:64450546T>A uc001xgl.3 + 17 2323 c.2093T>A c.(2092-2094)gTt>gAt p.V698D SYNE2_uc001xgm.3_Missense_Mutation_p.V698D|SYNE2_uc021ruh.1_Missense_Mutation_p.V698D NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 698 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAGCAACTGTTGAGTTTTCA 0.294000 13 15 0 0 0.002450 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82369428 82369428 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:82369428C>T uc003hmi.1 - 4 593 c.449G>A c.(448-450)aGa>aAa p.R150K RASGEF1B_uc003hmj.1_Missense_Mutation_p.R149K|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R108K NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA. 150 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 GACATTCTTTCTGTATGTCTG 0.463000 54 19 0 0 0.008871 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54537588 54537588 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:54537588G>A uc003dhf.3 + 4 499 c.451G>A c.(451-453)Gaa>Aaa p.E151K CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E57K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 151 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GCTGGGAAAGGAATTCATCTT 0.373000 46 51 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152280391 152280391 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152280391G>A uc001ezu.1 - 2 7007 c.6971C>T c.(6970-6972)tCa>tTa p.S2324L NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2324 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGCACTTGATCTTGCCTG 0.552000 Ichthyosis 86 158 0 0 0.003610 0 0 ADD2 119 broad.mit.edu 37 2 70906069 70906069 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:70906069G>A uc021vjc.1 - 10 1415 c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.R384C|ADD2_uc002sgz.3_Missense_Mutation_p.R384C|ADD2_uc010fdt.2_Missense_Mutation_p.R384C|ADD2_uc002shc.2_Missense_Mutation_p.R384C|ADD2_uc010fdu.2_Missense_Mutation_p.R400C NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 384 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding p.R384G(3)|p.R400G(1) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 AAGGGGTGGCGATACGTGTAA 0.498000 44 18 0 0 0.001882 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376964 138376964 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:138376964G>A uc022bpi.1 + 0 608 c.608G>A c.(607-609)gGa>gAa p.G203E PPP1R26_uc004cfr.1_Missense_Mutation_p.G203E NM_014811 NP_055626 Q5T8A7 K0649_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA. 203 nucleolus protein binding AGCCAGGTGGGATCCAGCAAG 0.607000 29 25 0 0 0.003954 0 0 CHD8 57680 broad.mit.edu 37 14 21870115 21870115 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:21870115C>T uc001war.2 - 19 4127 c.4062_splice c.e19+1 p.K1354_splice CHD8_uc001was.2_Splice_Site_p.K1075_splice|CHD8_uc001wav.1_Splice_Site_p.K517_splice NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 1354 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACAGAACATGCCTTAGCAAAG 0.423000 94 27 0 0 0.007291 0 0 MARCH2 51257 broad.mit.edu 37 19 8495677 8495677 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:8495677C>T uc002mjv.3 + 4 949 c.508C>T c.(508-510)Cac>Tac p.H170Y MARCH2_uc002mjw.3_Missense_Mutation_p.H170Y|MARCH2_uc002mjx.3_Intron NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA. 170 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 CCTCCGGCTCCACAGCCAGCT 0.632000 10 15 0 0 0.002450 0 0 TMEM132E 124842 broad.mit.edu 37 17 32962035 32962035 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:32962035G>A uc002hif.3 + 7 1964 c.1636G>A c.(1636-1638)Gat>Aat p.D546N NM_207313 NP_997196 Q6IEE7 T132E_HUMAN Homo sapiens transmembrane protein 132E (TMEM132E), mRNA. 546 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCGGGTGGGCGATCCCCGAGT 0.617000 13 14 0 0 0.001855 0 0 NUP210L 91181 broad.mit.edu 37 1 154042924 154042924 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:154042924C>T uc001fdw.3 - 16 2451 c.2379G>A c.(2377-2379)ctG>ctA p.L793L NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.L793L NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 793 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTGTGTCCCTCAGTCTTGATA 0.338000 24 14 0 0 0.001855 0 0 TOP1 7150 broad.mit.edu 37 20 39708772 39708772 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:39708772C>T uc002xjl.3 + 5 629 c.383C>T c.(382-384)cCt>cTt p.P128L TOP1_uc010gge.1_Non-coding_Transcript NM_003286 NP_003277 P11387 TOP1_HUMAN Homo sapiens topoisomerase (DNA) I (TOP1), mRNA. 128 Lys-rich. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding p.P128T(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TATTTTGTTCCTCCTAAAGAG 0.338000 T NUP98 AML* 52 10 0 0 0.001855 0 0 RGS22 26166 broad.mit.edu 37 8 101014555 101014555 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:101014555G>A uc003yjb.1 - 17 2860 c.2665C>T c.(2665-2667)Cgg>Tgg p.R889W RGS22_uc003yja.1_Missense_Mutation_p.R708W|RGS22_uc003yjc.1_Missense_Mutation_p.R877W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R278W|SNORD77_uc022azg.1_5'Flank NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 889 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GTTATTCTCCGGAACTGCTCA 0.318000 29 20 0 0 0.002780 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118385531 118385532 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:118385531_118385532CC>TT uc001lcq.3 + 4 302_303 c.279_280CC>TT c.(277-282)atccat>atTTat p.H94Y PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript NM_005396 NP_005387 P54317 LIPR2_HUMAN Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA. 94 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GCTTCATCATCCATGGCTTCTT 0.505000 17 5 0 0 0.004672 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711932 140711932 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140711932G>A uc003lji.2 + 0 1681 c.1681G>A c.(1681-1683)Gag>Aag p.E561K PCDHGC5_uc011dan.2_Missense_Mutation_p.E561K NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 563 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGCGCCCGAGATCCTGTA 0.647000 24 58 0 0 0.003610 0 0 MACF1 23499 broad.mit.edu 37 1 39926444 39926444 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:39926444T>A uc021olw.1 + 56 16830 c.16830T>A c.(16828-16830)ttT>ttA p.F5610L MACF1_uc021ols.1_Missense_Mutation_p.F5105L|MACF1_uc021olt.1_Missense_Mutation_p.F5108L|MACF1_uc001cde.2_5'Flank NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 7066 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTCAGGAGTTTATCGATGGCA 0.423000 29 70 0 0 0.003610 0 0 XPC 7508 broad.mit.edu 37 3 14200020 14200020 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:14200020G>A uc011ave.2 - 8 1467 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S XPC_uc011avf.2_Missense_Mutation_p.P262S|XPC_uc011avg.2_Missense_Mutation_p.P418S|XPC_uc021wtl.1_5'Flank|XPC_uc021wtm.1_5'UTR NM_004628 NP_004619 Q01831 XPC_HUMAN Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA. 455 Asp/Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal XPC complex|cytoplasm|nucleoplasm bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCATCAGAGGGATCAGAGGCT 0.597000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 34 12 0 0 0.000978 0 0 COLEC10 10584 broad.mit.edu 37 8 120118306 120118306 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:120118306G>A uc003yoo.3 + 5 807 c.710G>A c.(709-711)gGg>gAg p.G237E NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA. 237 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TGGAATGAGGGGGAACCCAGC 0.498000 36 13 0 0 0.001855 0 0 RBMX 27316 broad.mit.edu 37 X 135957686 135957687 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:135957686_135957687GG>AA uc004fae.2 - 5 809_810 c.599_600CC>TT c.(598-600)ccc>cTT p.P200L RBMX_uc011mwf.1_Missense_Mutation_p.P92F|RBMX_uc004fad.1_Missense_Mutation_p.P200L|RBMX_uc011mwg.2_Missense_Mutation_p.P161L|RBMX_uc004faf.2_Missense_Mutation_p.P61L NM_002139 NP_002130 P38159 HNRPG_HUMAN Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA. 200 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CTCTACGAGAGGGCAGCGGTTC 0.371000 0 46 0 0 0.004672 0 0 FAM5C 339479 broad.mit.edu 37 1 190067368 190067368 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:190067368C>T uc001gse.1 - 7 2313 c.2081G>A c.(2080-2082)gGa>gAa p.G694E FAM5C_uc010pot.1_Missense_Mutation_p.G592E NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 694 extracellular region p.Q693H(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) ATCCTGGGATCCCTGAGTATA 0.453000 29 29 0 0 0.005443 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463580 241463580 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:241463580G>A uc010fzd.1 - 7 1679 c.1554C>T c.(1552-1554)agC>agT p.S518S ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.S288S|ANKMY1_uc002vyz.1_Silent_p.S429S|ANKMY1_uc002vza.1_Silent_p.S288S|ANKMY1_uc002vzd.1_Silent_p.S288S|ANKMY1_uc010fze.2_Silent_p.S98S|ANKMY1_uc002vze.3_Silent_p.S190S NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 429 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CCTTCAGAGAGCTGCTCCTGT 0.652000 13 16 0 0 0.004007 0 0 ZNF33A 7581 broad.mit.edu 37 10 38306296 38306296 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:38306296C>T uc010qev.2 + 2 357 c.253C>T c.(253-255)Cca>Tca p.P85S ZNF33A_uc001izg.3_Missense_Mutation_p.P78S|ZNF33A_uc001izh.3_Missense_Mutation_p.P78S|ZNF33A_uc001izi.1_Missense_Mutation_p.P78S|ZNF33A_uc021ppe.1_Missense_Mutation_p.P78S|ZNF33A_uc001izj.3_Non-coding_Transcript NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 78 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GGAAGAATTCCCAAGCCAAAG 0.428000 86 30 0 0 0.002836 0 0 TNXB 7148 broad.mit.edu 37 6 32037466 32037466 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:32037466G>A uc003nzl.2 - 14 5653 c.5451C>T c.(5449-5451)ccC>ccT p.P1817P NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1899 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCACCACCTGGGGCTGCCCGT 0.657000 153 38 0 0 0.004289 0 0 SMG7 9887 broad.mit.edu 37 1 183514306 183514307 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:183514306_183514307CC>TT uc001gqg.3 + 15 2479_2480 c.2229_2230CC>TT c.(2227-2232)cccctt>ccTTtt p.L744F SMG7_uc010pob.2_Missense_Mutation_p.L727F|SMG7_uc021pga.1_Missense_Mutation_p.L656F|SMG7_uc001gqf.3_Missense_Mutation_p.L698F|SMG7_uc001gqh.3_Missense_Mutation_p.L698F|SMG7_uc010poc.2_Missense_Mutation_p.L702F NM_173156 NP_775179 Q92540 SMG7_HUMAN Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA. 744 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CCCAGCAACCCCTTACATCTTT 0.545000 70 9 0 0 0.004672 0 0 OR10J3 441911 broad.mit.edu 37 1 159283706 159283706 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:159283706C>T uc010piu.2 - 0 744 c.744G>A c.(742-744)gtG>gtA p.V248V NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T247R(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGATGATGACCACTGTGAGGT 0.512000 53 9 0 0 0.006214 0 0 OR4K5 79317 broad.mit.edu 37 14 20388834 20388835 + Nonsense_Mutation DNP CC TT TT rs144511665 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20388834_20388835CC>TT uc010tkw.2 + 0 69_70 c.69_70CC>TT c.(67-72)ctccag>ctTTag p.Q24* NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 24 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) CTCAAAAACTCCAGCTTTTCTA 0.406000 83 13 0 0 0.004672 0 0 NR2E3 10002 broad.mit.edu 37 15 72109899 72109899 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:72109899G>A uc002ati.3 + 8 1297 c.1107G>A c.(1105-1107)ggG>ggA p.G369G NM_014249 NP_055064 Q9Y5X4 NR2E3_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. 369 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 TCAGGTTTGGGAAATTGCTCC 0.552000 62 47 0 0 0.003610 0 0 FOXK1 221937 broad.mit.edu 37 7 4794116 4794116 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:4794116C>T uc003snc.1 + 2 783 c.773C>T c.(772-774)cCa>cTa p.P258L FOXK1_uc003sna.1_Missense_Mutation_p.P95L|FOXK1_uc003snb.1_Missense_Mutation_p.P258L NM_001037165 NP_001032242 P85037 FOXK1_HUMAN Homo sapiens forkhead box K1 (FOXK1), mRNA. 258 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCAGCCAGTCCACGCGGTGCC 0.627000 18 12 0 0 0.001855 0 0 DVL1 1855 broad.mit.edu 37 1 1275130 1275130 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:1275130G>A uc001aer.4 - 8 1019 c.972C>T c.(970-972)atC>atT p.I324I DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Silent_p.I41I|DVL1_uc001aeu.1_Missense_Mutation_p.S11L NM_004421 NP_004412 O14640 DVL1_HUMAN Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA. 324 Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCTGGGAAACGATCTCCCGCA 0.642000 9 4 0 0 0.000248 0 0 ATP8B2 57198 broad.mit.edu 37 1 154315294 154315295 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:154315294_154315295CC>TT uc001fex.3 + 14 1409_1410 c.1409_1410CC>TT c.(1408-1410)tcc>tTT p.S470F NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 456 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTTGACTTCTCCTTCAATCCTC 0.559000 61 15 0 0 0.004672 0 0 PARP10 84875 broad.mit.edu 37 8 145058972 145058973 + Silent DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:145058972_145058973GG>AA uc003zal.4 - 4 1305_1306 c.1197_1198CC>TT c.(1195-1200)ggcctg>ggTTtg p.399_400GL>GL PARP10_uc003zak.4_Silent_p.105_106GL>GL|PARP10_uc011lku.2_Silent_p.411_412GL>GL|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.399_400GL>GL|PARP10_uc010mfn.1_Silent_p.314_315GL>GL|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA. 399 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATTTCCACCAGGCCCTCCTGCC 0.653000 33 38 0 0 0.004672 0 0 SLC6A19 340024 broad.mit.edu 37 5 1216728 1216728 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:1216728G>A uc003jbw.4 + 6 999 c.943G>A c.(943-945)Gtg>Atg p.V315M NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 315 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.S314S(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTTCACATCGGTGTATGTGGC 0.587000 27 5 0 0 0.000602 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080748 148080748 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:148080748G>A uc003weu.2 + 21 3999 c.3483G>A c.(3481-3483)ggG>ggA p.G1161G CNTNAP2_uc003wev.2_5'UTR NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 1161 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TAGAAACAGGGAAAATTGACC 0.433000 HNSCC(39;0.1) 28 26 0 0 0.005443 0 0 PARP10 84875 broad.mit.edu 37 8 145059330 145059331 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:145059330_145059331GG>AA uc003zal.4 - 4 947_948 c.839_840CC>TT c.(838-840)acc>aTT p.T280I PARP10_uc003zak.4_5'UTR|PARP10_uc011lku.2_Missense_Mutation_p.T292I|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.T280I|PARP10_uc010mfn.1_Missense_Mutation_p.T195I|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA. 280 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAACCCTCCGGTCCTCAGGAG 0.649000 27 21 0 0 0.004672 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136405 40136405 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:40136405G>A uc021qgf.1 - 0 1438 c.1438C>T c.(1438-1440)Cca>Tca p.P480S LRRC4C_uc001mxc.1_Missense_Mutation_p.P476S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P476S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P480S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P476S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 480 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCGACCACTGGAGTGGGACCC 0.498000 10 15 0 0 0.003163 0 0 VRTN 55237 broad.mit.edu 37 14 74825503 74825503 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:74825503G>A uc021rwl.1 + 0 2017 c.2017G>A c.(2017-2019)Gag>Aag p.E673K VRTN_uc001xpw.4_Missense_Mutation_p.E673K NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 673 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CTCCTACAAGGAGTTCAGTGC 0.567000 19 29 0 0 0.001786 0 0 CRNN 49860 broad.mit.edu 37 1 152382338 152382338 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152382338C>T uc001ezx.2 - 2 1294 c.1220G>A c.(1219-1221)gGg>gAg p.G407E NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 407 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.G407W(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGCTTGCCCCAGTCTGGGC 0.612000 33 22 0 0 0.001523 0 0 CHST2 9435 broad.mit.edu 37 3 142840860 142840860 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:142840860G>T uc003evm.3 + 1 2141 c.1202G>T c.(1201-1203)aGt>aTt p.S401I CHST2_uc021xex.1_Missense_Mutation_p.S401I NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA. 401 N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 ATCTGCAATAGTATGGCTAAG 0.652000 27 20 2.70639e-06 3.71928e-06 0.002299 1 0 DDX3Y 8653 broad.mit.edu 37 Y 15027838 15027838 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrY:15027838T>C uc004fsu.1 + 12 1517 c.1208T>C c.(1207-1209)gTa>gCa p.V403A DDX3Y_uc004fsv.2_Missense_Mutation_p.V403A|DDX3Y_uc010nww.1_Missense_Mutation_p.V219A|DDX3Y_uc011nar.1_Missense_Mutation_p.V400A NM_001122665 NP_004651 O15523 DDX3Y_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA. 403 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 TTTTTGGCTGTAGGCAGAGTA 0.363000 2 66 0 0 0.003610 0 0 PNLDC1 154197 broad.mit.edu 37 6 160229840 160229840 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:160229840G>A uc003qsy.1 + 7 670 c.631G>A c.(631-633)Gat>Aat p.D211N PNLDC1_uc003qsx.1_Missense_Mutation_p.D200N NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA. 200 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GGTGCTGAAAGATGAGGGGGT 0.547000 6 8 0 0 0.004482 0 0 GZMM 3004 broad.mit.edu 37 19 547286 547286 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:547286C>T uc002low.1 + 1 107 c.62C>T c.(61-63)tCc>tTc p.S21F NM_005317 NP_005308 P51124 GRAM_HUMAN Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA. 21 apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGCAGCTCCTTTGGGACC 0.662000 16 21 0 0 0.002780 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057422 5057422 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:5057422G>A uc002cye.2 + 12 1687 c.1507G>A c.(1507-1509)Gac>Aac p.D503N NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 503 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GGAGCACACGGACCAGCTGTG 0.642000 11 13 0 0 0.002450 0 0 KDM3B 51780 broad.mit.edu 37 5 137727375 137727375 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:137727375C>T uc003lcy.1 + 7 2254 c.2054C>T c.(2053-2055)tCt>tTt p.S685F KDM3B_uc010jew.1_Missense_Mutation_p.S341F|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 685 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GATTCGGCATCTTTAGCAAAG 0.537000 11 33 0 0 0.003271 0 0 CES1 1066 broad.mit.edu 37 16 55862792 55862792 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:55862792G>A uc002eim.3 - 1 252 c.144C>T c.(142-144)gcC>gcT p.A48A CES1_uc002eil.3_Silent_p.A49A|CES1_uc002ein.3_Silent_p.A48A NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 48 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CCAGGAAAATGGCCACAGGCT 0.572000 37 10 0 0 0.006214 0 0 RYR2 6262 broad.mit.edu 37 1 237880614 237880614 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:237880614C>T uc001hyl.1 + 71 10560 c.10440C>T c.(10438-10440)atC>atT p.I3480I RYR2_uc010pxz.1_Silent_p.I435I NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3480 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGTTGAACATCTGTGCCCCTG 0.498000 12 13 0 0 0.003163 0 0 SSR2 6746 broad.mit.edu 37 1 155989874 155989874 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:155989874G>A uc001fmx.3 - 1 165 c.85C>T c.(85-87)Ctg>Ttg p.L29L SSR2_uc010pgw.2_Silent_p.L48L NM_003145 NP_003136 P43308 SSRB_HUMAN Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA. 29 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CTGTTCAGCAGTGATTTGGAA 0.478000 32 22 0 0 0.003954 0 0 FUT9 10690 broad.mit.edu 37 6 96651444 96651444 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:96651444C>T uc003pop.4 + 2 754 c.413C>T c.(412-414)tCa>tTa p.S138L FUT9_uc021zcw.1_Missense_Mutation_p.S138L NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 138 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AATTTGGAATCACCAACTCAC 0.463000 30 10 0 0 0.008291 0 0 STK36 27148 broad.mit.edu 37 2 219540913 219540914 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:219540913_219540914CC>TT uc002viu.3 + 5 875_876 c.596_597CC>TT c.(595-597)ccc>cTT p.P199L STK36_uc002viv.3_Missense_Mutation_p.P199L NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 199 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGCACCCCTCCCTTCTATGCTA 0.520000 43 16 0 0 0.004672 0 0 OR51G2 81282 broad.mit.edu 37 11 4936765 4936765 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:4936765G>A uc001lzr.1 - 0 129 c.129C>T c.(127-129)tcC>tcT p.S43S NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCCGGGATGGAAACCAGAT 0.507000 39 12 0 0 0.001368 0 0 DBF4 10926 broad.mit.edu 37 7 87537442 87537442 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:87537442C>T uc003ujf.1 + 11 2493 c.1989C>T c.(1987-1989)ttC>ttT p.F663F DBF4_uc003ujh.1_Silent_p.F403F|DBF4_uc003ujg.1_Silent_p.F439F|DBF4_uc011khf.1_Silent_p.F430F NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA. 663 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) CAGCGTTTTTCTCGTCCCCTT 0.299000 31 13 0 0 0.002450 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64466461 64466461 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:64466461G>A uc003jtp.3 - 23 4041 c.3227C>T c.(3226-3228)cCc>cTc p.P1076L ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 1076 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ATTAGAAATGGGGGTACTGTC 0.498000 7 6 0 0 0.001168 0 0 CTNND2 1501 broad.mit.edu 37 5 11159866 11159866 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:11159866G>A uc003jfa.1 - 11 2126 c.1981C>T c.(1981-1983)Ctt>Ttt p.L661F CTNND2_uc010itt.2_Missense_Mutation_p.L570F|CTNND2_uc011cmy.1_Missense_Mutation_p.L324F|CTNND2_uc011cmz.1_Missense_Mutation_p.L228F|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L228F NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 661 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AGGTTCCAAAGGACTCCTGCA 0.488000 45 17 0 0 0.006122 0 0 HECW1 23072 broad.mit.edu 37 7 43351432 43351432 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:43351432G>C uc003tid.1 + 3 703 c.98G>C c.(97-99)cGc>cCc p.R33P HECW1_uc011kbi.1_Missense_Mutation_p.R33P|HECW1_uc003tie.1_Missense_Mutation_p.R65P NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 33 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CAGAGCCGACGCCGGTGCAAG 0.607000 45 11 0 0 0.008291 0 0 GSK3B 2932 broad.mit.edu 37 3 119634959 119634960 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:119634959_119634960CC>TT uc003edo.3 - 4 1522_1523 c.539_540GG>AA c.(538-540)cgg>cAA p.R180Q GSK3B_uc003edn.3_Missense_Mutation_p.R180Q NM_001146156 NP_001139628 P49841 GSK3B_HUMAN Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA. 180 Protein kinase. ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding p.R180Q(3) endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) GTTTAATATCCCGATGGCAGAT 0.406000 45 32 0 0 0.004672 0 0 VGLL2 245806 broad.mit.edu 37 6 117589584 117589584 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:117589584G>A uc003pxn.3 + 1 527 c.321G>A c.(319-321)ctG>ctA p.L107L VGLL2_uc003pxo.3_Silent_p.L107L NM_182645 NP_872586 Q8N8G2 VGLL2_HUMAN Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA. 107 transcription, DNA-dependent nucleus p.L107L(2) central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) GCAGGGCCCTGAGCCAACCCA 0.597000 13 12 0 0 0.000978 0 0 ZNF532 55205 broad.mit.edu 37 18 56587508 56587508 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:56587508C>T uc010xeg.2 + 2 2186 c.1989C>T c.(1987-1989)tcC>tcT p.S663S ZNF532_uc002lhp.3_Silent_p.S661S|ZNF532_uc002lho.3_Silent_p.S663S|ZNF532_uc002lhr.3_Silent_p.S661S|ZNF532_uc002lhs.3_Silent_p.S661S NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN Homo sapiens zinc finger protein 532 (ZNF532), mRNA. 663 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GCCTCCTTTCCCATGCCCGTG 0.483000 28 13 0 0 0.002450 0 0 ALLC 55821 broad.mit.edu 37 2 3750043 3750044 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:3750043_3750044GG>AA uc010ewt.3 + 11 1227_1228 c.1066_1067GG>AA c.(1066-1068)ggg>AAg p.G356K ALLC_uc002qyf.3_Missense_Mutation_p.G127K NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA. 375 allantoicase activity p.D355D(1) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CGTCCCCGACGGGGGAGTGAGC 0.589000 HNSCC(21;0.051) 8 5 0 0 0.004672 0 0 DSCAML1 57453 broad.mit.edu 37 11 117352764 117352764 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:117352764C>T uc001prh.1 - 11 2655 c.2653G>A c.(2653-2655)Ggg>Agg p.G885R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 825 Ig-like C2-type 9. 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 p.G885W(2) 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) ACTGTGTCCCCCTTCTCCCAG 0.627000 1 12 0 0 0.001368 0 0 CSMD3 114788 broad.mit.edu 37 8 113841920 113841920 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:113841920G>A uc003ynu.3 - 11 2013 c.1854C>T c.(1852-1854)ctC>ctT p.L618L CSMD3_uc003ynt.3_Silent_p.L578L|CSMD3_uc011lhx.2_Silent_p.L514L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 618 CUB 3. integral to membrane|plasma membrane p.V617M(1) 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 CTTACACTTGGAGCACTGTCC 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 9 0 0 0.000978 0 0 QRFPR 84109 broad.mit.edu 37 4 122250603 122250603 + Missense_Mutation SNP C T T rs145398896 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:122250603C>T uc010inj.1 - 5 1541 c.1162G>A c.(1162-1164)Gga>Aga p.G388R QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR NM_198179 NP_937822 Q96P65 QRFPR_HUMAN Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA. 388 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 AATGCTTCTCCTTTGGTTTCC 0.423000 108 81 0 0 0.003610 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101771207 101771207 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:101771207G>A uc001pgl.3 - 6 1211 c.615C>T c.(613-615)ttC>ttT p.F205F NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA. 205 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) ACAACCTCTGGAAATCAATTA 0.348000 51 18 0 0 0.002299 0 0 TMPO 7112 broad.mit.edu 37 12 98928048 98928048 + Silent SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:98928048T>G uc001tfh.2 + 3 2308 c.2013T>G c.(2011-2013)acT>acG p.T671T TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron NM_003276 NP_003267 P42167 LAP2B_HUMAN Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA. 0 integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGGCTTCCACTCCCTTTAAAG 0.388000 129 58 0 0 0.003610 0 0 ADCY7 113 broad.mit.edu 37 16 50349029 50349029 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:50349029G>A uc002egd.1 + 23 3344 c.3076G>A c.(3076-3078)Gga>Aga p.G1026R NM_001114 NP_001105 P51828 ADCY7_HUMAN Homo sapiens adenylate cyclase 7 (ADCY7), mRNA. 1026 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GGAAAGCACTGGAGAACTTGG 0.507000 19 25 0 0 0.004656 0 0 DNER 92737 broad.mit.edu 37 2 230282864 230282864 + Silent SNP G A A rs138648634 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:230282864G>A uc002vpv.3 - 8 1716 c.1569C>T c.(1567-1569)ctC>ctT p.L523L NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 523 EGF-like 8; calcium-binding (Potential). Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AGCCATTAACGAGGTCCCTGC 0.522000 32 15 0 0 0.004007 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293630 71293631 + Missense_Mutation DNP GA AT AT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:71293630_71293631GA>AT uc001oqu.3 - 0 291_292 c.253_254TC>AT c.(253-255)tcc>ATc p.S85I NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA. 85 6 X 4 AA repeats of C-C-X-P. keratin filament p.S85F(4) endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ACAGCAGTTGGACTGGGAGCAG 0.624000 58 35 0 0 0.004672 0 0 LEPREL1 55214 broad.mit.edu 37 3 189691762 189691762 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:189691762C>T uc011bsk.2 - 9 1872 c.1484G>A c.(1483-1485)gGa>gAa p.G495E LEPREL1_uc003fsg.3_Missense_Mutation_p.G314E NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 495 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGAAGTTTTTCCTCTGTATCC 0.383000 105 69 0 0 0.003610 0 0 FIG4 9896 broad.mit.edu 37 6 110146339 110146339 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:110146339C>T uc003ptt.2 + 22 2810 c.2595C>T c.(2593-2595)ccC>ccT p.P865P FIG4_uc011eau.1_Silent_p.P559P NM_014845 NP_055660 Q92562 FIG4_HUMAN Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA. 865 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) AAGTTCAGCCCCCAAGAGTAG 0.448000 23 30 0 0 0.002096 0 0 ALOXE3 59344 broad.mit.edu 37 17 8000078 8000079 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:8000078_8000079GG>AA uc002gka.3 - 14 2501_2502 c.2470_2471CC>TT c.(2470-2472)ccg>TTg p.P824L ALOXE3_uc010cnr.3_Missense_Mutation_p.P668L|ALOXE3_uc010vuo.2_Missense_Mutation_p.P800L NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 668 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GCTCCGCCTCGGGGCCTCCTCT 0.614000 18 22 0 0 0.004672 0 0 AICDA 57379 broad.mit.edu 37 12 8757408 8757408 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:8757408G>A uc001qur.2 - 3 617 c.538C>T c.(538-540)Ctt>Ttt p.L180F AICDA_uc001qup.1_Missense_Mutation_p.L165F|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA. 180 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding p.L180I(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) CTTACCAAAAGGATGCGCCGA 0.388000 85 66 0 0 0.003610 0 0 PAPSS2 9060 broad.mit.edu 37 10 89472915 89472915 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:89472915G>A uc001kex.3 + 2 492 c.229G>A c.(229-231)Gat>Aat p.D77N PAPSS2_uc001kew.3_Missense_Mutation_p.D77N|PAPSS2_uc009xtg.1_Non-coding_Transcript NM_004670 NP_004661 O95340 PAPS2_HUMAN Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA. 77 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) TTACTCCCTGGATGGGGACAA 0.498000 43 48 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307248 140307248 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140307248C>T uc003lih.2 + 0 947 c.771C>T c.(769-771)gcC>gcT p.A257A 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_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.A257A NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 281 Cadherin 2. 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) GAGTTCAAGCCTTGGATCCAG 0.532000 21 12 0 0 0.001855 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 144942 144942 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:144942G>A uc003jak.2 + 4 794 c.744_splice c.e4-1 p.R248_splice NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 248 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCCTCCCCAGGAAAGAGGTCC 0.562000 6 13 0 0 0.003163 0 0 SACS 26278 broad.mit.edu 37 13 23913172 23913172 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:23913172G>A uc001uon.2 - 9 5432 c.4843C>T c.(4843-4845)Cct>Tct p.P1615S SACS_uc001uoo.2_Missense_Mutation_p.P1468S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1615 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTGATTAGGAAATTTTCTA 0.343000 31 26 0 0 0.003954 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343834 38343834 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:38343834C>T uc010qev.2 + 3 904 c.800C>T c.(799-801)tCc>tTc p.S267F ZNF33A_uc001izg.3_Missense_Mutation_p.S261F|ZNF33A_uc001izh.3_Missense_Mutation_p.S260F|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.S261F NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 260 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GATAGTTCATCCCTCTTGTTC 0.383000 18 24 0 0 0.003330 0 0 ATP8B4 79895 broad.mit.edu 37 15 50399151 50399151 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:50399151C>T uc001zxu.3 - 1 155 c.13G>A c.(13-15)Gaa>Aaa p.E5K ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 5 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) AATTTCTTTTCACTGCAGAAC 0.289000 27 23 0 0 0.004656 0 0 C11orf30 56946 broad.mit.edu 37 11 76234319 76234319 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:76234319C>T uc001oxl.3 + 11 1948 c.1805C>T c.(1804-1806)aCg>aTg p.T602M C11orf30_uc001oxm.3_Missense_Mutation_p.T518M|C11orf30_uc010rsb.2_Missense_Mutation_p.T617M|C11orf30_uc010rsc.2_Missense_Mutation_p.T617M|C11orf30_uc001oxn.3_Missense_Mutation_p.T603M|C11orf30_uc010rsd.2_Missense_Mutation_p.T616M NM_020193 NP_064578 Q7Z589 EMSY_HUMAN Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA. 602 Thr-rich. DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.T601K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GTTGTCACAACGTTGCTAAAT 0.423000 16 39 0 0 0.006230 0 0 PNRC1 10957 broad.mit.edu 37 6 89790784 89790785 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:89790784_89790785CC>TT uc003pmv.3 + 0 356_357 c.171_172CC>TT c.(169-174)ctccct>ctTTct p.P58S PNRC1_uc021zcp.1_Missense_Mutation_p.P58S|PNRC1_uc003pmx.3_5'Flank NM_006813 NP_006804 Q12796 PNRC1_HUMAN Homo sapiens proline-rich nuclear receptor coactivator 1 (PNRC1), mRNA. 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CCCTCTTCCTCCCTCATTTCCT 0.703000 Multiple Myeloma(7;0.094) 15 15 0 0 0.004672 0 0 ZNF286A 57335 broad.mit.edu 37 17 15604486 15604486 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:15604486C>T uc010cot.3 + 2 454 c.58C>T c.(58-60)Ccc>Tcc p.P20S ZNF286A_uc002goz.4_5'UTR|ZNF286A_uc010vwa.2_Missense_Mutation_p.P20S|ZNF286A_uc002gpa.3_Missense_Mutation_p.P20S NM_001130842 NP_065703 Q9HBT8 Z286A_HUMAN Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA. 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S19S(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) CCAGGATTCTCCCCATTTCCA 0.473000 183 60 0 0 0.003610 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625336 56625336 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:56625336C>T uc010sqj.2 + 3 535 c.278C>T c.(277-279)tCc>tTc p.S93F SLC39A5_uc010sqi.2_5'UTR|SLC39A5_uc010sqk.2_Missense_Mutation_p.S93F NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA. 93 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCAGACAATTCCACACACAGG 0.632000 27 15 0 0 0.004007 0 0 MAP1A 4130 broad.mit.edu 37 15 43816167 43816167 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:43816167C>T uc001zrt.3 + 3 2963 c.2496C>T c.(2494-2496)atC>atT p.I832I NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 832 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCACTTCAATCACTGAGTGTG 0.522000 23 15 0 0 0.003163 0 0 HSF5 124535 broad.mit.edu 37 17 56536308 56536308 + Splice_Site SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:56536308T>A uc002iwi.1 - 5 1667 c.1543_splice c.e5-1 p.V515_splice NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 515 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCATCCACCTAAAATATTAA 0.383000 82 116 0 0 0.003610 0 0 ARL8A 127829 broad.mit.edu 37 1 202107544 202107544 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:202107544G>A uc001gxk.1 - 1 322 c.156C>T c.(154-156)acC>acT p.T52T NM_138795 NP_620150 Q96BM9 ARL8A_HUMAN Homo sapiens ADP-ribosylation factor-like 8A (ARL8A), transcript variant 1, mRNA. 52 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 TGAAACCCACGGTGGGGATCA 0.512000 21 26 0 0 0.001786 0 0 TBCD 6904 broad.mit.edu 37 17 80758854 80758854 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:80758854C>T uc002kfy.1 + 8 1062 c.932C>T c.(931-933)cCg>cTg p.P311L TBCD_uc002kfx.1_Missense_Mutation_p.P294L|TBCD_uc002kfz.3_Missense_Mutation_p.P311L NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN Homo sapiens tubulin folding cofactor D (TBCD), mRNA. 311 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction GTPase activator activity|beta-tubulin binding|chaperone binding Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TTCCTGAAGCCGAAGGTGGCA 0.662000 15 24 0 0 0.003330 0 0 SCEL 8796 broad.mit.edu 37 13 78130781 78130781 + Missense_Mutation SNP G A A rs142444600 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:78130781G>A uc001vki.3 + 2 264 c.94G>A c.(94-96)Gag>Aag p.E32K SCEL_uc010thx.2_Missense_Mutation_p.E32K|SCEL_uc001vkj.3_Missense_Mutation_p.E32K NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 32 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GGATTTTCACGAGGTGAACAA 0.448000 126 39 0 0 0.004289 0 0 CADPS2 93664 broad.mit.edu 37 7 122377021 122377021 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:122377021C>T uc022akp.1 - 1 863 c.441G>A c.(439-441)cgG>cgA p.R147R CADPS2_uc022akq.1_Silent_p.R147R|CADPS2_uc010lkq.3_Silent_p.R147R|CADPS2_uc022akr.1_Silent_p.R147R NM_001167940 NP_001161412 Q86UW7 CAPS2_HUMAN Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA. 147 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CATAATAACTCCGAACTGCGT 0.373000 19 15 0 0 0.003163 0 0 MR1 3140 broad.mit.edu 37 1 181018307 181018307 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:181018307C>T uc001goq.2 + 2 348 c.187C>T c.(187-189)Cgg>Tgg p.R63W MR1_uc001gor.2_Missense_Mutation_p.R63W|MR1_uc001gos.2_Missense_Mutation_p.R63W|MR1_uc010pns.2_Missense_Mutation_p.R63W|MR1_uc001gop.3_Missense_Mutation_p.R63W NM_001531 NP_001522 Q95460 HMR1_HUMAN Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA. 63 Alpha-1.|Ligand-binding. R -> Q (in dbSNP:rs3897433). antigen processing and presentation of peptide antigen via MHC class I|immune response MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane MHC class I receptor activity p.R63Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 CAGTGTCACTCGGCAGAAGGA 0.572000 12 13 0 0 0.002450 0 0 HGS 9146 broad.mit.edu 37 17 79662044 79662044 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:79662044G>A uc002kbg.3 + 12 1201 c.1066G>A c.(1066-1068)Gag>Aag p.E356K NM_004712 NP_004703 O14964 HGS_HUMAN Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA. 356 Interaction with SNX1 (By similarity).|Pro-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCCCCTGACGGAGCCGGCTGC 0.667000 41 8 0 0 0.003080 0 0 CTSC 1075 broad.mit.edu 37 11 88033707 88033708 + Nonsense_Mutation DNP GA AC AC TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:88033707_88033708GA>AC uc001pck.4 - 4 848_849 c.747_748TC>GT c.(745-750)gttcga>gtGTga p.R250* CTSC_uc001pcl.4_Nonsense_Mutation_p.R102* NM_001814 NP_001805 P53634 CATC_HUMAN Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA. 250 immune response lysosome cysteine-type endopeptidase activity p.R250*(2) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTTGGTTTCGAACAGGACTGA 0.371000 19 18 0 0 0.004672 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258620 9258620 + Silent SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:9258620G>T uc002knv.3 + 8 5619 c.5355G>T c.(5353-5355)cgG>cgT p.R1785R ANKRD12_uc002knw.3_Silent_p.R1762R|ANKRD12_uc002knx.3_Silent_p.R1762R|ANKRD12_uc010dkx.1_Silent_p.R1492R NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1785 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACCATCCACGGAAAAGGAAAG 0.418000 13 37 1.30998e-17 1.816e-17 0.005524 1 0 VTN 7448 broad.mit.edu 37 17 26696596 26696597 + Missense_Mutation DNP TC CT CT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:26696596_26696597TC>CT uc002hbc.3 - 2 609_610 c.460_461GA>AG c.(460-462)gag>AGg p.E154R TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN Homo sapiens vitronectin (VTN), mRNA. 154 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) ACTGCACAGCTCCTCCTCTGCT 0.629000 15 14 0 0 0.004672 0 0 AFF3 3899 broad.mit.edu 37 2 100170902 100170902 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:100170902G>A uc002taf.3 - 22 3649 c.3505C>T c.(3505-3507)Ccg>Tcg p.P1169S AFF3_uc002tag.3_Missense_Mutation_p.P1144S NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 1144 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 ATGGTCGACGGGGACAGGGCG 0.637000 17 8 0 0 0.003080 0 0 FRMD5 84978 broad.mit.edu 37 15 44181045 44181045 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:44181045C>T uc001ztl.3 - 8 931 c.754G>A c.(754-756)Gaa>Aaa p.E252K FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.E163K|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.E18K NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA. 252 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) GTCTTTCCTTCAAATTTCAGC 0.473000 48 12 0 0 0.001855 0 0 KIT 3815 broad.mit.edu 37 4 55564466 55564466 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:55564466C>T uc010igr.3 + 2 441 c.354C>T c.(352-354)ttC>ttT p.F118F KIT_uc010igs.3_Silent_p.F118F NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 118 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCAAGCTTTTCCTTGTTGACC 0.458000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 21 20 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179594940 179594940 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179594940C>T uc021vsy.1 - 58 14680 c.14455G>A c.(14455-14457)Gat>Aat p.D4819N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1480N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5746 Ig-like 28. 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) GAGGTGTCATCCTTCCAAACT 0.468000 19 12 0 0 0.004990 0 0 USP34 9736 broad.mit.edu 37 2 61597488 61597488 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:61597488G>A uc002sbe.3 - 9 1241 c.1219C>T c.(1219-1221)Caa>Taa p.Q407* NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 407 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TCAATATGTTGAGTACTCAGT 0.348000 38 74 0 0 0.003610 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010570 73010570 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:73010570C>T uc003tyn.1 - 12 2019 c.1971G>A c.(1969-1971)gcG>gcA p.A657A MLXIPL_uc003tyj.1_Silent_p.A36A|MLXIPL_uc003tyk.1_Silent_p.A655A|MLXIPL_uc003tym.1_Silent_p.A657A|MLXIPL_uc003tyl.1_Silent_p.A655A|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.A563A NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 657 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GCTTCTGCTCCGCGGAGATGT 0.632000 36 8 0 0 0.008291 0 0 KCNK10 54207 broad.mit.edu 37 14 88652148 88652148 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:88652148T>C uc001xwm.3 - 6 1485 c.1363A>G c.(1363-1365)Acc>Gcc p.T455A KCNK10_uc001xwn.3_Missense_Mutation_p.T455A|KCNK10_uc001xwo.3_Missense_Mutation_p.T450A NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 450 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGTCTGGAGGTGGACCCGAAC 0.547000 35 42 0 0 0.008740 0 0 CARD11 84433 broad.mit.edu 37 7 2985573 2985573 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:2985573G>A uc003smv.3 - 3 572 c.238C>T c.(238-240)Cta>Tta p.L80L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 80 CARD. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R79S(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGGTATGTAGAATGTCCAAC 0.493000 Mis DLBCL 76 70 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238277279 238277279 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:238277279G>A uc002vwl.2 - 9 5112 c.4827C>T c.(4825-4827)atC>atT p.I1609I COL6A3_uc002vwo.2_Silent_p.I1403I|COL6A3_uc010znj.1_Silent_p.I1002I NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1609 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACGAGTTCATGATTCTTTCTT 0.552000 39 20 0 0 0.007413 0 0 GNG2 54331 broad.mit.edu 37 14 52433367 52433367 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:52433367C>T uc001wzi.3 + 3 735 c.178C>T c.(178-180)Ccg>Tcg p.P60S GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P60S|GNG2_uc001wzj.3_Missense_Mutation_p.P60S|GNG2_uc001wzk.3_Missense_Mutation_p.P60S NM_053064 NP_444292 P59768 GBG2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA. 60 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) TTCAGAAAACCCGTTTAGGGA 0.522000 71 21 0 0 0.002299 0 0 SLC6A1 6529 broad.mit.edu 37 3 11078587 11078587 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:11078587C>T uc010hdq.3 + 15 2146 c.1735C>T c.(1735-1737)Cgc>Tgc p.R579C NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 579 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) AGACATCGTTCGCCCAGAGAA 0.637000 31 17 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179574513 179574513 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179574513G>A uc021vsy.1 - 95 25026 c.24801C>T c.(24799-24801)ttC>ttT p.F8267F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4928F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9194 Ig-like 65. 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) CCTCAAGTTTGAAAGAATTCC 0.383000 59 26 0 0 0.004656 0 0 RNF43 54894 broad.mit.edu 37 17 56435835 56435835 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:56435835G>A uc002iwf.3 - 7 3258 c.1302C>T c.(1300-1302)ccC>ccT p.P434P RNF43_uc010wnv.2_Silent_p.P393P|RNF43_uc002iwh.4_Silent_p.P434P|RNF43_uc002iwg.4_Silent_p.P434P|RNF43_uc010dcw.3_Silent_p.P307P NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 434 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCGGCGTAGGGGCACTGGGC 0.642000 32 10 0 0 0.002450 0 0 TINAG 27283 broad.mit.edu 37 6 54173453 54173453 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:54173453C>T uc003pcj.2 + 0 251 c.105C>T c.(103-105)ttC>ttT p.F35F TINAG_uc003pci.3_Silent_p.F35F|TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 35 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AGGCTTATTTCACTAGGAATC 0.393000 37 39 0 0 0.005524 0 0 OR1N2 138882 broad.mit.edu 37 9 125316021 125316021 + Silent SNP C T T rs143315983 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:125316021C>T uc011lyx.2 + 0 573 c.573C>T c.(571-573)atC>atT p.I191I NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I191I(2) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 AGAAAGCCATCCCTCATTTCT 0.527000 44 38 0 0 0.003610 0 0 MYT1L 23040 broad.mit.edu 37 2 1926200 1926200 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:1926200G>A uc002qxe.3 - 9 2168 c.1341C>T c.(1339-1341)gcC>gcT p.A447A MYT1L_uc002qxd.3_Silent_p.A447A|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 447 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCTCCCTCATGGCCTTTGCTC 0.542000 60 39 0 0 0.003214 0 0 COL21A1 81578 broad.mit.edu 37 6 55942371 55942371 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:55942371C>T uc003pcs.3 - 18 2045 c.1813_splice c.e18-1 p.G605_splice COL21A1_uc010jzz.3_Splice_Site|COL21A1_uc011dxg.2_Splice_Site|COL21A1_uc011dxh.2_Splice_Site|COL21A1_uc003pcr.3_Splice_Site NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 605 Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCTGGGATTCCCTAAAAACAA 0.318000 12 4 0 0 0.000602 0 0 TACC2 10579 broad.mit.edu 37 10 123970317 123970317 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:123970317G>A uc001lfv.3 + 8 6737 c.6377G>A c.(6376-6378)cGa>cAa p.R2126Q TACC2_uc001lfw.3_Missense_Mutation_p.R272Q|TACC2_uc009xzx.3_Missense_Mutation_p.R2081Q|TACC2_uc010qtv.2_Missense_Mutation_p.R2130Q|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.R204Q|TACC2_uc001lga.3_Missense_Mutation_p.R204Q|TACC2_uc009xzy.3_Missense_Mutation_p.R204Q|TACC2_uc001lgb.3_Missense_Mutation_p.R161Q|TACC2_uc010qtw.1_Missense_Mutation_p.R221Q NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2126 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACCCTTAAGCGAACTAAAAAA 0.532000 59 16 0 0 0.004990 0 0 DNAH3 55567 broad.mit.edu 37 16 21011706 21011706 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:21011706G>A uc010vbe.2 - 42 6261 c.6261C>T c.(6259-6261)ttC>ttT p.F2087F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2087 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGTGGAGAAGGAAGTTGTTGG 0.493000 20 22 0 0 0.002299 0 0 DMGDH 29958 broad.mit.edu 37 5 78329201 78329201 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:78329201C>T uc003kfs.3 - 7 1230 c.1224G>A c.(1222-1224)ggG>ggA p.G408G DMGDH_uc011cte.1_Silent_p.G258G|DMGDH_uc011ctf.1_Silent_p.G207G|DMGDH_uc011ctg.1_Silent_p.G28G NM_013391 NP_037523 Q9UI17 M2GD_HUMAN Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA. 408 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TGAGATATTTCCCTACCCCAC 0.398000 39 23 0 0 0.003954 0 0 PLCE1 51196 broad.mit.edu 37 10 95791619 95791619 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:95791619G>A uc001kjk.3 + 1 1450 c.816G>A c.(814-816)aaG>aaA p.K272K PLCE1_uc010qnx.2_Silent_p.K272K NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 272 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CTTGTGAGAAGGTTGACATGG 0.388000 64 23 0 0 0.002299 0 0 TXK 7294 broad.mit.edu 37 4 48088607 48088607 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:48088607C>T uc003gxx.4 - 9 918 c.832G>A c.(832-834)Gga>Aga p.G278R NM_003328 NP_003319 P42681 TXK_HUMAN Homo sapiens TXK tyrosine kinase (TXK), mRNA. 278 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TGACCGCTTCCAATCTCCTTT 0.398000 30 27 0 0 0.005443 0 0 MED12L 116931 broad.mit.edu 37 3 150903248 150903248 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:150903248G>A uc003eyp.3 + 11 1755 c.1626_splice c.e11+1 p.E542_splice MED12L_uc011bnz.2_Splice_Site_p.E402_splice|MED12L_uc003eyn.3_Splice_Site_p.E542_splice|MED12L_uc003eyo.3_Splice_Site_p.E542_splice|5S_rRNA_uc021xfx.1_5'Flank NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 542 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGAGGCAGAGGTAGGTTCCA 0.443000 12 15 0 0 0.004990 0 0 SLC12A5 57468 broad.mit.edu 37 20 44669997 44669997 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:44669997C>T uc010zxl.1 + 7 1029 c.953C>T c.(952-954)tCt>tTt p.S318F SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.S295F NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 318 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CGCACGCTGTCTCGCCATGGC 0.577000 23 9 0 0 0.006214 0 0 ZNRF3 84133 broad.mit.edu 37 22 29383122 29383122 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:29383122G>T uc003aeg.3 + 1 359 c.359G>T c.(358-360)tGg>tTg p.W120L ZNRF3_uc021wnq.1_Missense_Mutation_p.W20L NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 120 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GAATATGGCTGGGTAGGAGTG 0.478000 41 23 4.87955e-14 6.7427e-14 0.005443 1 0 GABRB2 2561 broad.mit.edu 37 5 160753374 160753374 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:160753374C>T uc003lys.1 - 10 1409 c.1191_splice c.e10+1 p.T397_splice GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 397 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCTATCTAACCGTATACAGA 0.393000 21 8 0 0 0.003080 0 0 MICU1 10367 broad.mit.edu 37 10 74326472 74326472 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:74326472A>C uc001jtb.2 - 1 263 c.80T>G c.(79-81)aTc>aGc p.I27S MIR1256_uc021pth.1_Intron NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 27 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding CCGGATCTGGATGGGCTGTGA 0.483000 7 6 0 0 0.001984 0 0 GNAT1 2779 broad.mit.edu 37 3 50232077 50232078 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:50232077_50232078GG>AA uc003cym.2 + 6 968_969 c.852_853GG>AA c.(850-855)ccggac>ccAAac p.D285N GNAT1_uc003cyl.2_Missense_Mutation_p.D285N NM_144499 NP_653082 P11488 GNAT1_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA. 285 G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TCTGTTTCCCGGACTACGATGG 0.634000 OREG0015580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 30 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82578946 82578946 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:82578946G>A uc003uhx.2 - 5 11247 c.10958C>T c.(10957-10959)cCa>cTa p.P3653L PCLO_uc003uhv.2_Missense_Mutation_p.P3653L|PCLO_uc010lec.3_Missense_Mutation_p.P618L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3584 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TACTTTCTGTGGACTTATATC 0.473000 76 73 0 0 0.003610 0 0 EDIL3 10085 broad.mit.edu 37 5 83360633 83360633 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:83360633G>A uc003kio.1 - 7 1257 c.838C>T c.(838-840)Cca>Tca p.P280S EDIL3_uc003kip.1_Missense_Mutation_p.P270S|EDIL3_uc011ctt.1_Missense_Mutation_p.P57S NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 280 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTAGCATATGGAGTGTTGTTA 0.368000 29 10 0 0 0.002450 0 0 ABCA3 21 broad.mit.edu 37 16 2376255 2376255 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:2376255C>T uc002cpy.1 - 4 787 c.75G>A c.(73-75)acG>acA p.T25T ABCA3_uc010bsk.1_Silent_p.T25T|ABCA3_uc010bsl.1_Silent_p.T25T|ABCA3_uc002cpz.1_Silent_p.T25T NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 25 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GTTCCAGGACCGTCACCAGGA 0.567000 41 5 0 0 0.000602 0 0 CCDC89 220388 broad.mit.edu 37 11 85396053 85396053 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:85396053G>A uc001pau.1 - 0 1268 c.1121C>T c.(1120-1122)cCa>cTa p.P374L NM_152723 NP_689936 Q8N998 CCD89_HUMAN Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA. 374 cytoplasm|nucleus p.P374P(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACTTCCCTATGGAGAGAGATG 0.418000 41 23 0 0 0.006320 0 0 ABCC9 10060 broad.mit.edu 37 12 21997802 21997802 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:21997802G>A uc001rfh.3 - 24 3164 c.3144C>T c.(3142-3144)ttC>ttT p.F1048F ABCC9_uc001rfi.1_Silent_p.F1048F NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1048 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAAGGCAAAGGAAAATGCCTG 0.408000 22 20 0 0 0.007413 0 0 TPH2 121278 broad.mit.edu 37 12 72425098 72425098 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:72425098G>A uc009zrw.1 + 9 1366 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K TPH2_uc001swy.2_Missense_Mutation_p.E319K NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 409 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TTGCTTACAGGAATGCCTTAT 0.403000 66 20 0 0 0.008871 0 0 STAU1 6780 broad.mit.edu 37 20 47734358 47734358 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:47734358G>A uc002xud.3 - 10 1876 c.1465C>T c.(1465-1467)Ccc>Tcc p.P489S STAU1_uc002xua.3_Missense_Mutation_p.P408S|STAU1_uc002xub.3_Missense_Mutation_p.P414S|STAU1_uc002xuc.3_Missense_Mutation_p.P408S|STAU1_uc002xue.3_Missense_Mutation_p.P408S|STAU1_uc002xuf.3_Missense_Mutation_p.P414S|STAU1_uc002xug.3_Missense_Mutation_p.P489S NM_017453 NP_059348 O95793 STAU1_HUMAN Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA. 489 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGCTCAGAGGGTCTCGTGAGA 0.537000 38 9 0 0 0.004482 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140772878 140772878 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140772878C>T uc003lkd.2 + 0 1396 c.498C>T c.(496-498)tcC>tcT p.S166S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.S166S|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 166 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGAACTCCCTCCAGAGCT 0.557000 30 17 0 0 0.008871 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477210 110477210 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:110477210G>A uc003yne.3 + 48 8253 c.8149G>A c.(8149-8151)Gga>Aga p.G2717R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2717 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGATGAACTGGGAATGGGGTC 0.473000 HNSCC(38;0.096) 74 18 0 0 0.001523 0 0 AOAH 313 broad.mit.edu 37 7 36662820 36662820 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:36662820A>C uc022abu.1 - 6 959 c.558T>G c.(556-558)gaT>gaG p.D186E AOAH_uc003tfh.4_Missense_Mutation_p.D186E|AOAH_uc011kba.2_Missense_Mutation_p.D154E NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 186 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ATTTGTCTGAATCCACATCTT 0.358000 20 14 0 0 0.006122 0 0 IFNA16 3449 broad.mit.edu 37 9 21217191 21217191 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:21217191C>T uc003zor.1 - 0 120 c.114G>A c.(112-114)ttG>ttA p.L38L IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 38 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.L38S(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCAGGAGTATCAAGGCCCTCC 0.502000 7 52 0 0 0.003610 0 0 GLP1R 2740 broad.mit.edu 37 6 39034053 39034053 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:39034053C>T uc003ooj.4 + 4 543 c.483C>T c.(481-483)atC>atT p.I161I GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 161 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CTCTGGTTATCGCCTCTGCGA 0.602000 23 14 0 0 0.004007 0 0 CTDSP2 10106 broad.mit.edu 37 12 58221362 58221362 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:58221362G>A uc001sqm.3 - 2 754 c.225C>T c.(223-225)ctC>ctT p.L75L CTDSP2_uc009zqf.3_5'UTR|CTDSP2_uc009zqg.3_Intron|MIR26A2_uc001sqn.2_5'Flank NM_005730 NP_005721 O14595 CTDS2_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA. 75 protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) GGAGACACTGGAGCAGATCCG 0.572000 7 7 0 0 0.004482 0 0 DAO 1610 broad.mit.edu 37 12 109278948 109278948 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:109278948C>T uc001tnr.4 + 1 837 c.166C>T c.(166-168)Ctt>Ttt p.L56F DAO_uc001tnq.4_Missense_Mutation_p.L56F|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript NM_001917 NP_001908 P14920 OXDA_HUMAN Homo sapiens D-amino-acid oxidase (DAO), mRNA. 56 glyoxylate metabolic process peroxisomal matrix D-amino-acid oxidase activity|binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 GCAGCCCTACCTTTCTGACCC 0.617000 26 34 0 0 0.002522 0 0 CYP2C19 1557 broad.mit.edu 37 10 96480249 96480249 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:96480249C>T uc001kjv.4 + 5 1242 c.916C>T c.(916-918)Ctg>Ttg p.L306L CYP2C19_uc001kjw.4_Silent_p.L247L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 306 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) GAGCACCACTCTGAGATATGG 0.448000 36 19 0 0 0.001882 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066980 18066980 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:18066980T>C uc003stz.3 - 0 507 c.426A>G c.(424-426)gtA>gtG p.V142V NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 142 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) ACAAGTTGTCTACTGGGATAT 0.453000 40 49 0 0 0.003610 0 0 KCNC1 3746 broad.mit.edu 37 11 17793886 17793886 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:17793886G>A uc009yhc.1 + 1 1300 c.1245G>A c.(1243-1245)ctG>ctA p.L415L KCNC1_uc001mnk.4_Silent_p.L415L NM_001112741 NP_001106212 P48547 KCNC1_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA. 415 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CCGGCATGCTGGTGGGGGCTC 0.602000 54 16 0 0 0.006122 0 0 SCUBE1 80274 broad.mit.edu 37 22 43616506 43616506 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:43616506G>A uc003bdt.2 - 13 1764 c.1637C>T c.(1636-1638)tCc>tTc p.S546F NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 546 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TGTGATGTGGGACACCTCCTT 0.577000 43 12 0 0 0.001368 0 0 LIMCH1 22998 broad.mit.edu 37 4 41663489 41663489 + Missense_Mutation SNP G A A rs139738687 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:41663489G>A uc003gvz.4 + 18 3506 c.3089G>A c.(3088-3090)gGa>gAa p.G1030E LIMCH1_uc003gwe.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvu.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvv.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvw.4_Missense_Mutation_p.G645E|LIMCH1_uc003gvx.4_Missense_Mutation_p.G633E|LIMCH1_uc003gvy.4_Missense_Mutation_p.G474E|LIMCH1_uc003gwa.4_Missense_Mutation_p.G486E|LIMCH1_uc011byu.2_Missense_Mutation_p.G479E|LIMCH1_uc003gwc.4_Missense_Mutation_p.G491E|LIMCH1_uc003gwd.4_Missense_Mutation_p.G479E|LIMCH1_uc011byv.2_Missense_Mutation_p.G396E|LIMCH1_uc011byw.2_5'Flank NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 645 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AATGATGGTGGAAAATCAAGA 0.353000 OREG0016170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 6 0 0 0.003080 0 0 CACNA1E 777 broad.mit.edu 37 1 181721290 181721290 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:181721290G>A uc009wxt.3 + 26 3938 c.3743G>A c.(3742-3744)gGa>gAa p.G1248E CACNA1E_uc001gow.3_Missense_Mutation_p.G1248E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1229E|CACNA1E_uc001gox.1_Missense_Mutation_p.G474E NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1248 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 ACCAACAAAGGACGGGACATC 0.483000 27 30 0 0 0.001786 0 0 KCNH6 81033 broad.mit.edu 37 17 61611254 61611254 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61611254C>T uc002jay.3 + 4 763 c.683C>T c.(682-684)tCc>tTc p.S228F KCNH6_uc002jax.1_Missense_Mutation_p.S228F|KCNH6_uc010wpl.2_Missense_Mutation_p.S105F|KCNH6_uc010wpm.2_Missense_Mutation_p.S228F|KCNH6_uc002jaz.1_Missense_Mutation_p.S228F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 228 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CAGGTCCTGTCCCTGGGCGCG 0.687000 49 13 0 0 0.001368 0 0 ABCA11P 79963 broad.mit.edu 37 4 437781 437781 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:437781G>A uc003gaf.4 - 2 797 c.571C>T c.(571-573)Cat>Tat p.H191Y ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.H159Y|ABCA11P_uc010ibe.3_Missense_Mutation_p.H147Y NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TCTCCAGTATGAATTTTCTTG 0.393000 127 37 0 0 0.004878 0 0 QRSL1 55278 broad.mit.edu 37 6 107096972 107096972 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:107096972G>A uc003prm.3 + 4 569 c.453G>A c.(451-453)aaG>aaA p.K151K QRSL1_uc003prl.2_Silent_p.K151K NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA. 151 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) ATAGAGAAAAGAGGAAGCAGA 0.463000 19 17 0 0 0.004990 0 0 SDK1 221935 broad.mit.edu 37 7 4153801 4153801 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:4153801G>A uc003smx.3 + 24 3857 c.3718G>A c.(3718-3720)Gag>Aag p.E1240K SDK1_uc010kso.3_Missense_Mutation_p.E516K NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1240 Fibronectin type-III 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ATTCACCATCGAGGAGCTGGA 0.637000 15 18 0 0 0.001882 0 0 MAN2A1 4124 broad.mit.edu 37 5 109120469 109120469 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:109120469C>T uc003kou.1 + 9 2565 c.1602C>T c.(1600-1602)ttC>ttT p.F534F NM_002372 NP_002363 Q16706 MA2A1_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA. 534 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TTTACTATTTCGCCCTGAGAC 0.333000 35 11 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179426117 179426117 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179426117G>A uc021vsy.1 - 274 77263 c.77038C>T c.(77038-77040)Cct>Tct p.P25680S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P19375S|TTN_uc021vta.1_Missense_Mutation_p.P19308S|TTN_uc021vtb.1_Missense_Mutation_p.P19183S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26607 Ig-like 125. 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) TCTCTTGCAGGGACTGGTTCA 0.413000 98 32 0 0 0.004289 0 0 LNX1 84708 broad.mit.edu 37 4 54362234 54362234 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:54362234C>T uc003hag.4 - 5 1562 c.1306G>A c.(1306-1308)Gat>Aat p.D436N PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D340N|LNX1_uc003hah.4_Intron NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA. 436 PDZ 2. cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TATCGAAGATCATGTCCATTG 0.507000 63 12 0 0 0.000978 0 0 EXPH5 23086 broad.mit.edu 37 11 108380982 108380982 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:108380982C>T uc001pkk.3 - 5 5363 c.5252G>A c.(5251-5253)aGg>aAg p.R1751K EXPH5_uc010rvz.2_Missense_Mutation_p.R1595K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1563K NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1751 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGGGCTCAGCCTCCTCTGATT 0.507000 17 17 0 0 0.004007 0 0 CACNG5 27091 broad.mit.edu 37 17 64881222 64881222 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:64881222C>T uc010wqi.2 + 5 930 c.693C>T c.(691-693)ttC>ttT p.F231F CACNG5_uc010wqj.2_Silent_p.F231F NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 231 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). 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) CAGGCCAGTTCCTACACCCAG 0.627000 27 24 0 0 0.005443 0 0 MGA 23269 broad.mit.edu 37 15 42000029 42000030 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:42000029_42000030CC>TT uc010ucy.2 + 5 2473_2474 c.2292_2293CC>TT c.(2290-2295)aacctt>aaTTtt p.L765F MGA_uc001zog.1_Missense_Mutation_p.L765F|MGA_uc010ucz.2_Missense_Mutation_p.L765F NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 765 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTTTTTGGAACCTTACAGGAAC 0.366000 52 9 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139155261 139155261 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:139155261C>T uc003yuy.3 - 15 3803 c.3632G>A c.(3631-3633)cGa>cAa p.R1211Q FAM135B_uc003yux.3_Missense_Mutation_p.R1112Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R773Q|FAM135B_uc003yvb.3_3'UTR NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1211 p.R1211Q(3) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTACCTAATTCGGGATATGGA 0.393000 HNSCC(54;0.14) 19 15 0 0 0.004990 0 0 NGLY1 55768 broad.mit.edu 37 3 25761670 25761670 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:25761670G>A uc003cdl.3 - 10 1732 c.1624C>T c.(1624-1626)Cga>Tga p.R542* NGLY1_uc010hfg.3_Nonsense_Mutation_p.R524*|NGLY1_uc003cdm.3_Intron|NGLY1_uc011awo.2_Nonsense_Mutation_p.R500*|NGLY1_uc003cdk.3_Non-coding_Transcript NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA. 542 PAW. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CCTTCCTTTCGGGCCAAATAT 0.363000 19 21 0 0 0.001523 0 0 LRP1B 53353 broad.mit.edu 37 2 141201961 141201961 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:141201961G>A uc002tvj.1 - 64 11204 c.10232C>T c.(10231-10233)cCa>cTa p.P3411L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3411 LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAAGTTTACTGGGATACATTT 0.393000 TSP Lung(27;0.18) 26 40 0 0 0.007835 0 0 IQCA1 79781 broad.mit.edu 37 2 237308122 237308122 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:237308122C>T uc002vwb.2 - 8 1199 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K IQCA1_uc002vvz.1_Missense_Mutation_p.E382K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E341K NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 382 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTCCATTTTTCGTCTTCTTCC 0.458000 49 12 0 0 0.000978 0 0 C11orf41 25758 broad.mit.edu 37 11 33564920 33564920 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:33564920C>T uc021qfs.1 + 0 1044 c.920C>T c.(919-921)aCc>aTc p.T307I C11orf41_uc001mun.1_Missense_Mutation_p.T307I NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA. 307 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 52 GATTTCAGCACCGGTAGTGTC 0.473000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 32 0 0 0.003755 0 0 ZFHX3 463 broad.mit.edu 37 16 72822397 72822397 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:72822397C>T uc002fck.3 - 9 10451 c.9778G>A c.(9778-9780)Gag>Aag p.E3260K ZFHX3_uc002fcl.3_Missense_Mutation_p.E2346K NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3260 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCTCCTTTCTCCTTCTTGGGG 0.592000 62 25 0 0 0.003954 0 0 C7 730 broad.mit.edu 37 5 40955534 40955534 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:40955534G>A uc003jmh.3 + 9 1253 c.1139G>A c.(1138-1140)gGa>gAa p.G380E C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 380 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATCAGAGGGGGAGGTGCAGGC 0.423000 43 56 0 0 0.003610 0 0 ANO5 203859 broad.mit.edu 37 11 22271783 22271783 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:22271783G>A uc001mqi.2 + 10 1196 c.879_splice c.e10-1 p.K293_splice ANO5_uc001mqj.2_Splice_Site_p.K292_splice NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 293 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTTTTCACAGGAATTATTATG 0.318000 16 8 0 0 0.006214 0 0 PTH1R 5745 broad.mit.edu 37 3 46943282 46943282 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:46943282C>T uc003cqm.3 + 12 1346 c.1143C>T c.(1141-1143)atC>atT p.I381I PTH1R_uc021wxg.1_Silent_p.I381I NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 381 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TCATCAATATCGTCCGGGTGC 0.662000 24 16 0 0 0.008871 0 0 CSF3R 1441 broad.mit.edu 37 1 36945038 36945039 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:36945038_36945039GG>AA uc001caw.2 - 2 643_644 c.59_60CC>TT c.(58-60)ccc>cTT p.P20L CSF3R_uc001cav.2_Missense_Mutation_p.P20L|CSF3R_uc001cax.2_Missense_Mutation_p.P20L NM_000760 NP_000751 Q99062 CSF3R_HUMAN Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA. 20 cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) ACTCACTTCCGGGGAGCAGCAG 0.545000 19 4 0 0 0.004672 0 0 KIF26B 55083 broad.mit.edu 37 1 245850440 245850440 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:245850440C>T uc001ibf.1 + 11 4595 c.4155C>T c.(4153-4155)atC>atT p.I1385I KIF26B_uc001ibg.1_Silent_p.I1003I|KIF26B_uc001ibh.1_Silent_p.I627I NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 1385 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGGGTACATCCCCATGAAGA 0.582000 10 3 0 0 0.000602 0 0 ZNF66 0 broad.mit.edu 37 19 20975437 20975437 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:20975437C>T uc002npe.3 + 1 c.298C>T Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds. GAAACCTGGTCTTTCTTGGTG 0.328000 62 10 0 0 0.001368 0 0 CD1E 913 broad.mit.edu 37 1 158325692 158325692 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:158325692G>A uc001fse.3 + 3 994 c.701G>A c.(700-702)gGa>gAa p.G234E CD1E_uc010pid.2_Missense_Mutation_p.G232E|CD1E_uc010pie.2_Missense_Mutation_p.G135E|CD1E_uc001fsh.3_Missense_Mutation_p.G45E|CD1E_uc001fry.3_Missense_Mutation_p.G234E|CD1E_uc001fsf.3_Missense_Mutation_p.G234E|CD1E_uc001fsg.3_Missense_Mutation_p.G45E|CD1E_uc009wsv.3_Missense_Mutation_p.G135E|CD1E_uc001fsj.3_Missense_Mutation_p.G144E|CD1E_uc001fsk.3_Missense_Mutation_p.G144E|CD1E_uc001fsa.3_Missense_Mutation_p.G45E|CD1E_uc001fsd.3_Missense_Mutation_p.G234E|CD1E_uc001frz.3_Missense_Mutation_p.G144E|CD1E_uc010pig.2_Missense_Mutation_p.G45E|CD1E_uc001fsc.3_Missense_Mutation_p.G45E|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_5'UTR NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 234 Ig-like. antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CATGTCTCAGGATTCTACCCA 0.592000 30 10 0 0 0.000978 0 0 VPS25 84313 broad.mit.edu 37 17 40928268 40928268 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:40928268C>T uc002ibi.3 + 4 388 c.348C>T c.(346-348)tcC>tcT p.S116S NM_032353 NP_115729 Q9BRG1 VPS25_HUMAN Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA. 116 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1) 5 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CACAGGTTTCCAGGAGTGGCC 0.458000 49 12 0 0 0.001368 0 0 NLRP4 147945 broad.mit.edu 37 19 56370018 56370018 + Missense_Mutation SNP G A A rs142191212 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:56370018G>A uc002qmd.4 + 2 1681 c.1259G>A c.(1258-1260)cGg>cAg p.R420Q NLRP4_uc002qmf.3_Missense_Mutation_p.R345Q|NLRP4_uc010etf.3_Missense_Mutation_p.R251Q NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 420 NACHT. ATP binding p.R420Q(2)|p.R420W(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GACGACCTCCGGAGAAATGGG 0.582000 24 29 0 0 0.002836 0 0 GK2 2712 broad.mit.edu 37 4 80327838 80327838 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:80327838G>T uc003hlu.3 - 0 1535 c.1517C>A c.(1516-1518)gCc>gAc p.A506D NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 506 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTCATTACGGCTTTCTTCCA 0.458000 53 37 4.01765e-15 5.5568e-15 0.002222 1 0 WDR90 197335 broad.mit.edu 37 16 700291 700291 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:700291T>G uc002cii.1 + 3 371 c.317T>G c.(316-318)tTc>tGc p.F106C WDR90_uc002cig.1_Missense_Mutation_p.F106C|WDR90_uc002cih.1_Missense_Mutation_p.F106C|WDR90_uc002cij.1_Non-coding_Transcript NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 106 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TCCAACCTCTTCAAGGAGTTT 0.612000 104 70 0 0 0.003610 0 0 KRT33A 3883 broad.mit.edu 37 17 39506842 39506842 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:39506842T>G uc002hwk.1 - 0 215 c.178A>C c.(178-180)Atg>Ctg p.M60L NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 60 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) AGGAACTGCATGGTCTCCTTC 0.627000 51 47 0 0 0.003610 0 0 FAM124A 220108 broad.mit.edu 37 13 51825613 51825613 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:51825613C>T uc001vff.2 + 3 386 c.218C>T c.(217-219)tCc>tTc p.S73F FAM124A_uc001vfe.3_Missense_Mutation_p.S37F|FAM124A_uc001vfg.2_Missense_Mutation_p.S37F NM_145019 NP_659456 Q86V42 F124A_HUMAN Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA. 37 p.S73S(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) GGTGAGCTTTCCGTTGAAGAG 0.522000 46 5 0 0 0.001168 0 0 FAT4 79633 broad.mit.edu 37 4 126240916 126240916 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:126240916C>T uc003ifj.4 + 0 3350 c.3350C>T c.(3349-3351)tCg>tTg p.S1117L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1117 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G1116W(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGGGCTGGGTCGTTTGTGGGC 0.388000 51 54 0 0 0.003610 0 0 PDZD2 23037 broad.mit.edu 37 5 32089224 32089224 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:32089224C>T uc003jhl.3 + 19 6058 c.5670C>T c.(5668-5670)ctC>ctT p.L1890L PDZD2_uc003jhm.3_Silent_p.L1890L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1890 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGCTCAGCCTCAAGGGCAAGG 0.552000 14 28 0 0 0.005443 0 0 OR10R2 343406 broad.mit.edu 37 1 158449913 158449913 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:158449913C>T uc010pik.2 + 0 246 c.246C>T c.(244-246)ttC>ttT p.F82F AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F82F(2)|p.F81F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TGTACTTCTTCCTTGGCATTC 0.413000 79 74 0 0 0.003610 0 0 ARSH 347527 broad.mit.edu 37 X 2942108 2942108 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:2942108C>T uc011mhj.2 + 5 948 c.948C>T c.(946-948)acC>acT p.T316T NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 316 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCAACCACACCTTGGTGTACT 0.577000 6 8 0 0 0.006214 0 0 IGSF10 285313 broad.mit.edu 37 3 151165794 151165794 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:151165794G>A uc011bod.2 - 3 1975 c.1975C>T c.(1975-1977)Caa>Taa p.Q659* NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 659 Ig-like C2-type 2. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTGAAACTTGGAAAATCAAA 0.433000 56 17 0 0 0.004007 0 0 CDS1 1040 broad.mit.edu 37 4 85562031 85562031 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:85562031C>T uc011ccv.2 + 9 1418 c.920C>T c.(919-921)cCa>cTa p.P307L CDS1_uc010ike.1_Missense_Mutation_p.P111L NM_001263 NP_001254 Q92903 CDS1_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA. 307 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TTTGTCTGCCCAGTGGAATAC 0.388000 84 24 0 0 0.005443 0 0 KEL 3792 broad.mit.edu 37 7 142640048 142640048 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:142640048G>A uc003wcb.3 - 16 2065 c.1855C>T c.(1855-1857)Cca>Tca p.P619S NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 619 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CTAGGTAATGGAAAGGCAGCA 0.547000 37 33 0 0 0.003755 0 0 LRRC17 10234 broad.mit.edu 37 7 102584759 102584759 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:102584759T>G uc003vau.3 + 3 1420 c.1031T>G c.(1030-1032)cTc>cGc p.L344R FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_3'UTR NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA. 344 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TTTTTGAAACTCTTGTGGCTC 0.373000 64 43 0 0 0.002522 0 0 PIPOX 51268 broad.mit.edu 37 17 27380467 27380468 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:27380467_27380468GG>AA uc002hdr.1 + 3 840_841 c.514_515GG>AA c.(514-516)gga>AAa p.G172K NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN Homo sapiens pipecolic acid oxidase (PIPOX), mRNA. 172 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) AGTGCGTGACGGAGAGAAGGTG 0.530000 42 15 0 0 0.004672 0 0 TRAF5 7188 broad.mit.edu 37 1 211534078 211534078 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:211534078T>A uc010psx.2 + 5 696 c.611T>A c.(610-612)gTa>gAa p.V204E TRAF5_uc001hih.3_Missense_Mutation_p.V193E|TRAF5_uc001hii.3_Missense_Mutation_p.V193E|TRAF5_uc010psy.2_Intron|TRAF5_uc001hij.3_Missense_Mutation_p.V193E NM_001033910 NP_665702 O00463 TRAF5_HUMAN Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA. 193 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) GAATACCCAGTATTTTGTCCC 0.353000 33 25 0 0 0.007291 0 0 CYTH4 27128 broad.mit.edu 37 22 37688669 37688669 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:37688669G>A uc003arf.3 + 1 143 c.27G>A c.(25-27)gcG>gcA p.A9A CYTH4_uc003ard.4_Silent_p.A9A|CYTH4_uc003are.2_Silent_p.A9A|CYTH4_uc011amw.2_5'UTR NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 9 regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 TAGAGCCCGCGGAGCTGAGCA 0.612000 36 24 0 0 0.004656 0 0 ICA1L 130026 broad.mit.edu 37 2 203680689 203680689 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:203680689G>A uc002uzh.1 - 7 892 c.728C>T c.(727-729)tCc>tTc p.S243F ICA1L_uc002uzi.1_Missense_Mutation_p.S243F|ICA1L_uc021vvi.1_Non-coding_Transcript NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA. 243 AH. p.S243P(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGAATTTGGGACATCATTCG 0.388000 103 138 0 0 0.003610 0 0 ABCA12 26154 broad.mit.edu 37 2 215890417 215890417 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:215890417G>A uc002vew.3 - 10 1487 c.1267C>T c.(1267-1269)Cct>Tct p.P423S ABCA12_uc002vev.3_Missense_Mutation_p.P105S|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 423 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.P423T(2) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGACTTCAGGAACTGGAGGA 0.299000 26 27 0 0 0.002445 0 0 TECTA 7007 broad.mit.edu 37 11 121008498 121008498 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:121008498G>A uc010rzo.2 + 9 3310 c.3310G>A c.(3310-3312)Ggc>Agc p.G1104S NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1104 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CATCGTCTCAGGCTACGGCCA 0.587000 6 5 0 0 0.000602 0 0 ZFHX3 463 broad.mit.edu 37 16 72822404 72822404 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:72822404G>A uc002fck.3 - 9 10444 c.9771C>T c.(9769-9771)ccC>ccT p.P3257P ZFHX3_uc002fcl.3_Silent_p.P2343P NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3257 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCTCCTTCTTGGGGACAGGCA 0.587000 56 43 0 0 0.002222 0 0 PDDC1 347862 broad.mit.edu 37 11 773625 773625 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:773625G>A uc001lrd.3 - 3 277 c.252C>T c.(250-252)gcC>gcT p.A84A PDDC1_uc001lrc.3_Silent_p.A84A|PDDC1_uc010qwm.2_Silent_p.A34A|PDDC1_uc001lrf.1_Intron|PDDC1_uc001lrg.1_Intron|PDDC1_uc009ycg.3_Silent_p.A34A|PDDC1_uc021qbo.1_Silent_p.A34A|PDDC1_uc010qwn.1_Non-coding_Transcript|PDDC1_uc010qwo.1_Non-coding_Transcript|PDDC1_uc010qwp.1_Intron|PDDC1_uc010qwq.1_Intron|PDDC1_uc010qwr.1_Silent_p.A84A|PDDC1_uc010qws.1_Silent_p.A34A NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Homo sapiens Parkinson disease 7 domain containing 1 (PDDC1), mRNA. 84 extracellular region kidney(1)|lung(3)|urinary_tract(1) 5 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CATGGTACCGGGCACCTGGGG 0.642000 9 7 0 0 0.004482 0 0 TAAR8 83551 broad.mit.edu 37 6 132874774 132874774 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:132874774C>T uc011ecj.2 + 0 943 c.943C>T c.(943-945)Cct>Tct p.P315S NM_053278 NP_444508 Q969N4 TAAR8_HUMAN Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA. 315 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TCTATTTTATCCTTGGTTTAG 0.333000 62 48 0 0 0.003610 0 0 TCF7L2 6934 broad.mit.edu 37 10 114905797 114905797 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:114905797G>A uc021pyi.1 + 7 1323 c.816G>A c.(814-816)acG>acA p.T272T TCF7L2_uc001lah.3_Silent_p.T249T|TCF7L2_uc010qro.2_Silent_p.T249T|TCF7L2_uc001lae.4_Silent_p.T272T|TCF7L2_uc010qrm.2_Silent_p.T272T|TCF7L2_uc010qrn.2_Silent_p.T215T|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Silent_p.T249T|TCF7L2_uc021pyj.1_Silent_p.T272T|TCF7L2_uc021pyk.1_Silent_p.T249T|TCF7L2_uc021pyl.1_Silent_p.T249T|TCF7L2_uc010qrp.2_Silent_p.T249T|TCF7L2_uc021pym.1_Silent_p.T245T|TCF7L2_uc021pyn.1_Silent_p.T272T|TCF7L2_uc021pyo.1_Silent_p.T272T|TCF7L2_uc021pyp.1_Silent_p.T268T|TCF7L2_uc010qrq.2_Silent_p.T245T|TCF7L2_uc001lac.4_Silent_p.T249T|TCF7L2_uc010qrk.2_Silent_p.T249T|TCF7L2_uc001lad.4_Silent_p.T245T|TCF7L2_uc001lag.4_Silent_p.T296T|TCF7L2_uc001laf.4_Silent_p.T249T|TCF7L2_uc010qrl.2_Silent_p.T249T|TCF7L2_uc010qrr.2_Silent_p.T187T|TCF7L2_uc010qrs.2_Silent_p.T143T|TCF7L2_uc010qrt.2_Silent_p.T143T|TCF7L2_uc010qru.2_Silent_p.T166T|TCF7L2_uc010qrv.2_Silent_p.T89T|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Silent_p.T129T NM_030756 NP_110383 Q9NQB0 TF7L2_HUMAN Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA. 272 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus PML body|beta-catenin-TCF7L2 complex|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) ACCCAATCACGACAGGAGGAT 0.517000 T VTI1A colorectal 184 120 0 0 0.003610 0 0 MYL6B 140465 broad.mit.edu 37 12 56548888 56548888 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:56548888C>T uc001sjs.3 + 3 510 c.252C>T c.(250-252)atC>atT p.I84I MYL6B_uc009zoo.3_Silent_p.I84I|MYL6B_uc001sjt.3_Silent_p.I84I NM_002475 NP_002466 P14649 MYL6B_HUMAN Homo sapiens myosin, light chain 6B, alkali, smooth muscle and non-muscle (MYL6B), transcript variant 2, mRNA. 84 EF-hand 1. muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(4) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) ATGGCAAGATCCTGTACAGCC 0.577000 50 42 0 0 0.002522 0 0 CYP2B6 1555 broad.mit.edu 37 19 41510224 41510225 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:41510224_41510225CC>TT uc002opr.1 + 2 364_365 c.357_358CC>TT c.(355-360)aaccgc>aaTTgc p.R120C CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R80C NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 120 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R120C(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CCAATGGAAACCGCTGGAAGGT 0.545000 18 4 0 0 0.004672 0 0 TNXB 7148 broad.mit.edu 37 6 32012804 32012804 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:32012804G>A uc003nzl.2 - 31 11102 c.10900C>T c.(10900-10902)Ctc>Ttc p.L3634F TNXB_uc003nzg.1_Missense_Mutation_p.L65F|TNXB_uc003nzh.1_Missense_Mutation_p.L103F NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3681 Fibronectin type-III 28. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCAGCTGAGAGGGGCCCCAGG 0.642000 67 24 0 0 0.005443 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750415 167750415 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:167750415G>A uc011bpe.1 - 8 1413 c.1069C>T c.(1069-1071)Ctt>Ttt p.L357F GOLIM4_uc003ffe.2_Missense_Mutation_p.L357F|GOLIM4_uc011bpf.1_Missense_Mutation_p.L329F|GOLIM4_uc011bpg.1_Missense_Mutation_p.L329F NM_014498 NP_055313 O00461 GOLI4_HUMAN Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA. 357 Glu-rich. transport Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCCTCCTCAAGATGTTCTGCT 0.572000 85 27 0 0 0.005443 0 0 USP53 54532 broad.mit.edu 37 4 120177660 120177660 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:120177660T>A uc003ics.4 + 7 1617 c.551T>A c.(550-552)aTt>aAt p.I184N USP53_uc003icr.4_Missense_Mutation_p.I184N|USP53_uc003icu.4_5'UTR NM_019050 NP_061923 Q70EK8 UBP53_HUMAN Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA. 184 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GTGCGGTACATTTCTACAACA 0.318000 40 41 0 0 0.003610 0 0 CCDC66 285331 broad.mit.edu 37 3 56651388 56651388 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:56651388C>T uc003dhz.3 + 13 2179 c.2092C>T c.(2092-2094)Cct>Tct p.P698S CCDC66_uc003dhy.3_Missense_Mutation_p.P334S|CCDC66_uc003dhu.3_Missense_Mutation_p.P664S|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.P66S NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA. 698 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GAAGAAATATCCTAAAAGGCC 0.348000 43 10 0 0 0.001368 0 0 BRF1 2972 broad.mit.edu 37 14 105752682 105752682 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:105752682G>A uc001yqp.2 - 1 579 c.216C>T c.(214-216)ggC>ggT p.G72G BRF1_uc010tyo.1_5'UTR|BRF1_uc010typ.1_5'UTR|BRF1_uc010axg.1_Intron|BRF1_uc001yqr.3_Silent_p.G72G NM_001519 NP_663718 Q92994 TF3B_HUMAN Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA. 72 positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) TCACGTGGAAGCCGCCACCCA 0.552000 11 12 0 0 0.002450 0 0 MXRA5 25878 broad.mit.edu 37 X 3229661 3229661 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:3229661C>T uc004crg.4 - 6 6740 c.6583G>A c.(6583-6585)Gat>Aat p.D2195N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2195 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATTCTGCTATCAAAACTACAG 0.428000 15 11 0 0 0.001368 0 0 CASR 846 broad.mit.edu 37 3 122001041 122001041 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:122001041G>A uc003eew.4 + 5 2158 c.1720G>A c.(1720-1722)Gag>Aag p.E574K CASR_uc003eev.4_Missense_Mutation_p.E564K NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 564 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTGCTGCTTTGAGTGTGTGGA 0.597000 60 14 0 0 0.004990 0 0 ZNF292 23036 broad.mit.edu 37 6 87970462 87970462 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:87970462A>G uc003plm.4 + 7 7156 c.7115A>G c.(7114-7116)aAt>aGt p.N2372S NM_015021 NP_055836 O60281 ZN292_HUMAN Homo sapiens zinc finger protein 292 (ZNF292), mRNA. 2372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AAGGCTAGAAATGATGCCCTG 0.338000 38 11 0 0 0.008291 0 0 ABHD8 79575 broad.mit.edu 37 19 17412068 17412068 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:17412068C>T uc002ngb.4 - 1 598 c.358G>A c.(358-360)Gag>Aag p.E120K NM_024527 NP_078803 Q96I13 ABHD8_HUMAN Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA. 120 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 TCTGCCAGCTCCACCTCCAGG 0.746000 8 10 0 0 0.000978 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73922530 73922530 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:73922530C>T uc003uaq.3 + 1 513 c.120C>T c.(118-120)tcC>tcT p.S40S GTF2IRD1_uc010lbq.3_Silent_p.S40S|GTF2IRD1_uc003uap.3_Silent_p.S40S|GTF2IRD1_uc003uar.1_Silent_p.S40S NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 40 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CCTTAGACTCCATGGTGAGTG 0.612000 24 26 0 0 0.002096 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17067919 17067919 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:17067919C>T uc003wxe.3 + 9 1277 c.880C>T c.(880-882)Cca>Tca p.P294S NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA. 294 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) CTGCTCCTTTCCAACTTGCCT 0.383000 35 25 0 0 0.002096 0 0 NBEA 26960 broad.mit.edu 37 13 35615185 35615185 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:35615185G>A uc021rid.1 + 1 944 c.410G>A c.(409-411)tGg>tAg p.W137* NBEA_uc021ric.1_Nonsense_Mutation_p.W137* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 137 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCAGAAATATGGAGCATGTTT 0.383000 55 64 0 0 0.003610 0 0 SLC6A18 348932 broad.mit.edu 37 5 1244843 1244843 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:1244843C>T uc003jby.2 + 10 1740 c.1617C>T c.(1615-1617)ttC>ttT p.F539F NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 539 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCTCCTGTTCTGGAAGCCAC 0.622000 30 10 0 0 0.008291 0 0 NRG3 10718 broad.mit.edu 37 10 84118593 84118593 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:84118593G>A uc021pvc.1 + 1 949 c.922G>A c.(922-924)Gaa>Aaa p.E308K NRG3_uc010qlz.1_Missense_Mutation_p.E308K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E308K|NRG3_uc001kcp.2_Missense_Mutation_p.E87K|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Missense_Mutation_p.E87K|NRG3_uc021pve.1_Missense_Mutation_p.E112K|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Missense_Mutation_p.E112K|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.E138K|NRG3_uc021pvk.1_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 308 EGF-like. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTTTGTGATCGAAACCCTGAC 0.557000 20 19 0 0 0.008871 0 0 ADAM28 10863 broad.mit.edu 37 8 24184083 24184083 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:24184083G>A uc003xdy.3 + 9 990 c.907G>A c.(907-909)Gga>Aga p.G303R ADAM28_uc003xdx.3_Missense_Mutation_p.G303R|ADAM28_uc011kzz.2_Missense_Mutation_p.G70R|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'UTR NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 303 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGAACTTGCTGGAACGACTGT 0.353000 102 30 0 0 0.001786 0 0 ABCC9 10060 broad.mit.edu 37 12 22028599 22028599 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:22028599C>T uc001rfh.3 - 14 2101 c.2081G>A c.(2080-2082)cGa>cAa p.R694Q ABCC9_uc001rfi.1_Missense_Mutation_p.R694Q NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 694 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.R694Q(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGTTGGAATTCGAATATCTAT 0.308000 48 14 0 0 0.008871 0 0 CARD14 79092 broad.mit.edu 37 17 78162266 78162266 + Missense_Mutation SNP G A A rs144570537 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:78162266G>A uc002jxw.1 + 4 960 c.766G>A c.(766-768)Gac>Aac p.D256N CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.D256N|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.D19N|CARD14_uc010dhu.1_Missense_Mutation_p.D54N NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 256 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GACAGCCAGCGACCAGGAGTC 0.592000 47 5 0 0 0.001168 0 0 SLC2A14 144195 broad.mit.edu 37 12 7966933 7966933 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:7966933C>T uc010sgh.2 - 9 1608 c.1587G>A c.(1585-1587)aaG>aaA p.K529K SLC2A14_uc001qtk.3_Silent_p.K514K|SLC2A14_uc001qtl.3_Silent_p.K491K|SLC2A14_uc001qtm.3_Silent_p.K491K|SLC2A14_uc010sgg.2_Silent_p.K405K|SLC2A14_uc001qtn.3_Silent_p.K514K|SLC2A14_uc001qto.3_Silent_p.K149K NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 514 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TGGTGGTCTCCTTAGCAGGCT 0.547000 21 60 0 0 0.003610 0 0 SLC14A1 6563 broad.mit.edu 37 18 43328349 43328349 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:43328349A>C uc010dnk.3 + 9 1345 c.1123A>C c.(1123-1125)Acg>Ccg p.T375P SLC14A1_uc002lbi.4_Missense_Mutation_p.T187P|SLC14A1_uc010xcn.2_Missense_Mutation_p.T319P|SLC14A1_uc002lbf.4_Missense_Mutation_p.T319P|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.T214P|SLC14A1_uc002lbh.4_Missense_Mutation_p.T211P|SLC14A1_uc002lbj.4_Missense_Mutation_p.T375P|SLC14A1_uc002lbk.4_Missense_Mutation_p.T319P|SLC14A1_uc021ujg.1_Silent_p.S269S NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 319 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 AGCCCTGTTCACGGCCTATCT 0.418000 69 31 0 0 0.003271 0 0 TPPP 11076 broad.mit.edu 37 5 677879 677879 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:677879G>A uc003jbg.4 - 0 1015 c.297C>T c.(295-297)gtC>gtT p.V99V TPPP_uc003jbh.4_Silent_p.V99V NM_007030 NP_008961 O94811 TPPP_HUMAN Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA. 99 Mediates interaction with LIMK1. microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) TCTTGCTGAAGACGATGTCCA 0.642000 16 18 0 0 0.001882 0 0 ENAM 10117 broad.mit.edu 37 4 71507736 71507736 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:71507736C>T uc011caw.1 + 8 874 c.593C>T c.(592-594)cCt>cTt p.P198L NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 198 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CTACAGAATCCTTACTTTGGA 0.353000 153 43 0 0 0.003610 0 0 NOS2 4843 broad.mit.edu 37 17 26096159 26096159 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:26096159G>A uc002gzu.3 - 16 2142 c.1878C>T c.(1876-1878)ctC>ctT p.L626L NOS2_uc010wab.1_Silent_p.L591L NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 626 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGCTGGAGCCGAGGCCAAACA 0.612000 7 7 0 0 0.003080 0 0 SLC2A14 144195 broad.mit.edu 37 12 7966960 7966960 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:7966960C>T uc010sgh.2 - 9 1581 c.1560G>A c.(1558-1560)atG>atA p.M520I SLC2A14_uc001qtk.3_Missense_Mutation_p.M505I|SLC2A14_uc001qtl.3_Missense_Mutation_p.M482I|SLC2A14_uc001qtm.3_Missense_Mutation_p.M482I|SLC2A14_uc010sgg.2_Missense_Mutation_p.M396I|SLC2A14_uc001qtn.3_Missense_Mutation_p.M505I|SLC2A14_uc001qto.3_Missense_Mutation_p.M140I NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 505 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TGTTCATCCCCATGACGCCGT 0.572000 46 22 0 0 0.008361 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445766 29445766 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:29445766C>T uc003aeg.3 + 7 1597 c.1597C>T c.(1597-1599)Cac>Tac p.H533Y ZNRF3_uc021wnq.1_Missense_Mutation_p.H433Y NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 533 integral to membrane zinc ion binding p.E532D(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGCTGCTATCACGGCCACCG 0.687000 6 9 0 0 0.006214 0 0 NYAP2 57624 broad.mit.edu 37 2 226447216 226447216 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:226447216G>A uc002voe.2 + 3 1258 c.1083G>A c.(1081-1083)acG>acA p.T361T NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.T131T NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 361 Pro-rich. TGGAGGTCACGAAGCTTCCCG 0.642000 5 10 0 0 0.008291 0 0 HOXB2 3212 broad.mit.edu 37 17 46622015 46622015 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:46622015G>A uc002inm.3 - 0 379 c.259C>T c.(259-261)Ccc>Tcc p.P87S NM_002145 NP_002136 P14652 HXB2_HUMAN Homo sapiens homeobox B2 (HOXB2), mRNA. 87 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 ggggcagcggggagtggcggc 0.697000 9 6 0 0 0.006214 0 0 COL2A1 1280 broad.mit.edu 37 12 48378799 48378799 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:48378799G>A uc001rqu.3 - 26 1993 c.1812C>T c.(1810-1812)ttC>ttT p.F604F COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.F535F NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 604 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TGGGGCCAGGGAAACCCATGA 0.567000 13 11 0 0 0.000978 0 0 FRMPD2 143162 broad.mit.edu 37 10 49376703 49376703 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:49376703C>T uc001jgi.3 - 26 3803 c.3472G>A c.(3472-3474)Gaa>Aaa p.E1158K FRMPD2_uc001jgh.3_Missense_Mutation_p.E1126K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E1127K|FRMPD2_uc001jgf.3_Missense_Mutation_p.E169K|FRMPD2_uc001jgg.3_Missense_Mutation_p.E110K|FRMPD2_uc001jgk.3_Missense_Mutation_p.E110K NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 1158 PDZ 3. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AGCGTGACTTCCTGTGGGGCC 0.567000 1 28 0 0 0.001786 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802181 24802182 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:24802181_24802182CC>TT uc002dmm.3 + 5 2332_2333 c.2218_2219CC>TT c.(2218-2220)cct>TTt p.P740F TNRC6A_uc010bxs.3_Missense_Mutation_p.P487F|TNRC6A_uc010vcc.1_Missense_Mutation_p.P487F|TNRC6A_uc002dmn.3_Missense_Mutation_p.P487F|TNRC6A_uc002dmo.3_Missense_Mutation_p.P487F NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA. 740 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AGAAACATCACCTAGAGGGGAA 0.470000 19 9 0 0 0.004672 0 0 CD1A 909 broad.mit.edu 37 1 158225110 158225110 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:158225110C>T uc001frt.3 + 1 828 c.295C>T c.(295-297)Cgt>Tgt p.R99C CD1A_uc021pbk.1_5'Flank NM_001763 NP_001754 P06126 CD1A_HUMAN Homo sapiens CD1a molecule (CD1A), mRNA. 99 antigen processing and presentation|immune response MHC class I protein complex|endosome membrane|integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGAGGGAATTCGTAGATACGC 0.468000 27 6 0 0 0.001984 0 0 FMN2 56776 broad.mit.edu 37 1 240370439 240370439 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:240370439G>A uc010pye.2 + 5 2564 c.2339G>A c.(2338-2340)gGa>gAa p.G780E FMN2_uc010pyd.2_Missense_Mutation_p.G776E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 776 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCTGAAAGTGGACCTCAGACA 0.572000 41 7 0 0 0.004482 0 0 WDR49 151790 broad.mit.edu 37 3 167277918 167277918 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:167277918G>A uc003fev.1 - 4 889 c.585C>T c.(583-585)atC>atT p.I195I WDR49_uc003feu.1_Silent_p.I20I|WDR49_uc011bpd.1_Silent_p.I248I|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 195 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CCATAGTGCTGATTTCTGCGT 0.458000 50 54 0 0 0.003610 0 0 IQSEC3 440073 broad.mit.edu 37 12 176580 176580 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:176580G>A uc001qhw.2 + 0 532 c.532G>A c.(532-534)Ggc>Agc p.G178S NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 178 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCTCGGCAAGGGCGTCCTGAG 0.647000 17 7 0 0 0.000978 0 0 DBX1 120237 broad.mit.edu 37 11 20178601 20178601 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:20178601C>T uc021qez.1 - 2 654 c.651G>A c.(649-651)ctG>ctA p.L217L DBX1_uc021qey.1_Silent_p.L218L NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN Homo sapiens developing brain homeobox 1 (DBX1), mRNA. 218 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 CTTTCAGGCCCAGCTTGGCCG 0.642000 50 7 0 0 0.008291 0 0 ALG6 29929 broad.mit.edu 37 1 63872018 63872018 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:63872018C>T uc021oof.1 + 5 682 c.377C>T c.(376-378)cCt>cTt p.P126L NM_013339 NP_037471 Q9Y672 ALG6_HUMAN Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA. 126 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity p.P126R(2) endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATTTACATACCTGCAGTGGTT 0.363000 42 12 0 0 0.004007 0 0 NLRP3 114548 broad.mit.edu 37 1 247588301 247588301 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:247588301G>A uc001icr.3 + 4 1694 c.1556G>A c.(1555-1557)aGc>aAc p.S519N NLRP3_uc001ics.3_Missense_Mutation_p.S519N|NLRP3_uc001icu.3_Missense_Mutation_p.S519N|NLRP3_uc001icw.3_Missense_Mutation_p.S519N|NLRP3_uc001icv.3_Missense_Mutation_p.S519N|NLRP3_uc010pyw.2_Missense_Mutation_p.S517N|NLRP3_uc001ict.1_Missense_Mutation_p.S517N NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 519 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAGTTCTACAGCTTCATCCAC 0.507000 14 26 0 0 0.007291 0 0 DNAJB6 10049 broad.mit.edu 37 7 157155859 157155859 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:157155859C>T uc003wnk.3 + 2 225 c.70C>T c.(70-72)Cgg>Tgg p.R24W DNAJB6_uc003wnj.3_Missense_Mutation_p.R24W|DNAJB6_uc003wnl.3_Missense_Mutation_p.R11W|DNAJB6_uc011kvy.2_Intron|DNAJB6_uc011kvz.2_Missense_Mutation_p.R24W|DNAJB6_uc010lqt.3_Missense_Mutation_p.R24W NM_058246 NP_490647 O75190 DNJB6_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA. 24 Interaction with HSP70.|J. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TCCAAGATATCGGAAACTGGC 0.383000 9 12 0 0 0.000978 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025191 16025191 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:16025191C>T uc002nbu.2 - 11 1357 c.1321G>A c.(1321-1323)Gac>Aac p.D441N CYP4F11_uc010eab.1_Missense_Mutation_p.R419Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.D441N NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 441 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CGGAAGGGGTCGTAGACCTGC 0.587000 73 17 0 0 0.004990 0 0 CASR 846 broad.mit.edu 37 3 121981226 121981226 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:121981226C>T uc003eew.4 + 3 1782 c.1344C>T c.(1342-1344)tcC>tcT p.S448S CASR_uc003eev.4_Silent_p.S448S NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 448 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAATGGCTCCTGTGCAGACA 0.473000 76 18 0 0 0.007413 0 0 SEC31B 25956 broad.mit.edu 37 10 102255225 102255225 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:102255225G>A uc001krc.1 - 18 2491 c.2389C>T c.(2389-2391)Ccc>Tcc p.P797S SEC31B_uc010qpo.1_Missense_Mutation_p.P796S|SEC31B_uc001krd.1_Missense_Mutation_p.P334S|SEC31B_uc001krf.1_Missense_Mutation_p.P334S|SEC31B_uc001kre.1_Missense_Mutation_p.P334S|SEC31B_uc001krg.1_Missense_Mutation_p.P366S NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA. 797 protein transport|vesicle-mediated transport ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane p.P797R(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CGGGGGAAGGGGAAAGGGGGA 0.493000 19 16 0 0 0.006122 0 0 ELAC2 60528 broad.mit.edu 37 17 12899064 12899064 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:12899064G>A uc002gnz.4 - 18 1881 c.1764C>T c.(1762-1764)ctC>ctT p.L588L ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.L216L|ELAC2_uc002gnx.4_Silent_p.L348L|ELAC2_uc010vvo.2_Silent_p.L386L|ELAC2_uc010vvp.2_Silent_p.L569L|ELAC2_uc010vvq.2_Silent_p.L587L|ELAC2_uc010vvr.2_Silent_p.L548L NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 588 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GGTACTGCTGGAGCCAGGCTT 0.592000 12 9 0 0 0.006214 0 0 OR52A1 23538 broad.mit.edu 37 11 5173160 5173160 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5173160C>T uc010qyy.2 - 0 440 c.440G>A c.(439-441)gGa>gAa p.G147E NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 147 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACCATAGTTCCTATCTGAAT 0.488000 21 28 0 0 0.007291 0 0 CARD8 22900 broad.mit.edu 37 19 48733884 48733884 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:48733884G>A uc010xzj.2 - 6 889 c.846C>T c.(844-846)gcC>gcT p.A282A CARD8_uc002pii.4_Silent_p.A282A|CARD8_uc010xzi.1_Silent_p.A177A|CARD8_uc010els.3_Silent_p.A215A|CARD8_uc010xzk.2_Silent_p.A201A|CARD8_uc002pie.4_Silent_p.A176A|CARD8_uc002pif.4_Silent_p.A176A|CARD8_uc021uwq.1_Silent_p.A176A|CARD8_uc021uwr.1_Silent_p.A176A|CARD8_uc002pig.4_Silent_p.A7A|CARD8_uc002pih.4_Silent_p.A232A|CARD8_uc010xzl.2_Silent_p.A232A|CARD8_uc010xzm.2_Silent_p.A282A NM_001184900 NP_001171829 Q9Y2G2 CARD8_HUMAN Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA. 176 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus NACHT domain binding|caspase activator activity|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) GCTCCACCCGGGCTGGATGCT 0.577000 22 68 0 0 0.003610 0 0 SERPINB8 5271 broad.mit.edu 37 18 61650953 61650953 + Missense_Mutation SNP G A A rs146695124 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:61650953G>A uc002ljv.3 + 4 734 c.565G>A c.(565-567)Gag>Aag p.E189K SERPINB8_uc002ljt.3_Missense_Mutation_p.E189K|SERPINB8_uc002lju.3_Missense_Mutation_p.E189K|SERPINB8_uc010xex.2_Missense_Mutation_p.E7K NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 189 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity p.E189V(1) breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TAAAACCAACGAGGTAGGGAA 0.343000 41 8 0 0 0.004482 0 0 FAT3 120114 broad.mit.edu 37 11 92531893 92531893 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:92531893T>C uc001pdj.4 + 8 5731 c.5714T>C c.(5713-5715)gTt>gCt p.V1905A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1905 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTTCTGAAAGTTAGTGCCACA 0.433000 TCGA Ovarian(4;0.039) 17 243 0 0 0.003610 0 0 OR4K15 81127 broad.mit.edu 37 14 20444368 20444368 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20444368T>C uc010tkx.2 + 0 691 c.691T>C c.(691-693)Tct>Cct p.S231P NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA. 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGCTTTCTTTCTCTGAGTTC 0.448000 64 57 0 0 0.003610 0 0 ZNF570 148268 broad.mit.edu 37 19 37975998 37975998 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:37975998C>T uc010efl.1 + 5 1761 c.1642C>T c.(1642-1644)Cat>Tat p.H548Y ZNF570_uc002ogk.1_Missense_Mutation_p.H492Y|ZNF570_uc010xtr.1_Missense_Mutation_p.H289Y NM_144694 NP_653295 Q96NI8 ZN570_HUMAN Homo sapiens zinc finger protein 570 (ZNF570), mRNA. 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGAATTCATACTGGAGA 0.433000 33 29 0 0 0.008361 0 0 CFH 3075 broad.mit.edu 37 1 196646648 196646648 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:196646648T>G uc001gtj.4 + 4 710 c.470T>G c.(469-471)aTt>aGt p.I157S CFH_uc001gti.4_Missense_Mutation_p.I157S|CFH_uc009wyw.3_Missense_Mutation_p.I157S|CFH_uc009wyx.3_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 157 Sushi 3. 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 AATGGAAAAATTGTCAGTAGT 0.353000 26 29 0 0 0.008361 0 0 MYLK3 91807 broad.mit.edu 37 16 46771661 46771661 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:46771661C>T uc002eei.4 - 2 1079 c.963G>A c.(961-963)caG>caA p.Q321Q MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 321 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTGCCCTGGCCTGGGCTGGCA 0.667000 30 11 0 0 0.001368 0 0 CNTROB 116840 broad.mit.edu 37 17 7839764 7839765 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7839764_7839765CC>TT uc002gjp.3 + 5 1625_1626 c.675_676CC>TT c.(673-678)gaccgc>gaTTgc p.R226C CNTROB_uc002gjq.3_Missense_Mutation_p.R226C|CNTROB_uc002gjr.3_Missense_Mutation_p.R128C|CNTROB_uc010vum.1_5'Flank NM_001037144 NP_001032221 Q8N137 CNTRB_HUMAN Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA. 226 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) TGGCTGCCGACCGCAAGAAAGA 0.490000 57 13 0 0 0.004672 0 0 SH3TC1 54436 broad.mit.edu 37 4 8214498 8214498 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:8214498C>T uc003gkv.4 + 3 419 c.318C>T c.(316-318)ctC>ctT p.L106L SH3TC1_uc003gkw.4_Silent_p.L30L|SH3TC1_uc003gkx.4_Non-coding_Transcript NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 106 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 AGCAGACCCTCCGGGGCCAGC 0.677000 6 5 0 0 0.001984 0 0 RCAN2 10231 broad.mit.edu 37 6 46190989 46190989 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:46190989G>A uc003oyc.2 - 4 774 c.621C>T c.(619-621)gtC>gtT p.V207V RCAN2_uc003oyb.2_Silent_p.V161V|RCAN2_uc003oyd.2_Silent_p.V207V NM_001251974 NP_001238903 Q14206 RCAN2_HUMAN Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA. 161 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ACACGTGCACGACGACACTTG 0.522000 114 39 0 0 0.002522 0 0 RSPH1 89765 broad.mit.edu 37 21 43897548 43897548 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:43897548C>T uc002zbg.3 - 6 685 c.580G>A c.(580-582)Gga>Aga p.G194R NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA. 194 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TCCTCTTCTCCTCTTTCCTAT 0.393000 32 18 0 0 0.002299 0 0 KIF19 124602 broad.mit.edu 37 17 72347046 72347046 + Splice_Site SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:72347046T>G uc002jkm.4 + 12 1725 c.1587_splice c.e12+2 p.K529_splice KIF19_uc002jkj.2_Missense_Mutation_p.V530G|KIF19_uc002jkk.2_Missense_Mutation_p.V488G|KIF19_uc002jkl.2_Splice_Site_p.K487_splice NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN Homo sapiens kinesin family member 19 (KIF19), mRNA. 529 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 AAGCAGAAGGTGTCCAGGGTT 0.637000 75 7 0 0 0.003080 0 0 HIST1H3J 8356 broad.mit.edu 37 6 27858434 27858434 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:27858434G>A uc003nka.3 - 0 137 c.137C>T c.(136-138)aCc>aTc p.T46I HIST1H2BO_uc003nkc.1_5'Flank NM_003535 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA. 46 S phase|blood coagulation|nucleosome assembly|regulation of gene silencing nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 8 CAAGGCCACGGTGCCTGGCCT 0.632000 54 10 0 0 0.008291 0 0 NR5A2 2494 broad.mit.edu 37 1 200080416 200080416 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:200080416G>A uc001gvb.3 + 5 1403 c.1197G>A c.(1195-1197)aaG>aaA p.K399K NR5A2_uc001gvc.3_Silent_p.K353K|NR5A2_uc009wzh.3_Silent_p.K359K|NR5A2_uc010pph.2_Silent_p.K327K NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 399 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TACATGGAAAGGAAGGATCCA 0.408000 25 21 0 0 0.002299 0 0 PSMB8 5696 broad.mit.edu 37 6 32809442 32809442 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:32809442C>T uc003oce.3 - 4 651 c.608G>A c.(607-609)gGg>gAg p.G203E TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.G199E|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank NM_148919 NP_683720 P28062 PSB8_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA. 203 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|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 ATAAGTGTTCCCACTACCCGT 0.502000 109 63 0 0 0.003610 0 0 TEX11 56159 broad.mit.edu 37 X 69945116 69945116 + Silent SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:69945116A>G uc004dyl.3 - 12 1128 c.966T>C c.(964-966)ctT>ctC p.L322L TEX11_uc004dyk.3_5'Flank|TEX11_uc004dym.3_Silent_p.L307L NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA. 322 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCATACCTTCAAGGAGTTCTT 0.308000 3 57 0 0 0.003610 0 0 FILIP1 27145 broad.mit.edu 37 6 76022779 76022779 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:76022779C>T uc010kbe.3 - 5 3308 c.2778G>A c.(2776-2778)gcG>gcA p.A926A FILIP1_uc003phy.1_Silent_p.A923A|FILIP1_uc003phz.3_Silent_p.A824A|FILIP1_uc003pia.3_Silent_p.A923A|FILIP1_uc003pib.1_Silent_p.A675A NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 923 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTCCAAAGTCGCAGTGCTGT 0.473000 58 35 0 0 0.006999 0 0 PURB 5814 broad.mit.edu 37 7 44924288 44924288 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:44924288C>T uc003tme.3 - 0 673 c.660G>A c.(658-660)ccG>ccA p.P220P NM_033224 NP_150093 Q96QR8 PURB_HUMAN Homo sapiens purine-rich element binding protein B (PURB), mRNA. 220 Gly-rich. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 AGGTGCCCTCCGGGAGCTCTC 0.662000 34 18 0 0 0.008871 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769798 112769799 + Missense_Mutation DNP CC GT GT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:112769798_112769799CC>GT uc003kqm.2 - 0 930_931 c.738_739GG>AC c.(736-741)aaggac>aaACac p.D247H MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 247 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TAGATGAGGTCCTTGCACTCGC 0.604000 26 5 0 0 0.004672 0 0 C2CD3 26005 broad.mit.edu 37 11 73753138 73753138 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:73753138G>A uc001ouu.2 - 28 5848 c.5621C>T c.(5620-5622)tCa>tTa p.S1874L C2CD3_uc001out.3_Non-coding_Transcript NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 1874 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GGACAAAGGTGATGTGGTCAG 0.493000 66 16 0 0 0.003163 0 0 HMCN1 83872 broad.mit.edu 37 1 186064617 186064617 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:186064617G>A uc001grq.1 + 67 10766 c.10537G>A c.(10537-10539)Gga>Aga p.G3513R MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3513 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AAATGAAGCTGGAGAAGTCAG 0.428000 32 19 0 0 0.001882 0 0 PRB2 653247 broad.mit.edu 37 12 11546390 11546390 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:11546390C>T uc010shk.1 - 2 657 c.622G>A c.(622-624)Gga>Aga p.G208R NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTTGCCTCCTTGTGGGGGT 0.597000 64 37 0 0 0.003610 0 0 SMOC2 64094 broad.mit.edu 37 6 168927051 168927051 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:168927051G>A uc003qwr.2 + 2 502 c.282G>A c.(280-282)agG>agA p.R94R SMOC2_uc003qws.2_Silent_p.R94R NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA. 94 Thyroglobulin type-1 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TGGCCGAAAGGAAGTATACCC 0.507000 18 14 0 0 0.006122 0 0 ECE1 1889 broad.mit.edu 37 1 21562382 21562382 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:21562382G>A uc001bek.2 - 12 1602 c.1527C>T c.(1525-1527)ttC>ttT p.F509F ECE1_uc001bem.2_Silent_p.F493F|ECE1_uc001bej.2_Silent_p.F497F|ECE1_uc001bei.2_Silent_p.F506F|ECE1_uc010odl.1_Silent_p.F509F|ECE1_uc009vqa.1_Silent_p.F509F NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 509 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GATCCATGATGAAGTTGGGGT 0.552000 64 17 0 0 0.001882 0 0 CRHR1 1394 broad.mit.edu 37 17 43907558 43907558 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:43907558C>T uc010dap.3 + 6 885 c.620C>T c.(619-621)cCc>cTc p.P207L CRHR1_uc010wjx.2_Missense_Mutation_p.P3L|CRHR1_uc002ijp.3_Missense_Mutation_p.P77L|CRHR1_uc002ijm.3_Missense_Mutation_p.P178L|CRHR1_uc002ijn.3_Missense_Mutation_p.P138L|CRHR1_uc010dar.3_Missense_Mutation_p.P178L|CRHR1_uc010dao.3_Missense_Mutation_p.P77L|CRHR1_uc010daq.3_Missense_Mutation_p.P3L|CRHR1_uc021tyu.1_Missense_Mutation_p.P3L|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 207 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACCATGAGCCCCGAGGTCCAC 0.642000 15 7 0 0 0.001984 0 0 PDGFC 56034 broad.mit.edu 37 4 157732075 157732075 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:157732075C>T uc003iph.2 - 2 900 c.409G>A c.(409-411)Gga>Aga p.G137R PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_5'UTR|PDGFC_uc011cir.2_Intron NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA. 137 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATTTGATTTCCTTTAGAAATC 0.393000 29 30 0 0 0.008361 0 0 PPRC1 23082 broad.mit.edu 37 10 103899829 103899829 + Silent SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:103899829C>A uc001kum.3 + 4 1603 c.1564C>A c.(1564-1566)Cgg>Agg p.R522R PPRC1_uc001kun.3_Silent_p.R402R|PPRC1_uc010qqj.2_Silent_p.R522R|PPRC1_uc009xxa.3_Non-coding_Transcript NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGGGAAGCCCCGGGCTTGGGC 0.537000 43 34 5.73237e-09 7.903e-09 0.006230 1 0 GABRB2 2561 broad.mit.edu 37 5 160761766 160761766 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:160761766C>T uc003lys.1 - 7 1043 c.825G>A c.(823-825)gtG>gtA p.V275V GABRB2_uc011deh.1_Silent_p.V114V|GABRB2_uc003lyr.1_Silent_p.V275V|GABRB2_uc003lyt.1_Silent_p.V275V|GABRB2_uc021yhg.1_Silent_p.V212V NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 275 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TACCTAATGCCACCCTTGCAG 0.438000 16 22 0 0 0.002780 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98355379 98355379 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:98355379C>T uc001kmq.3 - 16 2501 c.2373G>A c.(2371-2373)agG>agA p.R791R PIK3AP1_uc001kmo.3_Silent_p.R390R|PIK3AP1_uc001kmp.3_Silent_p.R613R NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 791 Pro-rich. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GGAAGGTCTCCCTGGTCGGAG 0.433000 44 36 0 0 0.004878 0 0 PSG5 5673 broad.mit.edu 37 19 43680079 43680079 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:43680079C>T uc002ovu.3 - 2 783 c.652G>A c.(652-654)Gaa>Aaa p.E218K PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E218K NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 218 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCCCGTATTTCACATTCATAG 0.517000 98 32 0 0 0.002222 0 0 MAEL 84944 broad.mit.edu 37 1 166974589 166974589 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:166974589G>A uc001gdy.1 + 7 871 c.800G>A c.(799-801)cGa>cAa p.R267Q MAEL_uc021peh.1_Missense_Mutation_p.R211Q|MAEL_uc001gdz.1_Missense_Mutation_p.R236Q|MAEL_uc009wvf.1_Non-coding_Transcript NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 267 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding p.R267*(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 ACTTGGATTCGAAGCCTCCTA 0.403000 44 17 0 0 0.004007 0 0 CYLC1 1538 broad.mit.edu 37 X 83126557 83126557 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:83126557G>A uc004eei.1 + 2 177 c.156G>A c.(154-156)ttG>ttA p.L52L CYLC1_uc004eeh.1_Silent_p.L51L NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 52 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 CAAGACCTTTGAAATCACAAA 0.299000 2 33 0 0 0.004289 0 0 OR4N4 283694 broad.mit.edu 37 15 22382676 22382676 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:22382676C>T uc001yuc.1 + 6 1185 c.204C>T c.(202-204)ttC>ttT p.F68F abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACTTGGCCTTCCTGGATGCAT 0.483000 101 12 0 0 0.004656 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413779 22413779 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:22413779C>T uc001yuf.3 + 0 318 c.78C>T c.(76-78)ttC>ttT p.F26F abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TCTTGCACTTCCTTGGAGGAG 0.493000 73 15 0 0 0.002299 0 0 CRYZ 1429 broad.mit.edu 37 1 75172857 75172857 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:75172857A>G uc001dgk.3 - 7 1167 c.662T>C c.(661-663)aTt>aCt p.I221T CRYZ_uc001dgj.3_Missense_Mutation_p.I221T|CRYZ_uc001dgl.3_Intron|CRYZ_uc001dgm.3_Missense_Mutation_p.I84T NM_001130042 NP_001880 Q08257 QOR_HUMAN Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA. 221 protein homotetramerization|visual perception|xenobiotic catabolic process Golgi apparatus|cytosol NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) CATTTCAATAATTATATCAAT 0.284000 59 27 0 0 0.001786 0 0 FREM1 158326 broad.mit.edu 37 9 14748452 14748452 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:14748452C>T uc003zlm.3 - 31 6559 c.5743G>A c.(5743-5745)Gat>Aat p.D1915N FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.D451N NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1915 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCTGTAGAATCAAAGCCCCGC 0.468000 0 20 0 0 0.007413 0 0 OR51M1 390059 broad.mit.edu 37 11 5410987 5410987 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5410987C>T uc010qzc.2 + 0 381 c.359C>T c.(358-360)tCc>tTc p.S120F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 120 integral to membrane olfactory receptor activity p.S120S(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTCTTTTTCCTTCATGGAG 0.502000 116 97 0 0 0.003610 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517294 140517294 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140517294G>A uc003liq.3 + 0 2495 c.2278G>A c.(2278-2280)Gcc>Acc p.A760T NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 760 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGACTCAGGGGCCGGCGAGTT 0.587000 63 29 0 0 0.002096 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965926 35965926 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:35965926C>T uc003jjv.2 - 3 598 c.405G>A c.(403-405)aaG>aaA p.K135K UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.K135K|UGT3A1_uc011cor.2_Silent_p.K101K|UGT3A1_uc003jjy.2_Silent_p.K81K NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 135 integral to membrane glucuronosyltransferase activity p.L134I(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTTCTCATTCTTTAAGGAAT 0.358000 32 19 0 0 0.007413 0 0 FLNC 2318 broad.mit.edu 37 7 128481303 128481303 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:128481303G>A uc003vnz.4 + 11 2102 c.1893G>A c.(1891-1893)tgG>tgA p.W631* FLNC_uc003voa.4_Nonsense_Mutation_p.W631* NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 631 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGCGGTACTGGCCCACGGAGC 0.627000 43 44 0 0 0.003610 0 0 PEX5L 51555 broad.mit.edu 37 3 179537748 179537748 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:179537748C>T uc003fki.1 - 8 969 c.839G>A c.(838-840)tGg>tAg p.W280* PEX5L_uc011bqd.1_Nonsense_Mutation_p.W237*|PEX5L_uc011bqe.1_Nonsense_Mutation_p.W88*|PEX5L_uc011bqf.1_Nonsense_Mutation_p.W172*|PEX5L_uc003fkj.1_Nonsense_Mutation_p.W245*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.W278*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.W256*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.W221* NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA. 280 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CATCTTATCCCAAAACTCTGT 0.433000 50 12 0 0 0.001855 0 0 HPS6 79803 broad.mit.edu 37 10 103827536 103827536 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:103827536C>T uc001kuj.3 + 0 2413 c.2305C>T c.(2305-2307)Ccg>Tcg p.P769S NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. 769 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CACTCCACCCCCGACTCCACC 0.597000 Hermansky-Pudlak syndrome 20 18 0 0 0.001523 0 0 A1CF 29974 broad.mit.edu 37 10 52587988 52587988 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:52587988T>A uc001jjj.3 - 6 860 c.672A>T c.(670-672)gaA>gaT p.E224D A1CF_uc010qho.2_Missense_Mutation_p.E232D|A1CF_uc010qhn.2_Missense_Mutation_p.E232D|A1CF_uc009xov.3_Missense_Mutation_p.E224D|A1CF_uc001jji.3_Missense_Mutation_p.E224D|A1CF_uc001jjh.3_Missense_Mutation_p.E232D NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 224 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 ACATTGTATCTTCATCAACTT 0.353000 50 34 0 0 0.002445 0 0 GPR158 57512 broad.mit.edu 37 10 25464474 25464474 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:25464474G>A uc001isj.3 + 0 185 c.125G>A c.(124-126)gGg>gAg p.G42E LOC100128811_uc010qde.1_Intron NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 42 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 ACCCCGAAGGGGAAGCCGCAC 0.692000 18 9 0 0 0.004482 0 0 KHDC1L 100129128 broad.mit.edu 37 6 73935035 73935035 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:73935035C>T uc003pgm.4 - 0 141 c.97G>A c.(97-99)Gag>Aag p.E33K KHDC1_uc011dyl.1_Non-coding_Transcript NM_001126063 NP_001119535 Q5JSQ8 KHDCL_HUMAN Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA. 33 breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1) 7 ATGAGCTCCTCCTGGTCCTCT 0.512000 11 5 0 0 0.000602 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1963203 1963203 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:1963203C>T uc021qsx.1 - 22 2391 c.2160G>A c.(2158-2160)gaG>gaA p.E720E CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.E584E|CACNA2D4_uc009zdr.2_Non-coding_Transcript NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 720 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGACCAGCTCCTCGTCACCTG 0.572000 12 4 0 0 0.000248 0 0 PLA1A 51365 broad.mit.edu 37 3 119343987 119343987 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:119343987G>A uc003ecu.3 + 8 1095 c.1029G>A c.(1027-1029)gtG>gtA p.V343V PLA1A_uc003ecv.3_Silent_p.V327V|PLA1A_uc011bjc.2_Silent_p.V170V|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 343 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity p.V343L(1) NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACAGCCTCGTGGAGTTTCACT 0.488000 21 13 0 0 0.001855 0 0 ABCC6 368 broad.mit.edu 37 16 16267254 16267254 + Nonsense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:16267254T>A uc002den.4 - 20 2711 c.2674A>T c.(2674-2676)Aag>Tag p.K892* ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 892 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGGACTGACTTGATGGACCTG 0.537000 28 30 0 0 0.002836 0 0 GRM6 2916 broad.mit.edu 37 5 178419001 178419001 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:178419001G>A uc003mjr.3 - 1 767 c.588C>T c.(586-588)ccC>ccT p.P196P GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 196 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGTAGGAGTCGGGTGGCACCA 0.622000 13 6 0 0 0.001168 0 0 ADAM9 8754 broad.mit.edu 37 8 38899581 38899581 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:38899581C>T uc003xmr.3 + 11 1325 c.1247C>T c.(1246-1248)tCc>tTc p.S416F ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript NM_003816 NP_003807 Q13443 ADAM9_HUMAN Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA. 416 Disintegrin. PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding p.P415L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AGTGCTCCCTCCTGTGGTAAT 0.413000 36 49 0 0 0.003610 0 0 ELP3 55140 broad.mit.edu 37 8 27995239 27995239 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:27995239C>T uc003xgo.4 + 9 1079 c.931C>T c.(931-933)Cgt>Tgt p.R311C ELP3_uc003xgn.4_Missense_Mutation_p.R296C|ELP3_uc011las.2_Missense_Mutation_p.R192C|ELP3_uc011lat.2_Missense_Mutation_p.R192C|ELP3_uc011laq.2_Missense_Mutation_p.R239C|ELP3_uc011lar.2_Missense_Mutation_p.R219C NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 311 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CCCTGCTTTTCGTCCCGATGG 0.453000 33 28 0 0 0.002096 0 0 TTN 7273 broad.mit.edu 37 2 179436312 179436313 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179436312_179436313CC>TT uc021vsy.1 - 274 67067_67068 c.66842_66843GG>AA c.(66841-66843)cgg>cAA p.R22281Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15976Q|TTN_uc021vta.1_Missense_Mutation_p.R15909Q|TTN_uc021vtb.1_Missense_Mutation_p.R15784Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23208 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I22280T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGAAGTGTCCCGTTTCTCAAC 0.411000 11 10 0 0 0.004672 0 0 CEP97 79598 broad.mit.edu 37 3 101476030 101476030 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:101476030C>T uc003dvk.1 + 7 1044 c.1017C>T c.(1015-1017)tcC>tcT p.S339S CEP97_uc010hpm.1_Silent_p.S305S|CEP97_uc011bhf.1_Silent_p.S339S|CEP97_uc003dvl.1_Silent_p.S35S|CEP97_uc003dvm.1_Silent_p.S177S NM_024548 NP_078824 Q8IW35 CEP97_HUMAN Homo sapiens centrosomal protein 97kDa (CEP97), mRNA. 339 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GCCAGATATCCCAGGAAAGTG 0.388000 53 13 0 0 0.002450 0 0 SPAG17 200162 broad.mit.edu 37 1 118624213 118624213 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:118624213C>T uc001ehk.2 - 13 1883 c.1815G>A c.(1813-1815)gaG>gaA p.E605E SPAG17_uc021oss.1_5'Flank NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 605 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTTCAGGCTCTCAAAAGTAA 0.438000 419 13 0 0 0.003163 0 0 NFATC1 4772 broad.mit.edu 37 18 77170930 77170930 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:77170930G>A uc010xfg.2 + 1 1108 c.655G>A c.(655-657)Gag>Aag p.E219K NFATC1_uc002lnc.1_Missense_Mutation_p.E219K|NFATC1_uc010xff.1_Missense_Mutation_p.E219K|NFATC1_uc002lnd.3_Missense_Mutation_p.E219K|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.E219K|NFATC1_uc010xfi.1_Missense_Mutation_p.E206K|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.E206K|NFATC1_uc002lng.3_Missense_Mutation_p.E206K|NFATC1_uc010xfk.2_Missense_Mutation_p.E206K NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 219 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GGACCCCGAGGAGGGCTTTCC 0.701000 14 18 0 0 0.007413 0 0 EMR3 84658 broad.mit.edu 37 19 14744099 14744099 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:14744099C>T uc002mzi.4 - 11 1648 c.1500G>A c.(1498-1500)ctG>ctA p.L500L EMR3_uc010dzp.3_Silent_p.L448L|EMR3_uc010xnv.2_Silent_p.L374L NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 500 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 ATCCCTGGTCCAGGTGGAGCC 0.463000 8 5 0 0 0.000602 0 0 TMC7 79905 broad.mit.edu 37 16 19033066 19033066 + Silent SNP G A A rs111625310 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:19033066G>A uc002dfp.2 + 3 706 c.576G>A c.(574-576)acG>acA p.T192T TMC7_uc010vao.1_Silent_p.T192T|TMC7_uc002dfq.3_Silent_p.T192T|TMC7_uc010vap.2_Silent_p.T82T NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 192 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TCTTACTCACGAAATACAAGA 0.418000 25 28 0 0 0.005443 0 0 MYO5A 4644 broad.mit.edu 37 15 52664450 52664450 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:52664450G>A uc002aby.2 - 20 2932 c.2688C>T c.(2686-2688)ttC>ttT p.F896F MYO5A_uc002abx.3_Silent_p.F896F|MYO5A_uc010uge.1_Silent_p.F765F NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA. 896 IQ 6. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCATCCGCCTGAAGCAGCACT 0.537000 34 19 0 0 0.001882 0 0 XDH 7498 broad.mit.edu 37 2 31573069 31573069 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:31573069G>A uc002rnv.1 - 24 2731 c.2652C>T c.(2650-2652)ttC>ttT p.F884F NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 884 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGTCCATGTGGAATAAAGCTC 0.507000 34 20 0 0 0.003330 0 0 FETUB 26998 broad.mit.edu 37 3 186370277 186370277 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:186370277G>A uc010hyq.3 + 7 1267 c.1006G>A c.(1006-1008)Gga>Aga p.G336R FETUB_uc011brz.2_Missense_Mutation_p.G188R|FETUB_uc003fqn.3_Missense_Mutation_p.G336R|FETUB_uc010hyr.3_Missense_Mutation_p.G299R|FETUB_uc010hys.3_Missense_Mutation_p.G188R|FETUB_uc003fqp.4_Missense_Mutation_p.G271R NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN Homo sapiens fetuin B (FETUB), mRNA. 336 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GAATCCCCAGGGAGAAACCCT 0.517000 47 46 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100683924 100683924 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100683924C>T uc003uxp.1 + 2 9280 c.9227C>T c.(9226-9228)cCt>cTt p.P3076L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3076 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S3075C(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCAACAGTCCTGTGGTCACT 0.478000 159 146 0 0 0.003610 0 0 AGPS 8540 broad.mit.edu 37 2 178299132 178299132 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:178299132A>C uc002ull.2 + 2 475 c.428A>C c.(427-429)aAa>aCa p.K143T AGPS_uc010zfb.1_Missense_Mutation_p.K53T NM_003659 NP_003650 O00116 ADAS_HUMAN Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA. 143 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GTGGAGCATAAAACTACCTCT 0.289000 13 19 0 0 0.002780 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581615 140581615 + Silent SNP G A A rs148762649 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140581615G>A uc003liy.3 + 0 2268 c.2268G>A c.(2266-2268)acG>acA p.T756T NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 756 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTGTCTGACGGGAGGTTCCG 0.527000 29 42 0 0 0.002222 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454777 84454777 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:84454777G>A uc001vlk.3 - 0 1752 c.866C>T c.(865-867)cCt>cTt p.P289L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 289 integral to membrane p.P289H(2)|p.P289L(2) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTCTTGAAAGGAGTTGGCAG 0.537000 31 14 0 0 0.002450 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18716344 18716344 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:18716344G>A uc001rdt.3 + 26 3807 c.3691G>A c.(3691-3693)Gaa>Aaa p.E1231K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1231 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CAGCAACAACGAAACAAGCCT 0.418000 11 11 0 0 0.008291 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798031 7798031 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:7798031C>T uc001aoi.3 + 15 3878 c.3671C>T c.(3670-3672)cCt>cTt p.P1224L CAMTA1_uc010nzv.1_Missense_Mutation_p.P311L|CAMTA1_uc001aok.4_Missense_Mutation_p.P267L|CAMTA1_uc001aoj.3_Missense_Mutation_p.P180L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 1224 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding 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) CTGAGAAGACCTCGTTCTGAA 0.438000 T WWTR1 epitheliod hemangioendothelioma 48 14 0 0 0.003163 0 0 OR10H4 126541 broad.mit.edu 37 19 16060239 16060239 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:16060239A>C uc010xov.2 + 0 422 c.422A>C c.(421-423)gAc>gCc p.D141A NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 AGCCCCCGTGACTGTGCCCAT 0.537000 45 26 0 0 0.006320 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028295 45028295 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:45028295C>T uc010ejn.1 - 3 213 c.197_splice c.e3-1 p.E66_splice CEACAM20_uc010ejo.1_Splice_Site_p.E66_splice|CEACAM20_uc010ejp.1_Splice_Site_p.E66_splice|CEACAM20_uc010ejq.1_Splice_Site_p.E66_splice NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 66 Ig-like C2-type 1. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TTGGCCAGCTCTGAAAGCAAG 0.507000 64 174 0 0 0.003610 0 0 SYNM 23336 broad.mit.edu 37 15 99670365 99670365 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:99670365G>A uc002bup.3 + 4 1917 c.1797G>A c.(1795-1797)gtG>gtA p.V599V SYNM_uc002buo.3_Silent_p.V599V|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 600 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 AGACGCCTGTGAAGGATGCTG 0.562000 22 21 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9028394 9028394 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:9028394G>A uc002mkp.3 - 10 36602 c.36398C>T c.(36397-36399)cCa>cTa p.P12133L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12135 SEA 1. 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 ATCCTTCTCTGGCCTGGGTAA 0.527000 39 19 0 0 0.004656 0 0 MYO18B 84700 broad.mit.edu 37 22 26422687 26422687 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:26422687C>T uc003abz.1 + 42 6997 c.6747C>T c.(6745-6747)gcC>gcT p.A2249A MYO18B_uc003aca.1_Silent_p.A2130A|MYO18B_uc010guy.1_Silent_p.A2131A|MYO18B_uc010guz.1_Silent_p.A2129A|MYO18B_uc011aka.1_Silent_p.A1403A|MYO18B_uc011akb.1_Silent_p.A1762A|MYO18B_uc010gva.1_Silent_p.A232A|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2249 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.S2248L(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTTCAGCGGCCCTCTCGGAGT 0.602000 9 12 0 0 0.002450 0 0 XPO6 23214 broad.mit.edu 37 16 28118941 28118941 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:28118941G>A uc002dpa.1 - 17 2900 c.2399C>T c.(2398-2400)tCg>tTg p.S800L XPO6_uc002dpb.1_Missense_Mutation_p.S786L|XPO6_uc010vcp.1_Missense_Mutation_p.S800L NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 800 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 GGACTCCCCCGAGATATTCTC 0.488000 35 27 0 0 0.006320 0 0 SYNE1 23345 broad.mit.edu 37 6 152647157 152647157 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:152647157G>A uc021zhb.1 - 77 15597 c.15374C>T c.(15373-15375)tCt>tTt p.S5125F SYNE1_uc003qot.4_Missense_Mutation_p.S5054F|SYNE1_uc003qou.4_Missense_Mutation_p.S5125F|SYNE1_uc010kiz.3_Missense_Mutation_p.S880F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 5125 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.L5124*(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGAAAACTCAGACAATTTCTT 0.368000 HNSCC(10;0.0054) 35 21 0 0 0.001523 0 0 HOXA3 3200 broad.mit.edu 37 7 27150227 27150227 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:27150227C>T uc011jzl.2 - 1 233 c.33G>A c.(31-33)gcG>gcA p.A11A HOXA3_uc003syk.3_Silent_p.A11A NM_030661 NP_705895 O43365 HXA3_HUMAN Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA. 11 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CACCGTAGATCGCCGAGCTGT 0.602000 36 41 0 0 0.003610 0 0 CD4 920 broad.mit.edu 37 12 6909577 6909577 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:6909577C>T uc001qqv.2 + 2 412 c.154C>T c.(154-156)Cac>Tac p.H52Y CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron NM_000616 NP_000607 P01730 CD4_HUMAN Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA. 52 Ig-like V-type. T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) CATACAATTCCACTGGAAAAA 0.498000 17 16 0 0 0.004007 0 0 OR52H1 390067 broad.mit.edu 37 11 5565796 5565796 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5565796C>T uc010qzh.2 - 0 958 c.958G>A c.(958-960)Gga>Aga p.G320R HBG1_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA. 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAACATCATCCTGTACCCTTA 0.378000 31 28 0 0 0.005443 0 0 ADH1B 125 broad.mit.edu 37 4 100239230 100239230 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:100239230C>T uc003hus.4 - 2 316 c.232G>A c.(232-234)Gga>Aga p.G78R ADH1B_uc003hut.4_Missense_Mutation_p.G38R|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.G38R NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 78 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) ACCCCTTCTCCAACACTCTCC 0.532000 88 71 0 0 0.003610 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118173 118173 + RNA SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrGL000205.1:118173A>G uc002kgk.4 + 0 c.1551A>G Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GAGATCCGCCAAGCCATCATA 0.493000 16 4 0 0 0.000248 0 0 LRRK2 120892 broad.mit.edu 37 12 40687346 40687346 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:40687346G>A uc001rmg.4 + 21 2811 c.2690_splice c.e21-1 p.G897_splice LRRK2_uc001rmh.1_Splice_Site_p.G519_splice|LRRK2_uc009zjw.3_5'Flank NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 897 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTCAAAATAGGAAGTGAAGG 0.323000 7 8 0 0 0.003080 0 0 ZNF831 128611 broad.mit.edu 37 20 57766405 57766405 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:57766405C>T uc002yan.3 + 0 331 c.331C>T c.(331-333)Cct>Tct p.P111S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 111 Pro-rich. intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCCGGCGGCCCCTACGCTGAC 0.687000 6 4 0 0 0.000248 0 0 ABCA8 10351 broad.mit.edu 37 17 66878041 66878041 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:66878041C>T uc002jhq.3 - 30 4249 c.3909G>A c.(3907-3909)aaG>aaA p.K1303K ABCA8_uc002jhp.3_Silent_p.K1263K|ABCA8_uc010wqq.2_Silent_p.K1298K NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1263 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCGTGGCTATCTTATTCTTCC 0.463000 72 19 0 0 0.006122 0 0 OR2C1 4993 broad.mit.edu 37 16 3406326 3406326 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:3406326C>T uc002cuw.1 + 0 438 c.386C>T c.(385-387)cCc>cTc p.P129L NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GTGTGCCGGCCCCTCCGCTAC 0.607000 11 16 0 0 0.007413 0 0 EDARADD 128178 broad.mit.edu 37 1 236645793 236645793 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:236645793C>T uc001hxu.1 + 5 557 c.492C>T c.(490-492)acC>acT p.T164T EDARADD_uc001hxv.1_Silent_p.T154T NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA. 164 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGAGCCCCACCTTGGAGTTCT 0.572000 19 9 0 0 0.004482 0 0 LRCH4 4034 broad.mit.edu 37 7 100180065 100180065 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100180065A>C uc003uvj.3 - 1 291 c.238T>G c.(238-240)Ttt>Gtt p.F80V LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript NM_002319 NP_002310 O75427 LRCH4_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA. 80 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCTCGGGAAACCGGTTCCGG 0.657000 13 8 0 0 0.004482 0 0 UBR4 23352 broad.mit.edu 37 1 19433105 19433105 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:19433105G>A uc001bbi.3 - 82 12355 c.12351C>T c.(12349-12351)tcC>tcT p.S4117S UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 4117 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GATCCAAGGGGGAGGTCCTCT 0.567000 51 22 0 0 0.002780 0 0 ASAP3 55616 broad.mit.edu 37 1 23758271 23758271 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:23758271G>A uc001bha.2 - 22 2588 c.2464C>T c.(2464-2466)Ctc>Ttc p.L822F ASAP3_uc001bgy.1_Missense_Mutation_p.L326F|ASAP3_uc010odz.1_Missense_Mutation_p.L712F|ASAP3_uc010oea.1_Missense_Mutation_p.L813F NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA. 822 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GGCTCTCGGAGGCCCTCTTCA 0.652000 31 14 0 0 0.003163 0 0 KLHL5 51088 broad.mit.edu 37 4 39104936 39104936 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:39104936C>T uc003gtr.2 + 6 1751 c.1468C>T c.(1468-1470)Cgt>Tgt p.R490C KLHL5_uc003gtp.3_Missense_Mutation_p.R444C|KLHL5_uc003gtq.3_Missense_Mutation_p.R303C|KLHL5_uc003gts.3_Missense_Mutation_p.R490C|KLHL5_uc003gtt.3_Missense_Mutation_p.R429C NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA. 490 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 GTATGATCTCCGTACAAATAT 0.358000 17 4 0 0 0.000248 0 0 ELMO1 9844 broad.mit.edu 37 7 37382279 37382279 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:37382279C>T uc022abv.1 - 1 726 c.16G>A c.(16-18)Gac>Aac p.D6N ELMO1_uc003tfk.2_Missense_Mutation_p.D6N|ELMO1_uc010kxg.2_Missense_Mutation_p.D6N NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 6 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 p.A5T(1) 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 TTGACGATGTCCGCGGGTGGC 0.498000 98 32 0 0 0.002096 0 0 ANP32C 23520 broad.mit.edu 37 4 165118667 165118667 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:165118667C>T uc011cjk.2 - 0 197 c.197G>A c.(196-198)aGa>aAa p.R66K MARCH1_uc003iqs.2_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. 66 NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4) 35 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) TTCAAGCTTTCTCAACTTTAA 0.408000 68 60 0 0 0.003610 0 0 DSG4 147409 broad.mit.edu 37 18 28968349 28968349 + Missense_Mutation SNP C T T rs36040686 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:28968349C>T uc002kwr.2 + 3 371 c.236C>T c.(235-237)tCg>tTg p.S79L DSG4_uc002kwq.2_Missense_Mutation_p.S79L NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 79 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GACTGCGAATCGAACCAGAAG 0.418000 11 9 0 0 0.006214 0 0 ABHD12 26090 broad.mit.edu 37 20 25282881 25282881 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:25282881C>T uc002wuq.3 - 11 1410 c.1131G>A c.(1129-1131)aaG>aaA p.K377K ABHD12_uc002wus.2_Silent_p.K377K NM_015600 NP_056415 Q8N2K0 ABD12_HUMAN Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA. 377 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GCTCAGGGCTCTTGTAAATGT 0.532000 25 18 0 0 0.008871 0 0 PKP2 5318 broad.mit.edu 37 12 33031882 33031882 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:33031882G>A uc001rlj.4 - 1 423 c.308C>T c.(307-309)cCt>cTt p.P103L PKP2_uc001rlk.4_Missense_Mutation_p.P103L|PKP2_uc010skj.2_Missense_Mutation_p.P103L NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 103 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TTTAGGAACAGGGGAACGGCC 0.383000 51 18 0 0 0.001523 0 0 DNAH9 1770 broad.mit.edu 37 17 11737988 11737988 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:11737988G>A uc002gne.3 + 48 9348 c.9280G>A c.(9280-9282)Gaa>Aaa p.E3094K DNAH9_uc010coo.3_Missense_Mutation_p.E2388K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3094 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCTGCCCAGGAAGTAGAGCT 0.507000 13 17 0 0 0.008871 0 0 FBXL16 146330 broad.mit.edu 37 16 747067 747067 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:747067C>T uc021taa.1 - 1 667 c.339G>A c.(337-339)gaG>gaA p.E113E FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank NM_153350 NP_699181 Q8N461 FXL16_HUMAN Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA. 113 F-box. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) GCACACACTTCTCGCAGGCCG 0.662000 11 16 0 0 0.004990 0 0 FAM71B 153745 broad.mit.edu 37 5 156589596 156589596 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:156589596G>A uc003lwn.3 - 1 1780 c.1680C>T c.(1678-1680)atC>atT p.I560I NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 560 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTTAGCCACGATATCTACCT 0.483000 333 152 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179396953 179396953 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179396953C>T uc021vsy.1 - 306 96910 c.96685G>A c.(96685-96687)Gaa>Aaa p.E32229K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25924K|TTN_uc021vta.1_Missense_Mutation_p.E25857K|TTN_uc021vtb.1_Missense_Mutation_p.E25732K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33156 Protein kinase. 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) CTAGACTTTTCCTCCTTTGAC 0.413000 13 20 0 0 0.001882 0 0 TUBB6 84617 broad.mit.edu 37 18 12325642 12325643 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:12325642_12325643CC>TT uc002kqw.3 + 3 889_890 c.854_855CC>TT c.(853-855)acc>aTT p.T285I TUBB6_uc002kqv.3_Missense_Mutation_p.T213I|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA. 285 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CGGGCCCTGACCGTGCCCGAGC 0.683000 6 25 0 0 0.004672 0 0 SYNE2 23224 broad.mit.edu 37 14 64408603 64408603 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:64408603C>T uc001xgl.3 + 5 468 c.238_splice c.e5-1 p.P80_splice SYNE2_uc001xgk.3_Splice_Site_p.P80_splice|SYNE2_uc001xgm.3_Splice_Site_p.P80_splice|SYNE2_uc021ruh.1_Splice_Site_p.P80_splice NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 80 Actin-binding.|CH 1. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATTTCACAGCCTCGGGATAA 0.299000 36 28 0 0 0.006320 0 0 CEP290 80184 broad.mit.edu 37 12 88487599 88487599 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:88487599G>A uc001tar.3 - 27 3601 c.3257C>T c.(3256-3258)tCg>tTg p.S1086L CEP290_uc001taq.3_Missense_Mutation_p.S146L|CEP290_uc001tat.3_Missense_Mutation_p.S879L NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 1086 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.R1086W(1)|p.R1086Q(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTGCTTTAACGAAGTCCGTAA 0.303000 14 17 0 0 0.004007 0 0 PRUNE2 158471 broad.mit.edu 37 9 79326018 79326018 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:79326018G>A uc010mpk.3 - 7 1296 c.1172C>T c.(1171-1173)tCt>tTt p.S391F PRUNE2_uc022bih.1_Missense_Mutation_p.S213F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 391 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTCTATGTCAGAACCATACAA 0.512000 15 8 0 0 0.006214 0 0 TRIM9 114088 broad.mit.edu 37 14 51492019 51492019 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:51492019A>C uc001wyx.4 - 1 1647 c.882T>G c.(880-882)ttT>ttG p.F294L TRIM9_uc001wyy.2_Missense_Mutation_p.F294L|TRIM9_uc001wyz.4_Missense_Mutation_p.F294L NM_015163 NP_055978 Q9C026 TRIM9_HUMAN Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA. 294 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GCTGTACCAGAAACTCCTTGG 0.552000 64 43 0 0 0.003610 0 0 ARRB1 408 broad.mit.edu 37 11 74979994 74979994 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:74979994G>A uc001owe.2 - 13 1256 c.1032C>T c.(1030-1032)gcC>gcT p.A344A ARRB1_uc001owf.2_Silent_p.A336A NM_004041 NP_004032 P49407 ARRB1_HUMAN Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA. 344 Interaction with TRAF6. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 GCAGTTCCACGGCCACGTCGC 0.587000 25 20 0 0 0.002780 0 0 SOX13 9580 broad.mit.edu 37 1 204093876 204093876 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:204093876C>T uc001ham.3 + 12 2078 c.1483C>T c.(1483-1485)Ccg>Tcg p.P495S SOX13_uc010pqp.2_Missense_Mutation_p.P494S|SOX13_uc010pqq.2_Missense_Mutation_p.P362S NM_005686 NP_005677 Q9UN79 SOX13_HUMAN Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA. 495 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CAAGTACAAGCCGCGGCCCAA 0.627000 3 5 0 0 0.001168 0 0 HOXA6 3203 broad.mit.edu 37 7 27187097 27187097 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:27187097G>A uc003syo.2 - 0 297 c.272C>T c.(271-273)tCg>tTg p.S91L HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron NM_024014 NP_076919 P31267 HXA6_HUMAN Homo sapiens homeobox A6 (HOXA6), mRNA. 91 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 GCCACTGCCCGAGGGCGAGGC 0.622000 16 19 0 0 0.008871 0 0 NLN 57486 broad.mit.edu 37 5 65084139 65084139 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:65084139C>T uc003juf.3 + 7 1331 c.1153C>T c.(1153-1155)Cca>Tca p.P385S NLN_uc003jue.3_Missense_Mutation_p.P385S|NLN_uc010iww.3_Missense_Mutation_p.P80S NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA. 385 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GGAATACTTCCCAATTGAGGT 0.418000 56 26 0 0 0.003954 0 0 C8orf80 389643 broad.mit.edu 37 8 27931884 27931884 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:27931884C>T uc003xgm.4 - 2 186 c.43_splice c.e2+1 p.V15_splice NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 15 nucleus GTP binding|GTPase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) AAAGATGTTACCTGGATGCGG 0.428000 31 10 0 0 0.000978 0 0 SLC17A1 6568 broad.mit.edu 37 6 25813131 25813131 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:25813131G>A uc003nfh.4 - 7 941 c.825C>T c.(823-825)ttC>ttT p.F275F SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.F275F|SLC17A1_uc010jqc.1_Intron NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 275 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TATGTGACCAGAAAAACGTAA 0.358000 19 31 0 0 0.002096 0 0 PTPN7 5778 broad.mit.edu 37 1 202123350 202123350 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:202123350G>A uc001gxn.2 - 5 1666 c.570C>T c.(568-570)ctC>ctT p.L190L PTPN7_uc001gxl.2_Silent_p.L229L|PTPN7_uc001gxm.2_Silent_p.L295L|PTPN7_uc010ppx.2_Silent_p.L264L|PTPN7_uc010ppw.2_Silent_p.L138L|PTPN7_uc010ppy.2_Intron|PTPN7_uc001gxo.1_Silent_p.L142L NM_002832 NP_002823 P35236 PTN7_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA. 190 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GCATGACAATGAGGGACACTT 0.582000 22 15 0 0 0.004007 0 0 XIRP2 129446 broad.mit.edu 37 2 168105217 168105217 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:168105217G>A uc002udx.3 + 8 7404 c.7315G>A c.(7315-7317)Gat>Aat p.D2439N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2264 actin cytoskeleton organization cell junction actin binding p.D2439N(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAATAAGAACGATTTTTCCCC 0.408000 68 28 0 0 0.002445 0 0 FAM120B 84498 broad.mit.edu 37 6 170628184 170628184 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:170628184C>T uc003qxp.3 + 1 1814 c.1706C>T c.(1705-1707)aCc>aTc p.T569I FAM120B_uc003qxo.1_Missense_Mutation_p.T569I|FAM120B_uc011ehd.2_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN Homo sapiens family with sequence similarity 120B (FAM120B), mRNA. 569 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.V568L(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CAACAAGTAACCATGGTTTCA 0.388000 42 21 0 0 0.002780 0 0 SASH1 23328 broad.mit.edu 37 6 148792633 148792634 + Missense_Mutation DNP TC GT GT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:148792633_148792634TC>GT uc003qme.1 + 5 983_984 c.508_509TC>GT c.(508-510)tca>GTa p.S170V NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 170 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GAGACAGACTTCAAAAGGTACT 0.386000 16 10 0 0 0.004672 0 0 DPP3 10072 broad.mit.edu 37 11 66276699 66276699 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:66276699G>A uc001oig.1 + 17 2253 c.2191G>A c.(2191-2193)Gag>Aag p.E731K DPP3_uc001oif.1_Missense_Mutation_p.E731K|DPP3_uc010rpe.1_Missense_Mutation_p.E720K|BBS1_uc001oih.1_Silent_p.V98V|BBS1_uc001oii.1_Silent_p.V24V|BBS1_uc010rpf.1_5'Flank|BBS1_uc001oil.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank NM_005700 NP_569710 Q9NY33 DPP3_HUMAN Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA. 731 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GGGCCCCAGTGAGGCCCCATC 0.587000 9 4 0 0 0.000248 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139917122 139917122 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:139917122C>T uc003lfs.2 + 30 7330 c.7176C>T c.(7174-7176)gtC>gtT p.V2392V ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.V2392V|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.V1148V|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.V1047V|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.V768V|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.V546V NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 2392 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGTTTTGTCGCTCCCGTTG 0.522000 12 11 0 0 0.001855 0 0 PTPRK 5796 broad.mit.edu 37 6 128306883 128306883 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:128306883G>A uc003qbk.3 - 21 3598 c.3231C>T c.(3229-3231)ccC>ccT p.P1077P PTPRK_uc010kfc.3_Silent_p.P1084P|PTPRK_uc003qbj.3_Silent_p.P1078P|PTPRK_uc011ebu.2_Silent_p.P1100P NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1077 Tyrosine-protein phosphatase 1. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GTACAACGATGGGGCCAGCAC 0.478000 39 15 0 0 0.004007 0 0 TMCC3 57458 broad.mit.edu 37 12 94976051 94976051 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:94976051G>A uc001tdj.2 - 1 460 c.342C>T c.(340-342)gtC>gtT p.V114V TMCC3_uc001tdi.2_Silent_p.V83V NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA. 114 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TCTTCTCAAAGACTTGCTTGA 0.468000 30 28 0 0 0.004656 0 0 USP34 9736 broad.mit.edu 37 2 61528560 61528560 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:61528560A>C uc002sbe.3 - 27 3869 c.3847T>G c.(3847-3849)Tca>Gca p.S1283A NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 1283 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TGTCCAGATGAAATCATCCTG 0.343000 37 73 0 0 0.003610 0 0 CDH5 1003 broad.mit.edu 37 16 66424444 66424444 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:66424444C>T uc002eom.4 + 5 1076 c.920C>T c.(919-921)aCc>aTc p.T307I CDH5_uc002eon.1_Missense_Mutation_p.T307I NM_001795 NP_001786 P33151 CADH5_HUMAN Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA. 307 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GACGCTTTCACCATTGAGACA 0.562000 31 9 0 0 0.008291 0 0 ZFPM1 161882 broad.mit.edu 37 16 88599105 88599105 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:88599105G>A uc002fkv.3 + 7 1063 c.1030G>A c.(1030-1032)Gac>Aac p.D344N NM_153813 NP_722520 Q8IX07 FOG1_HUMAN Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA. 344 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGTGCACACGGACACGCTGAG 0.701000 4 5 0 0 0.001168 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032408 10032408 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:10032408C>T uc010uym.2 - 4 725 c.415_splice c.e4-1 p.D139_splice GRIN2A_uc002czo.4_Splice_Site_p.D139_splice|GRIN2A_uc010uyn.2_Splice_Site|GRIN2A_uc002czr.4_Splice_Site_p.D139_splice NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 139 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACGTCGGATCCTGCCAGTGA 0.468000 25 6 0 0 0.001168 0 0 TUBB8 347688 broad.mit.edu 37 10 93719 93719 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:93719C>T uc001ifi.2 - 3 613 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 205 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.E205K(2) NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TACAGAGCTTCGTTATCTATG 0.537000 45 30 0 0 0.007291 0 0 SLIT2 9353 broad.mit.edu 37 4 20619120 20619120 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:20619120G>A uc003gpr.1 + 35 4399 c.4195G>A c.(4195-4197)Gag>Aag p.E1399K SLIT2_uc003gps.1_Missense_Mutation_p.E1391K NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1399 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding p.E1399K(2) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TAAGTGCTTGGAGGGCCATGG 0.537000 11 15 0 0 0.004007 0 0 TRPC6 7225 broad.mit.edu 37 11 101343009 101343009 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:101343009C>T uc001pgk.4 - 7 2489 c.2064G>A c.(2062-2064)gtG>gtA p.V688V TRPC6_uc009ywy.3_Silent_p.V572V|TRPC6_uc009ywz.1_Silent_p.V633V NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 688 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CCACTGATTTCACTTCAGAAA 0.318000 42 36 0 0 0.003755 0 0 TAAR5 9038 broad.mit.edu 37 6 132909851 132909851 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:132909851G>A uc003qdk.2 - 0 1027 c.975C>T c.(973-975)ttC>ttT p.F325F NM_003967 NP_003958 O14804 TAAR5_HUMAN Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA. 325 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.V324L(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TCTGCGGTGAGAAGACCTTCT 0.473000 23 30 0 0 0.003755 0 0 AXDND1 126859 broad.mit.edu 37 1 179347892 179347892 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:179347892G>A uc001gmo.3 + 5 882 c.495_splice c.e5+1 p.K165_splice AXDND1_uc001gmn.2_Splice_Site|AXDND1_uc010pnl.2_Splice_Site|AXDND1_uc009wxg.3_Splice_Site|AXDND1_uc021pfj.1_Splice_Site_p.K123_splice NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 165 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TGCCCCATAAGGTAAATAAAG 0.333000 35 19 0 0 0.008871 0 0 CYP4A11 1579 broad.mit.edu 37 1 47407056 47407056 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:47407056C>T uc001cqp.4 - 0 101 c.50G>A c.(49-51)gGa>gAa p.G17E CYP4A11_uc001cqq.2_Missense_Mutation_p.G17E|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 17 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.S16S(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TTGGAGGATTCCAGAGACATC 0.592000 41 13 0 0 0.003163 0 0 LOC644669 644669 broad.mit.edu 37 18 15316654 15316654 + RNA SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:15316654A>G uc002ktd.1 - 4 c.380T>C Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. TTTGAAGAGGAATTCACTGTA 0.403000 0 4 0 0 0.000602 0 0 LPHN3 23284 broad.mit.edu 37 4 62897307 62897307 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:62897307C>T uc010ihh.3 + 19 3539 c.3366C>T c.(3364-3366)ttC>ttT p.F1122F LPHN3_uc003hcq.4_Silent_p.F1122F|LPHN3_uc003hct.3_Silent_p.F506F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 1100 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TATTTATTTTCCATTGTGTCC 0.333000 39 35 0 0 0.002836 0 0 UNC13D 201294 broad.mit.edu 37 17 73832957 73832957 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73832957G>A uc002jpp.3 - 12 1478 c.1098C>T c.(1096-1098)ttC>ttT p.F366F UNC13D_uc010wsk.1_Silent_p.F366F|UNC13D_uc002jpq.1_Silent_p.F16F|UNC13D_uc010dgq.1_Silent_p.F163F NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 366 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCTGCTGGGGAACTCCAGGC 0.627000 Familial Hemophagocytic Lymphohistiocytosis 76 14 0 0 0.003163 0 0 COL21A1 81578 broad.mit.edu 37 6 56044684 56044684 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:56044684C>T uc003pcs.3 - 2 564 c.332G>A c.(331-333)gGa>gAa p.G111E COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G111E|COL21A1_uc003pcu.1_Missense_Mutation_p.G111E NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 111 VWFA. cell adhesion collagen|cytoplasm structural molecule activity p.G111E(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TGTGTTTCCTCCTAAGTAGAG 0.463000 27 11 0 0 0.001368 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011956 160011956 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:160011956G>A uc001fuw.2 - 1 607 c.367C>T c.(367-369)Ctt>Ttt p.L123F NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 123 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGGATTCAAGGGAGAAGAGG 0.577000 38 9 0 0 0.006214 0 0 UNC13C 440279 broad.mit.edu 37 15 54306001 54306001 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:54306001G>A uc021smr.1 + 0 901 c.901G>A c.(901-903)Gaa>Aaa p.E301K UNC13C_uc021sms.1_Missense_Mutation_p.E301K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 301 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCTCGGAGGGAAACTAGAGA 0.428000 55 44 0 0 0.002852 0 0 ANAPC5 51433 broad.mit.edu 37 12 121756141 121756141 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:121756141G>A uc001uag.3 - 14 1954 c.1832C>T c.(1831-1833)tCc>tTc p.S611F ANAPC5_uc010szu.2_Missense_Mutation_p.S277F|ANAPC5_uc001uae.3_Missense_Mutation_p.S175F|ANAPC5_uc010szv.2_Missense_Mutation_p.S213F|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.S499F NM_016237 NP_057321 Q9UJX4 APC5_HUMAN Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA. 611 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTACTCCTTGGAGAGGGCCAG 0.537000 253 220 0 0 0.003610 0 0 EPHA2 1969 broad.mit.edu 37 1 16460021 16460021 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:16460021C>T uc001aya.2 - 9 1974 c.1819G>A c.(1819-1821)Gag>Aag p.E607K NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 607 Mediates interaction with ARHGEF16 and ELMO2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGATGGATCTCGGTAGTGAAC 0.592000 10 10 0 0 0.002450 0 0 TLE2 7089 broad.mit.edu 37 19 3005778 3005778 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:3005778G>A uc010dth.3 - 15 1955 c.1692C>T c.(1690-1692)ttC>ttT p.F564F TLE2_uc010xhb.2_Silent_p.F230F|TLE2_uc002lww.3_Silent_p.F563F|TLE2_uc010xhc.2_Silent_p.F441F|TLE2_uc010dti.3_Silent_p.F577F NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 563 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCAGCAGGAGAAGCAAACCT 0.667000 26 16 0 0 0.004990 0 0 PCDH1 5097 broad.mit.edu 37 5 141243292 141243292 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:141243292G>A uc003llp.3 - 2 2721 c.2604C>T c.(2602-2604)atC>atT p.I868I PCDH1_uc011dbf.2_Silent_p.I846I|PCDH1_uc003llq.3_Silent_p.I868I NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 868 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CCGCCAGGGCGATGAGCAAGG 0.572000 115 40 0 0 0.003214 0 0 TRIM55 84675 broad.mit.edu 37 8 67062070 67062070 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:67062070G>A uc003xvv.3 + 4 1020 c.794G>A c.(793-795)gGa>gAa p.G265E TRIM55_uc003xvu.3_Missense_Mutation_p.G265E|TRIM55_uc003xvw.3_Missense_Mutation_p.G265E|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 265 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GTTGAGTCAGGAATTCAGTTT 0.428000 30 28 0 0 0.002096 0 0 C2orf71 388939 broad.mit.edu 37 2 29295194 29295194 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:29295194C>T uc002rmt.2 - 0 1934 c.1934G>A c.(1933-1935)aGa>aAa p.R645K NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 645 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGCGGCTGCTCTGGGCTGCAG 0.592000 33 18 0 0 0.007413 0 0 SEPP1 6414 broad.mit.edu 37 5 42801055 42801055 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:42801055G>A uc011cps.2 - 5 1101 c.1003C>T c.(1003-1005)Cga>Tga p.R335* CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Nonsense_Mutation_p.R305*|SEPP1_uc011cpu.2_Nonsense_Mutation_p.R305*|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 305 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 ATCAGATGTCGACAATGGCAG 0.423000 19 31 0 0 0.002445 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935284 151935284 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:151935284C>T uc022chl.1 - 0 883 c.883G>A c.(883-885)Gga>Aga p.G295R MAGEA3_uc004fgp.3_Missense_Mutation_p.G295R NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 295 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGTCCTCCACTGATCTTT 0.557000 53 42 0 0 0.003610 0 0 LRIG2 9860 broad.mit.edu 37 1 113655232 113655232 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:113655232C>T uc001edf.1 + 13 2128 c.1930C>T c.(1930-1932)Cct>Tct p.P644S LRIG2_uc009wgn.1_Missense_Mutation_p.P541S NM_014813 NP_055628 O94898 LRIG2_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA. 644 Ig-like C2-type 2. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TACTGACTTTCCTGCGGCTCG 0.498000 21 27 0 0 0.007291 0 0 ANKRD19P 138649 broad.mit.edu 37 9 95576272 95576272 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:95576272G>A uc011lua.1 + 2 492 c.438G>A c.(436-438)ggG>ggA p.G146G ANKRD19P_uc004ass.2_Non-coding_Transcript|ANKRD19P_uc004asr.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA. ATAATAAGGGGACTTCACTGG 0.393000 18 18 0 0 0.004990 0 0 MACF1 23499 broad.mit.edu 37 1 39847728 39847728 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:39847728C>T uc021olw.1 + 19 9072 c.9072C>T c.(9070-9072)ctC>ctT p.L3024L MACF1_uc021ols.1_Silent_p.L2522L|MACF1_uc001cdc.2_Silent_p.L2501L|MACF1_uc021olt.1_Silent_p.L2522L|MACF1_uc001cda.1_Silent_p.L2409L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 4589 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AATCCCAGCTCCGGCCGTGGC 0.562000 29 6 0 0 0.001984 0 0 PGK2 5232 broad.mit.edu 37 6 49754853 49754853 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:49754853C>T uc003ozu.3 - 0 201 c.48G>A c.(46-48)ggG>ggA p.G16G NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 16 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.G16W(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TGACTCGCTTCCCTCTAACAT 0.408000 61 50 0 0 0.003610 0 0 AK7 122481 broad.mit.edu 37 14 96864488 96864488 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:96864488C>T uc001yfn.2 + 1 226 c.182C>T c.(181-183)tCa>tTa p.S61L AK7_uc001yfm.1_Missense_Mutation_p.S61L NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 61 cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GAAAATAAGTCAGCTATGCTG 0.483000 39 33 0 0 0.002445 0 0 GJD2 57369 broad.mit.edu 37 15 35045085 35045085 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:35045085G>A uc001zis.1 - 1 560 c.560C>T c.(559-561)tCc>tTc p.S187F AK092087_uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA. 187 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TCTGAGCTTGGATTTTGATGC 0.488000 54 41 0 0 0.008740 0 0 ANGPT4 51378 broad.mit.edu 37 20 896618 896618 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:896618C>T uc002wei.3 - 0 343 c.240G>A c.(238-240)ggG>ggA p.G80G ANGPT4_uc010zpn.2_Silent_p.G74G NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 80 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TGGGCAACTTCCCCAGGTGCA 0.622000 24 21 0 0 0.002299 0 0 GRM6 2916 broad.mit.edu 37 5 178418980 178418981 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:178418980_178418981GG>AA uc003mjr.3 - 1 787_788 c.608_609CC>TT c.(607-609)gcc>gTT p.A203V GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 203 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGTCCACCATGGCCTGCGCCTG 0.614000 6 12 0 0 0.004672 0 0 DMBT1 1755 broad.mit.edu 37 10 124331842 124331842 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:124331842C>T uc001lgk.1 + 4 306 c.200C>T c.(199-201)tCc>tTc p.S67F DMBT1_uc001lgl.1_Missense_Mutation_p.S67F|DMBT1_uc001lgm.1_Missense_Mutation_p.S67F|DMBT1_uc021qaf.1_Missense_Mutation_p.S67F|DMBT1_uc021qag.1_Missense_Mutation_p.S67F|DMBT1_uc021qah.1_Missense_Mutation_p.S67F|DMBT1_uc009xzz.1_Missense_Mutation_p.S67F|DMBT1_uc010qtx.1_Missense_Mutation_p.S67F|DMBT1_uc009yaa.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 67 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) TCTCCGATTTCCTTGGAGTCA 0.522000 67 36 0 0 0.004878 0 0 KIAA0195 9772 broad.mit.edu 37 17 73491705 73491705 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73491705C>T uc010wsa.2 + 20 3147 c.2955C>T c.(2953-2955)ttC>ttT p.F985F KIAA0195_uc002jnz.4_Silent_p.F975F|KIAA0195_uc010wsb.2_Silent_p.F615F|KIAA0195_uc002job.4_5'UTR NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 975 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCCCCTTTTCACCGACTGCA 0.642000 112 45 0 0 0.003214 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413033 19413033 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:19413033G>A uc010tcj.1 - 0 c.33077C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GCACATCCATGCACTAAAAAG 0.294000 31 5 0 0 0.000602 0 0 REXO1L1 254958 broad.mit.edu 37 8 86567384 86567384 + Nonsense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:86567384G>C uc003ydl.1 - 0 522 c.435C>G c.(433-435)taC>taG p.Y145* NM_172239 NP_758439 Q8IX06 GOR_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA. 502 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 AGTCCAAGGCGTAGATTCCTG 0.592000 89 11 0 0 0.001855 0 0 FPR2 2358 broad.mit.edu 37 19 52272026 52272026 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:52272026C>T uc002pxr.3 + 1 160 c.115C>T c.(115-117)Ctc>Ttc p.L39F FPR2_uc002pxs.4_Missense_Mutation_p.L39F|FPR2_uc010epf.3_Missense_Mutation_p.L39F|FPR2_uc021uyp.1_Missense_Mutation_p.L39F NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 39 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.L39F(2) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CACCTTTGTCCTCGGGGTCCT 0.552000 15 26 0 0 0.006320 0 0 FLT4 2324 broad.mit.edu 37 5 180030269 180030269 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:180030269C>T uc003mlz.4 - 29 4094 c.4015G>A c.(4015-4017)Gag>Aag p.E1339K NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 0 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCCGACAGCTCCCCATACTCG 0.642000 8 18 0 0 0.006122 0 0 OR4S2 219431 broad.mit.edu 37 11 55418543 55418543 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:55418543C>T uc001nhs.1 + 0 164 c.164C>T c.(163-165)tCa>tTa p.S55L NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CTGTTTAAGTCACCCATGTAT 0.393000 1 40 0 0 0.002522 0 0 NBEA 26960 broad.mit.edu 37 13 35758160 35758160 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:35758160C>T uc021rid.1 + 29 5413 c.4879C>T c.(4879-4881)Ctt>Ttt p.L1627F NBEA_uc021ric.1_Missense_Mutation_p.L1624F|NBEA_uc010abi.3_Intron NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 1627 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CCATGGATTCCTTGCCAAGTT 0.413000 29 12 0 0 0.002450 0 0 IVD 3712 broad.mit.edu 37 15 40703543 40703543 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:40703543G>A uc001zls.3 + 4 884 c.550G>A c.(550-552)Gaa>Aaa p.E184K IVD_uc001zlq.2_Missense_Mutation_p.E154K NM_002225 NP_002216 P26440 IVD_HUMAN Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 181 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GCTCAAAGCGGAAAAGAAAGG 0.522000 54 56 0 0 0.003610 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645690 51645690 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:51645690A>C uc002pvv.1 + 0 133 c.64A>C c.(64-66)Aac>Cac p.N22H SIGLEC7_uc002pvw.1_Missense_Mutation_p.N22H|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.N22H NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 22 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACAGAAGAGTAACCGGAAGGA 0.612000 7 13 0 0 0.001368 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746080 77746080 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:77746080G>A uc002snr.3 - 2 1330 c.915C>T c.(913-915)tcC>tcT p.S305S LRRTM4_uc002snq.3_Silent_p.S305S|LRRTM4_uc002sns.2_Silent_p.S305S|LRRTM4_uc002snt.2_Silent_p.S306S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 305 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) ACAATGTGATGGATATTAATG 0.353000 15 8 0 0 0.003080 0 0 ZMYND8 23613 broad.mit.edu 37 20 45916029 45916029 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:45916029C>T uc010zxy.1 - 8 852 c.770_splice c.e8-1 p.G257_splice ZMYND8_uc010ghr.1_Splice_Site_p.G205_splice|ZMYND8_uc002xst.1_Splice_Site_p.G205_splice|ZMYND8_uc002xsu.1_Splice_Site_p.G230_splice|ZMYND8_uc002xsv.1_Splice_Site_p.G205_splice|ZMYND8_uc002xsw.1_Splice_Site|ZMYND8_uc002xsx.1_Splice_Site|ZMYND8_uc002xsy.1_Splice_Site_p.G205_splice|ZMYND8_uc002xsz.1_Splice_Site_p.G167_splice|ZMYND8_uc002xta.1_Splice_Site_p.G230_splice|ZMYND8_uc002xtb.1_Splice_Site_p.G250_splice|ZMYND8_uc002xss.2_Splice_Site_p.G230_splice|ZMYND8_uc010zxz.1_Splice_Site_p.G225_splice|ZMYND8_uc002xtc.1_Splice_Site_p.G250_splice|ZMYND8_uc002xtd.1_Splice_Site_p.G225_splice|ZMYND8_uc002xte.1_Splice_Site_p.G230_splice|ZMYND8_uc010zya.1_Splice_Site_p.G230_splice|ZMYND8_uc002xtf.1_Splice_Site_p.G250_splice|ZMYND8_uc002xtg.3_Splice_Site_p.G224_splice|ZMYND8_uc010ghs.2_Splice_Site_p.G224_splice NM_183047 NP_898868 Q9ULU4 PKCB1_HUMAN Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA. 230 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TTGTGATTTCCTAAGGGAATA 0.423000 20 8 0 0 0.004482 0 0 OR8H1 219469 broad.mit.edu 37 11 56058353 56058353 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:56058353G>A uc010rje.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F61F(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGTGAGTAAGGAAAAAATACA 0.403000 98 40 0 0 0.002522 0 0 CFTR 1080 broad.mit.edu 37 7 117174389 117174390 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:117174389_117174390CC>TT uc003vjd.3 + 4 681_682 c.549_550CC>TT c.(547-552)ctcctt>ctTTtt p.L184F CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 184 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTGTTAGTCTCCTTTCCAACAA 0.307000 Cystic Fibrosis 26 17 0 0 0.004672 0 0 NAA11 84779 broad.mit.edu 37 4 80246932 80246932 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:80246932G>A uc003hlt.4 - 0 240 c.100C>T c.(100-102)Cat>Tat p.H34Y NAA11_uc021xpl.1_Missense_Mutation_p.H34Y NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA. 34 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 GAAAGGCCATGATATAAATAG 0.478000 48 10 0 0 0.008291 0 0 NPTXR 23467 broad.mit.edu 37 22 39219171 39219171 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:39219171C>T uc003awk.3 - 3 1349 c.1195G>A c.(1195-1197)Ggg>Agg p.G399R NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 399 Pentaxin. integral to membrane metal ion binding p.G399G(1) central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) TGCAGCTCCCCGTCCTGGTAG 0.627000 26 17 0 0 0.006122 0 0 TLL1 7092 broad.mit.edu 37 4 166929148 166929148 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:166929148G>A uc003irh.2 + 6 1512 c.865G>A c.(865-867)Gaa>Aaa p.E289K TLL1_uc021xud.1_Missense_Mutation_p.E289K|TLL1_uc011cjn.2_Missense_Mutation_p.E289K|TLL1_uc011cjo.2_Missense_Mutation_p.E113K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 289 Metalloprotease (By similarity). 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) CTCACTTGGAGAAAGATATGA 0.398000 57 13 0 0 0.002450 0 0 RBP3 5949 broad.mit.edu 37 10 48382025 48382025 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:48382025C>T uc001jez.3 - 3 3738 c.3624G>A c.(3622-3624)ggG>ggA p.G1208G NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 1208 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TCACCCCCACCCCTTCCCAGG 0.642000 7 6 0 0 0.003080 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431354 110431354 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:110431354G>A uc003yne.3 + 21 2493 c.2389G>A c.(2389-2391)Gat>Aat p.D797N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 797 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGACCTTCTGGATCTCGTAAG 0.363000 HNSCC(38;0.096) 57 16 0 0 0.004990 0 0 BIRC3 330 broad.mit.edu 37 11 102201752 102201752 + Silent SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:102201752A>G uc001pgx.3 + 5 3899 c.1104A>G c.(1102-1104)gaA>gaG p.E368E NM_182962 NP_892007 Q13489 BIRC3_HUMAN Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA. 368 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.E368K(1)|p.E368*(1) endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) AACCTGGAGAAGACCATTCAG 0.333000 T MALT1 MALT 32 24 0 0 0.005443 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37478418 37478418 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:37478418G>A uc021ppc.1 + 24 2376 c.2277G>A c.(2275-2277)caG>caA p.Q759Q ANKRD30A_uc001iza.1_Silent_p.Q759Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 815 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 CTGTTTCACAGAAGGATGTGT 0.279000 15 19 0 0 0.006320 0 0 NAGA 4668 broad.mit.edu 37 22 42456378 42456379 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:42456378_42456379GG>AA uc003bbw.4 - 8 1685_1686 c.1140_1141CC>TT c.(1138-1143)ctccga>ctTTga p.R381* NM_000262 NP_000253 P17050 NAGAB_HUMAN Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA. 381 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GTTTCATCTCGGAGGCCACTGA 0.569000 36 34 0 0 0.004672 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891535 18891535 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:18891535G>A uc001rdy.3 + 0 491 c.333G>A c.(331-333)caG>caA p.Q111Q PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 111 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GTATCATTCAGAATGAGGCAG 0.393000 35 30 0 0 0.007291 0 0 SLURP1 57152 broad.mit.edu 37 8 143822646 143822646 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:143822646G>A uc003ywy.3 - 2 253 c.227C>T c.(226-228)tCc>tTc p.S76F NM_020427 NP_065160 P55000 SLUR1_HUMAN Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA. 76 cell activation|cell adhesion extracellular space cytokine activity breast(1)|lung(7)|ovary(1) 9 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGCCACACAGGAGCTGGAGCA 0.667000 8 4 0 0 0.000248 0 0 TBX3 6926 broad.mit.edu 37 12 115117417 115117417 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:115117417G>A uc001tvt.1 - 3 1721 c.757C>T c.(757-759)Cac>Tac p.H253Y TBX3_uc001tvu.1_Missense_Mutation_p.H233Y NM_016569 NP_057653 O15119 TBX3_HUMAN Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA. 253 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CTTACAATGTGGAACCGGGGC 0.443000 65 34 0 0 0.005524 0 0 ZNF253 56242 broad.mit.edu 37 19 20002636 20002636 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:20002636C>T uc002noj.3 + 3 672 c.580C>T c.(580-582)Cat>Tat p.H194Y ZNF253_uc002nok.3_Missense_Mutation_p.H118Y|ZNF253_uc002nol.3_Non-coding_Transcript NM_021047 NP_066385 O75346 ZN253_HUMAN Homo sapiens zinc finger protein 253 (ZNF253), mRNA. 194 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TAAGAAAATTCATACTGGAGA 0.353000 20 12 0 0 0.002450 0 0 MYH1 4619 broad.mit.edu 37 17 10415480 10415480 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:10415480G>A uc002gmo.3 - 12 1271 c.1177C>T c.(1177-1179)Ctg>Ttg p.L393L AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 393 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCAGAGTTCAGATTTTGGAGA 0.468000 115 32 0 0 0.002445 0 0 FECH 2235 broad.mit.edu 37 18 55247340 55247340 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:55247340G>A uc002lgq.4 - 1 276 c.159C>T c.(157-159)gcC>gcT p.A53A FECH_uc002lgp.4_Silent_p.A53A|FECH_uc002lgr.4_5'UTR NM_000140 NP_000131 P22830 HEMH_HUMAN Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 53 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding p.A53S(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) TTGCACCCTGGGCATGCTGGG 0.512000 16 21 0 0 0.008871 0 0 DDX46 9879 broad.mit.edu 37 5 134121252 134121252 + Nonsense_Mutation SNP C G G rs141820419 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:134121252C>G uc003kzw.3 + 10 1608 c.1440C>G c.(1438-1440)taC>taG p.Y480* DDX46_uc003kzv.1_Non-coding_Transcript NM_014829 NP_055644 Q7L014 DDX46_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA. 480 Helicase ATP-binding. RNA splicing|mRNA processing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTGTGTTTACGGAGGAACAG 0.373000 24 41 0 0 0.002222 0 0 POM121L12 285877 broad.mit.edu 37 7 53103958 53103958 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:53103958C>T uc003tpz.3 + 0 610 c.594C>T c.(592-594)ttC>ttT p.F198F NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 198 p.F198F(4) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGTTGTGGTTCGAGGTCTCAG 0.667000 24 23 0 0 0.006320 0 0 CLCN1 1180 broad.mit.edu 37 7 143043244 143043244 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:143043244C>T uc003wcr.1 + 17 2271 c.2184C>T c.(2182-2184)tcC>tcT p.S728S CLCN1_uc011ktc.1_Silent_p.S340S NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 728 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TTCCTCCTTCCCTTGCTCTCC 0.582000 27 8 0 0 0.004482 0 0 PLK2 10769 broad.mit.edu 37 5 57753146 57753147 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:57753146_57753147CC>TT uc003jrn.3 - 6 1049_1050 c.869_870GG>AA c.(868-870)agg>aAA p.R290K PLK2_uc021xyx.1_Missense_Mutation_p.R276K NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA. 290 Protein kinase. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CCCTTATGCACCTATAAGTTTC 0.431000 16 9 0 0 0.004672 0 0 OTOF 9381 broad.mit.edu 37 2 26699765 26699765 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:26699765G>A uc002rhk.3 - 21 2797 c.2670C>T c.(2668-2670)ttC>ttT p.F890F OTOF_uc002rhh.3_Silent_p.F143F|OTOF_uc002rhi.3_Silent_p.F200F|OTOF_uc002rhj.3_Silent_p.F143F NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 890 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACCTTAAGGAAGAGCGTCT 0.642000 16 6 0 0 0.003080 0 0 MLL 4297 broad.mit.edu 37 11 118343788 118343788 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:118343788C>T uc001pta.3 + 2 1937 c.1914C>T c.(1912-1914)gcC>gcT p.A638A MLL_uc001ptb.3_Silent_p.A638A|MLL_uc001psz.1_Silent_p.A671A|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 638 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAAAGTATGCCAAAGAAGGTC 0.428000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 29 20 0 0 0.001523 0 0 RXFP2 122042 broad.mit.edu 37 13 32367143 32367143 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:32367143G>A uc001utt.3 + 15 1775 c.1704G>A c.(1702-1704)ggG>ggA p.G568G RXFP2_uc010aba.3_Silent_p.G544G NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 568 integral to membrane|plasma membrane p.G568W(1)|p.Y567Y(1) cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ACTTTTATGGGAAAAATGGAG 0.343000 30 12 0 0 0.000978 0 0 OR6C1 390321 broad.mit.edu 37 12 55715295 55715296 + Nonsense_Mutation DNP GA AT AT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:55715295_55715296GA>AT uc010spi.2 + 0 912_913 c.912_913GA>AT c.(910-915)aggaag>agATag p.K305* NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R304R(2) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 ACATGGCAAGGAAGACTGTATT 0.391000 35 13 0 0 0.004672 0 0 MYD88 4615 broad.mit.edu 37 3 38182680 38182680 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:38182680C>T uc003chx.3 + 4 1041 c.857C>T c.(856-858)cCc>cTc p.P286L MYD88_uc011ayi.2_Missense_Mutation_p.P278L|MYD88_uc011ayj.2_3'UTR|MYD88_uc011ayk.2_3'UTR|MYD88_uc011ayl.2_Missense_Mutation_p.P233L NM_001172567 NP_001166038 Q99836 MYD88_HUMAN Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA. 265 TIR. 3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane TIR domain binding|death receptor binding|transmembrane receptor activity p.V286_T294del(1) breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AAAGAGTTCCCCAGCATCCTG 0.567000 Mis ABC-DLBCL 38 29 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179453449 179453449 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179453449C>T uc021vsy.1 - 252 55524 c.55299G>A c.(55297-55299)gaG>gaA p.E18433E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E12128E|TTN_uc021vta.1_Silent_p.E12061E|TTN_uc021vtb.1_Silent_p.E11936E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19360 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) TTTCCTTTTTCTCCAAAAAGT 0.423000 34 16 0 0 0.004990 0 0 DISC1 27185 broad.mit.edu 37 1 231906692 231906692 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:231906692C>T uc010pxh.2 + 6 1659 c.1606C>T c.(1606-1608)Ctg>Ttg p.L536L DISC1_uc010pwj.1_Silent_p.L493L|DISC1_uc010pwk.1_Silent_p.L493L|DISC1_uc010pwg.1_Silent_p.L493L|DISC1_uc010pwh.1_Silent_p.L459L|DISC1_uc010pwi.1_Silent_p.L459L|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwq.2_Silent_p.L504L|DISC1_uc010pwr.1_Silent_p.L504L|DISC1_uc010pws.1_Silent_p.L504L|DISC1_uc010pwt.1_Silent_p.L504L|DISC1_uc010pwu.1_Silent_p.L154L|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Silent_p.L504L|DISC1_uc001huy.3_Silent_p.L504L|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Silent_p.L504L|DISC1_uc010pxc.1_Silent_p.L504L|DISC1_uc010pxe.2_Silent_p.L504L|DISC1_uc010pxf.2_Silent_p.L504L|DISC1_uc010pxg.2_Silent_p.L504L|DISC1_uc010pxd.2_Silent_p.L149L|DISC1_uc009xfr.3_Silent_p.L459L|DISC1_uc010pxn.1_Silent_p.L149L|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Silent_p.L149L|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Intron|DISC1_uc001huz.3_Silent_p.L504L|DISC1_uc001hva.3_Silent_p.L504L NM_001164537 NP_001158009 Q9NRI5 DISC1_HUMAN Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA. 504 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGGCTGCGACCTGACCCCACT 0.592000 20 16 0 0 0.003163 0 0 ANO4 121601 broad.mit.edu 37 12 101381342 101381342 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:101381342C>T uc010svm.1 + 7 1200 c.628C>T c.(628-630)Cgg>Tgg p.R210W ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 210 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAGCAGGTTTCGGAGATGGTT 0.507000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 142 49 0 0 0.003610 0 0 OR2W3 343171 broad.mit.edu 37 1 248059200 248059200 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:248059200C>T uc010pzb.2 + 0 312 c.312C>T c.(310-312)ttC>ttT p.F104F OR2W3_uc001idp.1_Silent_p.F104F NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L103L(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTTCCTGTTCCTGGGTCTGG 0.552000 52 11 0 0 0.008291 0 0 XRN1 54464 broad.mit.edu 37 3 142102197 142102198 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:142102197_142102198GG>AA uc003eus.3 - 21 2627_2628 c.2560_2561CC>TT c.(2560-2562)cct>TTt p.P854F XRN1_uc010huu.3_Missense_Mutation_p.P320F|XRN1_uc003eut.3_Missense_Mutation_p.P854F|XRN1_uc003euu.3_Missense_Mutation_p.P854F|XRN1_uc003euv.1_Missense_Mutation_p.P715F NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 854 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ACTTCTCAGAGGAAACAAATCA 0.337000 26 15 0 0 0.004672 0 0 ARL3 403 broad.mit.edu 37 10 104459154 104459154 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:104459154A>T uc001kwa.3 - 2 398 c.240T>A c.(238-240)aaT>aaA p.N80K NM_004311 NP_004302 P36405 ARL3_HUMAN Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA. 80 cell cycle|cytokinesis|small GTPase mediated signal transduction Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding large_intestine(2) 2 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) TTTCAAAATAATTCTTCCAGT 0.353000 16 9 0 0 0.006214 0 0 CCDC108 255101 broad.mit.edu 37 2 219896369 219896369 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:219896369C>T uc002vjl.1 - 6 741 c.657G>A c.(655-657)atG>atA p.M219I CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.M208I|CCDC108_uc010zkq.1_Missense_Mutation_p.M154I NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 219 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAGCTGGTCCATGTACTCCT 0.637000 23 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179623863 179623863 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179623863A>C uc021vsy.1 - 43 10376 c.10151T>G c.(10150-10152)aTc>aGc p.I3384S TTN_uc021vsz.1_Missense_Mutation_p.I3338S|TTN_uc021vta.1_Missense_Mutation_p.I3338S|TTN_uc021vtb.1_Missense_Mutation_p.I3338S|TTN_uc002umz.1_Missense_Mutation_p.I45S|TTN_uc002unb.2_Missense_Mutation_p.I3384S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4327 Ig-like 20. 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) AGATGGCTTGATTTTCTTGTC 0.368000 20 31 0 0 0.002445 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28279788 28279788 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:28279788G>A uc001bpg.3 + 3 627 c.436G>A c.(436-438)Gga>Aga p.G146R SMPDL3B_uc001bpf.3_Missense_Mutation_p.G146R|SMPDL3B_uc010ofq.2_5'UTR|SMPDL3B_uc010ofr.2_Intron NM_014474 NP_055289 Q92485 ASM3B_HUMAN Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA. 146 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GTTCCCAGCTGGAAGTAACAA 0.398000 27 9 0 0 0.000978 0 0 LIFR 3977 broad.mit.edu 37 5 38506053 38506053 + Silent SNP C T T rs139809889 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:38506053C>T uc010ive.1 - 8 1577 c.1245G>A c.(1243-1245)ccG>ccA p.P415P LIFR_uc003jli.2_Silent_p.P415P NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 415 Fibronectin type-III 2. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity p.P415Q(1) NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATCGACCCAGCGGATTGTGAG 0.294000 T PLAG1 salivary adenoma 132 37 0 0 0.002222 0 0 PPIAL4A 164022 broad.mit.edu 37 1 147955418 147955418 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:147955418G>A uc001eqp.3 - 1 1 c.-74_splice c.e1-1 NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron NM_178230 NP_839944 Q9Y536 PAL4A_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4A (PPIAL4A), mRNA. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity endometrium(1) 1 tgtctttatagtttggccttt 0.398000 107 13 0 0 0.001368 0 0 MAP7 9053 broad.mit.edu 37 6 136667165 136667165 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:136667165C>T uc011edg.2 - 16 2407 c.2158G>A c.(2158-2160)Gaa>Aaa p.E720K MAP7_uc011edf.2_Missense_Mutation_p.E675K|MAP7_uc010kgu.3_Missense_Mutation_p.E712K|MAP7_uc011edh.2_Missense_Mutation_p.E675K|MAP7_uc010kgv.3_Missense_Mutation_p.E712K|MAP7_uc010kgs.3_Missense_Mutation_p.E544K|MAP7_uc011edi.2_Missense_Mutation_p.E544K|MAP7_uc010kgq.2_Missense_Mutation_p.E596K|MAP7_uc003qgz.3_Missense_Mutation_p.E690K|MAP7_uc003qha.2_Missense_Mutation_p.E653K NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 690 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TCAAAATTTTCATTCTGAACA 0.313000 31 8 0 0 0.004482 0 0 RAD17 5884 broad.mit.edu 37 5 68682007 68682007 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:68682007G>A uc003jwo.3 + 7 794 c.732_splice c.e7-1 p.R244_splice RAD17_uc003jwg.3_Splice_Site_p.R233_splice|RAD17_uc003jwi.3_Splice_Site_p.R233_splice|RAD17_uc003jwh.3_Splice_Site_p.R233_splice|RAD17_uc003jwj.3_Splice_Site_p.R233_splice|RAD17_uc003jwk.3_Splice_Site_p.R233_splice|RAD17_uc003jwl.3_Splice_Site_p.R233_splice|RAD17_uc003jwm.3_Splice_Site_p.R68_splice|RAD17_uc003jwn.3_Splice_Site_p.R147_splice NM_133339 NP_579917 O75943 RAD17_HUMAN Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA. 244 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) GTTATTTTAGGAAGTATGTGA 0.328000 Other conserved DNA damage response genes 47 21 0 0 0.001523 0 0 EXT2 2132 broad.mit.edu 37 11 44255677 44255677 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:44255677C>T uc001mya.3 + 11 1974 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L EXT2_uc010rfo.2_Silent_p.L635L|EXT2_uc009ykt.3_Silent_p.L617L|EXT2_uc001mxz.3_Silent_p.L607L NM_000401 NP_000392 Q93063 EXT2_HUMAN Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA. 607 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTTTAATTACCTGTATACCTA 0.423000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 0 21 0 0 0.003954 0 0 FOXD4 2298 broad.mit.edu 37 9 117901 117901 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:117901G>A uc003zfz.3 - 0 517 c.219C>T c.(217-219)ggC>ggT p.G73G NM_207305 NP_997188 Q12950 FOXD4_HUMAN Homo sapiens forkhead box D4 (FOXD4), mRNA. 73 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) TCGGGCCGCCGCCGCCCTCGA 0.721000 2 25 0 0 0.002836 0 0 ADD1 118 broad.mit.edu 37 4 2877717 2877717 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:2877717C>T uc003gfq.3 + 1 263 c.75C>T c.(73-75)ttC>ttT p.F25F ADD1_uc010ico.1_Silent_p.F25F|ADD1_uc003gfo.3_Silent_p.F25F|ADD1_uc003gfp.3_Silent_p.F25F|ADD1_uc003gfr.3_Silent_p.F25F|ADD1_uc003gfs.3_Silent_p.F25F|ADD1_uc003gft.3_Silent_p.F25F NM_014189 NP_054908 P35611 ADDA_HUMAN Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA. 25 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding F-actin capping protein complex|cytosol|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGAGGTACTTCGACCGAGTAG 0.522000 62 34 0 0 0.003271 0 0 PTPRS 5802 broad.mit.edu 37 19 5229345 5229345 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:5229345C>T uc002mbv.3 - 15 2592 c.2358G>A c.(2356-2358)acG>acA p.T786T PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Intron|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 786 Fibronectin type-III 5. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CCGTGTCATCCGTCTCCCACT 0.662000 8 4 0 0 0.000248 0 0 SMCP 4184 broad.mit.edu 37 1 152857234 152857234 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152857234C>T uc021ozk.1 + 0 336 c.336C>T c.(334-336)tcC>tcT p.S112S SMCP_uc001fat.3_Silent_p.S112S NM_030663 NP_109588 P49901 MCSP_HUMAN Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA. 112 penetration of zona pellucida|sperm motility mitochondrial membrane breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1) 8 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AAAATGAGTCCAGGCCAAGCA 0.522000 32 24 0 0 0.003330 0 0 HYDIN 54768 broad.mit.edu 37 16 70954575 70954575 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:70954575G>A uc002ezr.3 - 45 7852 c.7701C>T c.(7699-7701)ttC>ttT p.F2567F NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2568 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) GGATGTCTAGGAAGGGTACGC 0.607000 8 12 0 0 0.001368 0 0 DNAH17 8632 broad.mit.edu 37 17 76554246 76554246 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:76554246C>T uc010dhp.2 - 13 2247 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K DNAH17_uc002jvv.2_Missense_Mutation_p.E410K NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGGAAAGTTTCGTTCTCTGAG 0.453000 23 9 0 0 0.004482 0 0 YARS 8565 broad.mit.edu 37 1 33246732 33246732 + Missense_Mutation SNP C T T rs34213904 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:33246732C>T uc001bvy.1 - 9 1845 c.1057G>A c.(1057-1059)Ggc>Agc p.G353S YARS_uc001bvw.1_Missense_Mutation_p.G13S|YARS_uc001bvx.1_Missense_Mutation_p.G4S NM_003680 NP_003671 P54577 SYYC_HUMAN Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA. 353 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTGGCAGGGCCTTTGGCCATT 0.507000 34 13 0 0 0.001855 0 0 IFRD2 7866 broad.mit.edu 37 3 50329948 50329948 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:50329948G>A uc003czb.3 - 2 310 c.310C>T c.(310-312)Cag>Tag p.Q104* IFRD2_uc011bdp.2_5'UTR NM_006764 NP_006755 Q12894 IFRD2_HUMAN Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA. 0 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCAGAGGCCTGAGCGCGCAGG 0.657000 19 13 0 0 0.003163 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17055097 17055097 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:17055097G>A uc003wxe.3 + 4 777 c.380G>A c.(379-381)cGa>cAa p.R127Q NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA. 127 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) CTAGCCATCCGATACTGTGAC 0.353000 109 29 0 0 0.004878 0 0 OR51A4 401666 broad.mit.edu 37 11 4968319 4968319 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:4968319G>A uc010qys.2 - 0 12 c.12C>T c.(10-12)atC>atT p.I4I NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I4I(2) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGATGTGTTGATAATGGACA 0.383000 9 21 0 0 0.005524 0 0 APC 324 broad.mit.edu 37 5 112174398 112174399 + Missense_Mutation DNP TG GT GT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:112174398_112174399TG>GT uc003kpz.4 + 16 3300_3301 c.3107_3108TG>GT c.(3106-3108)ttg>tGT p.L1036C APC_uc011cvt.2_Missense_Mutation_p.L1018C|APC_uc003kpy.4_Missense_Mutation_p.L1036C|APC_uc010jbz.3_Missense_Mutation_p.L753C|APC_uc010jca.3_Missense_Mutation_p.L336C NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1036 Responsible for down-regulation through a process mediated by direct ubiquitination.|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.Q1035*(1)|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) GATGAGCAGTTGAACTCTGGAA 0.351000 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) 31 18 0 0 0.004672 0 0 SIPA1 6494 broad.mit.edu 37 11 65417270 65417270 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:65417270C>T uc001ofb.2 + 11 2847 c.2680C>T c.(2680-2682)Ccg>Tcg p.P894S SIPA1_uc010rom.1_Missense_Mutation_p.P792S|SIPA1_uc001ofd.2_Missense_Mutation_p.P894S NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 894 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 CAAGGGCAACCCGGCGCCGGA 0.607000 22 9 0 0 0.008291 0 0 IGLL5 100423062 broad.mit.edu 37 22 23235904 23235904 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:23235904G>A uc021wmq.1 + 1 508 c.234G>A c.(232-234)caG>caA p.Q78Q abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Silent_p.Q77Q|IGLL5_uc010gtu.2_Intron|IGLL5_uc021wmr.1_5'Flank NM_001178126 NP_001171597 B9A064 IGLL5_HUMAN Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA. 77 extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 CCAGCCCCCAGAGAGCAGACC 0.652000 5 6 0 0 0.003080 0 0 PAPPA 5069 broad.mit.edu 37 9 119115177 119115177 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:119115177C>T uc004bjn.3 + 15 4538 c.4157C>T c.(4156-4158)tCc>tTc p.S1386F PAPPA_uc011lxq.2_Missense_Mutation_p.S761F NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1386 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGCCTGGATCCTCTCGGAAG 0.517000 9 8 0 0 0.004482 0 0 KIAA1383 54627 broad.mit.edu 37 1 232942542 232942542 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:232942542G>A uc001hvh.2 + 0 1905 c.1773G>A c.(1771-1773)aaG>aaA p.K591K NM_019090 NP_061963 Q9P2G4 K1383_HUMAN Homo sapiens KIAA1383 (KIAA1383), mRNA. 449 breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1) 20 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) AAGCCAAGAAGGATAAGCGTT 0.413000 23 7 0 0 0.001984 0 0 FER1L6 654463 broad.mit.edu 37 8 125094552 125094552 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:125094552T>C uc003yqw.3 + 32 4450 c.4244T>C c.(4243-4245)tTc>tCc p.F1415S AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1415 C2 5. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAAGCCACATTCCCAAAAGAG 0.483000 62 36 0 0 0.006999 0 0 ADRB1 153 broad.mit.edu 37 10 115804274 115804274 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:115804274C>T uc001lba.3 + 0 469 c.383C>T c.(382-384)tCc>tTc p.S128F NM_000684 NP_000675 P08588 ADRB1_HUMAN Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA. 128 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GAGTACGGCTCCTTCTTCTGC 0.652000 34 25 0 0 0.008361 0 0 ACPP 55 broad.mit.edu 37 3 132051046 132051046 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:132051046G>A uc010htp.2 + 3 404 c.314G>A c.(313-315)cGa>cAa p.R105Q ACPP_uc003eon.3_Missense_Mutation_p.R105Q|ACPP_uc003eop.4_Missense_Mutation_p.R105Q NM_001099 NP_001090 P15309 PPAP_HUMAN Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA. 105 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity p.R105Q(4)|p.R105*(1) NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 GTTTATATTCGAAGCACAGAC 0.463000 74 63 0 0 0.003610 0 0 HIRA 7290 broad.mit.edu 37 22 19371175 19371175 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:19371175G>A uc002zpf.1 - 12 1603 c.1383C>T c.(1381-1383)atC>atT p.I461I HIRA_uc011agx.1_Silent_p.I327I|HIRA_uc010grn.1_Silent_p.I461I|HIRA_uc010gro.2_Silent_p.I417I|HIRA_uc010grp.3_Non-coding_Transcript NM_003325 NP_003316 P54198 HIRA_HUMAN Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA. 461 Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.I461I(2) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AGAGAGGCGTGATTCTTCTCC 0.458000 42 35 0 0 0.006999 0 0 FKBP6 8468 broad.mit.edu 37 7 72743404 72743404 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:72743404G>A uc003tya.2 + 2 349 c.217G>A c.(217-219)Gat>Aat p.D73N FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.D68N|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA. 73 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CAGACCCTTCGATTCTAATTA 0.433000 66 65 0 0 0.003610 0 0 ORAI3 93129 broad.mit.edu 37 16 30964558 30964558 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:30964558T>C uc002eac.3 + 1 487 c.281T>C c.(280-282)cTg>cCg p.L94P NM_152288 NP_689501 Q9BRQ5 ORAI3_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA. 94 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 CCACCAGGCCTGCTGGTGGCC 0.597000 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 11 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141081578 141081578 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:141081578G>A uc002tvj.1 - 80 13370 c.12398C>T c.(12397-12399)cCt>cTt p.P4133L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4133 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCATTTTTAGGTCCTGCTCC 0.299000 TSP Lung(27;0.18) 49 34 0 0 0.003755 0 0 ABCB4 5244 broad.mit.edu 37 7 87082419 87082419 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:87082419C>T uc003uiv.1 - 5 453 c.377G>A c.(376-378)gGa>gAa p.G126E ABCB4_uc003uiw.1_Missense_Mutation_p.G126E|ABCB4_uc003uix.1_Missense_Mutation_p.G126E|ABCB4_uc003uiy.3_Missense_Mutation_p.G126E NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 126 ABC transmembrane type-1 1. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AACAAGAACTCCAGCACCCAA 0.353000 40 26 0 0 0.008361 0 0 TTN 7273 broad.mit.edu 37 2 179570047 179570047 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179570047C>T uc021vsy.1 - 99 25951 c.25726G>A c.(25726-25728)Gaa>Aaa p.E8576K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5237K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9503 Ig-like 68. 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) ATATCAATTTCCTCTTCTTCT 0.333000 6 9 0 0 0.004482 0 0 CYP2C19 1557 broad.mit.edu 37 10 96466663 96466663 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:96466663G>A uc001kjv.4 + 4 1091 c.765G>A c.(763-765)ctG>ctA p.L255L CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 255 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) AAGAATCCCTGGACATGAACA 0.338000 43 7 0 0 0.006214 0 0 ABCC3 8714 broad.mit.edu 37 17 48745329 48745329 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:48745329C>T uc002isl.3 + 12 1821 c.1741C>T c.(1741-1743)Ccc>Tcc p.P581S NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 581 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTTAAGACTTCCCCTCAACAT 0.537000 31 8 0 0 0.000978 0 0 CDH1 999 broad.mit.edu 37 16 68835619 68835619 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:68835619C>T uc002ewg.1 + 2 334 c.210C>T c.(208-210)tcC>tcT p.S70S CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.S70S NM_004360 NP_004351 P12830 CADH1_HUMAN Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA. 70 SL -> P (in Ref. 3; AAA61259). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.S70fs*24(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CCTATTTTTCCCTCGACACCC 0.463000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 69 23 0 0 0.003330 0 0 CAMK1G 57172 broad.mit.edu 37 1 209773327 209773327 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:209773327G>A uc001hhd.3 + 3 195 c.93_splice c.e3-1 p.S31_splice CAMK1G_uc001hhf.4_Splice_Site_p.S31_splice|CAMK1G_uc001hhe.3_Splice_Site_p.S31_splice NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 31 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTTCTCCTCAGAGGAGCTTTC 0.468000 23 23 0 0 0.003330 0 0 VPS4B 9525 broad.mit.edu 37 18 61064419 61064420 + Silent DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:61064419_61064420GG>AA uc002lix.3 - 8 1199_1200 c.939_940CC>TT c.(937-942)caccta>caTTta p.313_314HL>HL VPS4B_uc010dpx.3_Silent_p.313_314HL>HL|VPS4B_uc010dpy.3_Silent_p.195_196HL>HL|VPS4B_uc010dpz.1_Silent_p.195_196HL>HL NM_004869 NP_004860 O75351 VPS4B_HUMAN Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA. 313 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 GTGGTCCCTAGGTGCAGTTTAA 0.411000 28 16 0 0 0.004672 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417449 150417449 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:150417449C>T uc003whq.3 + 2 497 c.357C>T c.(355-357)acC>acT p.T119T GIMAP1-GIMAP5_uc022apw.1_Silent_p.T119T NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. TCCTGGTGACCCAGTTGGGTC 0.612000 18 14 0 0 0.004990 0 0 TRRAP 8295 broad.mit.edu 37 7 98563401 98563401 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:98563401C>T uc003upp.3 + 47 7247 c.7038C>T c.(7036-7038)ttC>ttT p.F2346F TRRAP_uc011kis.2_Silent_p.F2328F|TRRAP_uc003upr.3_Silent_p.F2045F NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2346 Interaction with TP53. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGAAGAACTTCATCCAGGCCA 0.527000 26 18 0 0 0.007413 0 0 MCTP2 55784 broad.mit.edu 37 15 94928667 94928667 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:94928667C>T uc002btj.3 + 12 1766 c.1701C>T c.(1699-1701)atC>atT p.I567I MCTP2_uc002bti.2_Silent_p.I567I|MCTP2_uc010boj.3_Silent_p.I296I|MCTP2_uc010bok.3_Silent_p.I567I|MCTP2_uc002btk.4_Silent_p.I155I|MCTP2_uc002btl.3_Silent_p.I155I NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 567 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.I567T(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTAAAGATATCCATGATGTTT 0.368000 55 56 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152281798 152281798 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152281798G>A uc001ezu.1 - 2 5600 c.5564C>T c.(5563-5565)tCc>tTc p.S1855F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1855 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCCCACGGGAGACATCAGA 0.547000 Ichthyosis 158 117 0 0 0.003610 0 0 C1orf173 127254 broad.mit.edu 37 1 75072513 75072513 + Missense_Mutation SNP C T T rs144402838 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:75072513C>T uc001dgg.3 - 9 1480 c.1261G>A c.(1261-1263)Gga>Aga p.G421R CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G215R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 421 Glu-rich. p.K420K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGTTCCTCTCCTTTCTCAGTG 0.408000 29 63 0 0 0.003610 0 0 OR51V1 283111 broad.mit.edu 37 11 5221055 5221055 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5221055G>A uc010qyz.2 - 0 876 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAAAGGTGGGAAAAGGATGT 0.433000 17 23 0 0 0.002780 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033958 52033958 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:52033958C>T uc002pwy.3 - 2 891 c.683G>A c.(682-684)aGa>aAa p.R228K SIGLEC6_uc002pwz.3_Missense_Mutation_p.R228K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.R192K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.R228K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.R228K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.R217K|SIGLEC6_uc010epa.2_Missense_Mutation_p.R217K|SIGLEC6_uc010epb.2_Missense_Mutation_p.R181K NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 228 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTGGATGGTTCTCTCCATGGT 0.632000 15 26 0 0 0.006320 0 0 CAV1 857 broad.mit.edu 37 7 116199329 116199329 + Silent SNP G A A rs142699467 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:116199329G>A uc003vif.2 + 2 803 c.525G>A c.(523-525)caG>caA p.Q175Q CAV1_uc010lke.2_Silent_p.Q144Q|CAV1_uc010lkd.2_Silent_p.Q144Q|CAV1_uc003vig.2_Silent_p.Q144Q|CAV1_uc003vih.3_Silent_p.Q144Q|CAV1_uc010lkf.2_Silent_p.Q144Q NM_001753 NP_001166368 Q03135 CAV1_HUMAN Homo sapiens caveolin 1, caveolae protein, 22kDa (CAV1), transcript variant 1, mRNA. 175 T cell costimulation|blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|triglyceride metabolic process|vasculogenesis|vesicle organization Golgi membrane|apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) TCAACTTGCAGAAAGAAATAT 0.393000 19 15 0 0 0.004990 0 0 TEX34 124783 broad.mit.edu 37 17 43333173 43333173 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:43333173G>A uc002iis.1 - 3 472 c.376C>T c.(376-378)Ccg>Tcg p.P126S LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.P105S NM_152343 NP_689556 Q96LK8 CQ046_HUMAN Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA. 126 AGACTCCACGGTCTGAAGGTC 0.557000 50 45 0 0 0.002852 0 0 EYA4 2070 broad.mit.edu 37 6 133789847 133789847 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:133789847C>T uc011ecs.2 + 10 1264 c.948C>T c.(946-948)ctC>ctT p.L316L EYA4_uc011ecq.2_Silent_p.L262L|EYA4_uc011ecr.2_Silent_p.L262L|EYA4_uc003qec.4_Silent_p.L316L|EYA4_uc003qed.4_Silent_p.L316L|EYA4_uc003qee.4_Silent_p.L293L|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 316 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AGGAATCTCTCCCAGGACTGA 0.408000 48 46 0 0 0.003610 0 0 TEKT1 83659 broad.mit.edu 37 17 6703386 6703386 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:6703386C>T uc002gdt.3 - 7 1327 c.1217G>A c.(1216-1218)gGg>gAg p.G406E TEKT1_uc010vth.2_Missense_Mutation_p.G260E NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 406 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) AGCCCAGACCCCATGGTCTTC 0.488000 67 52 0 0 0.003610 0 0 NLRC3 197358 broad.mit.edu 37 16 3613758 3613758 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:3613758G>T uc010btn.3 - 4 1591 c.1180C>A c.(1180-1182)Cgc>Agc p.R394S NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 394 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCATCTTGCGGCCACCATGG 0.582000 7 8 0.000157383 0.000215793 0.003080 1 0 LRRK2 120892 broad.mit.edu 37 12 40745535 40745535 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:40745535G>A uc001rmg.4 + 44 6697 c.6576_splice c.e44+1 p.E2192_splice LRRK2_uc009zjw.3_Splice_Site_p.E1030_splice|LRRK2_uc001rmi.3_Splice_Site_p.E1025_splice NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 2192 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ACACTTCTGAGGTAAATCCAA 0.363000 18 9 0 0 0.000978 0 0 PTPRK 5796 broad.mit.edu 37 6 128403649 128403649 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:128403649G>A uc003qbk.3 - 9 2077 c.1710C>T c.(1708-1710)ttC>ttT p.F570F PTPRK_uc010kfc.3_Silent_p.F570F|PTPRK_uc003qbj.3_Silent_p.F570F|PTPRK_uc011ebu.2_Silent_p.F570F|PTPRK_uc003qbl.1_Silent_p.F440F|PTPRK_uc011ebv.1_Silent_p.F570F NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 570 Fibronectin type-III 3. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGGCTCTTATGAAAAACTGGT 0.448000 45 39 0 0 0.008740 0 0 NBPF1 55672 broad.mit.edu 37 1 16892268 16892268 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:16892268G>A uc009vos.1 - 26 3812 c.2924C>T c.(2923-2925)cCt>cTt p.P975L AB1_uc001ayw.3_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 975 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAAGACTTCAGGCTCTACTGC 0.488000 537 24 0 0 0.006230 0 0 DNAH8 1769 broad.mit.edu 37 6 38906668 38906668 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:38906668G>A uc021yzh.1 + 78 12020 c.11911G>A c.(11911-11913)Gaa>Aaa p.E3971K DNAH8_uc003ooe.2_Missense_Mutation_p.E3754K|DNAH8_uc003oog.1_Missense_Mutation_p.E203K|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 AGGCCTATACGAAAACCACAA 0.373000 37 13 0 0 0.001855 0 0 ZNF257 113835 broad.mit.edu 37 19 22271303 22271303 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:22271303C>T uc010ecx.3 + 3 920 c.751C>T c.(751-753)Cat>Tat p.H251Y ZNF257_uc010ecy.3_Missense_Mutation_p.H219Y NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN Homo sapiens zinc finger protein 257 (ZNF257), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) TAAGGTAATTCATACTAGAGA 0.393000 25 9 0 0 0.004482 0 0 MLL3 58508 broad.mit.edu 37 7 151880115 151880115 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:151880115T>C uc003wla.3 - 34 5428 c.5209A>G c.(5209-5211)Aaa>Gaa p.K1737E MLL3_uc003wkz.3_Missense_Mutation_p.K798E NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1737 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AAAGGATCTTTAAAAAGCTCC 0.343000 N medulloblastoma 128 120 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9069094 9069094 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:9069094G>A uc002mkp.3 - 2 18556 c.18352C>T c.(18352-18354)Cct>Tct p.P6118S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6120 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.D6117Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGAATGTAGGATCATAGTAG 0.483000 13 6 0 0 0.001168 0 0 CDH11 1009 broad.mit.edu 37 16 65016088 65016088 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:65016088G>A uc002eoi.3 - 7 1550 c.1116C>T c.(1114-1116)atC>atT p.I372I CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.I372I|CDH11_uc010vin.2_Silent_p.I246I|CDH11_uc002eok.1_Non-coding_Transcript NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 372 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTTCTACTGAGATCTTGACGG 0.517000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 55 43 0 0 0.003610 0 0 ITGAL 3683 broad.mit.edu 37 16 30518142 30518142 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:30518142C>T uc002dyi.4 + 20 2649 c.2473C>T c.(2473-2475)Ccg>Tcg p.P825S ITGAL_uc002dyj.4_Missense_Mutation_p.P741S|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 825 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCACTTCCCCCCGGGACTCTC 0.597000 85 27 0 0 0.002096 0 0 LRP1B 53353 broad.mit.edu 37 2 141747170 141747170 + Nonsense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:141747170T>A uc002tvj.1 - 16 3673 c.2701A>T c.(2701-2703)Aag>Tag p.K901* LRP1B_uc010fnl.1_Intron|Y_RNA_uc021vqd.1_5'Flank NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 901 LDL-receptor class A 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGCCATCTCTTGGGGATGCAG 0.408000 TSP Lung(27;0.18) 39 28 0 0 0.007291 0 0 CNGA1 1259 broad.mit.edu 37 4 47938653 47938653 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:47938653G>A uc003gxu.3 - 9 2206 c.2065C>T c.(2065-2067)Cct>Tct p.P689S BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.P620S NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 620 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 AGATCTTTAGGATCACTGCCA 0.453000 94 21 0 0 0.002299 0 0 CABIN1 23523 broad.mit.edu 37 22 24447308 24447308 + Silent SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:24447308T>A uc002zzi.1 + 7 805 c.678T>A c.(676-678)gtT>gtA p.V226V CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Silent_p.V226V|CABIN1_uc010guk.1_Silent_p.V181V|CABIN1_uc002zzk.2_Silent_p.V181V NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 226 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTCACGATGTTTCGGTGAGTG 0.463000 32 31 0 0 0.005524 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599501 136599501 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:136599501G>A uc003qgx.1 - 3 771 c.518C>T c.(517-519)cCc>cTc p.P173L BCLAF1_uc003qgy.1_Missense_Mutation_p.P171L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P171L|BCLAF1_uc003qgw.1_Missense_Mutation_p.P173L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 173 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTCTTCTTGGGGTTCCCCTTC 0.403000 143 46 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179647683 179647683 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179647683C>T uc021vsy.1 - 17 3175 c.2950G>A c.(2950-2952)Gaa>Aaa p.E984K TTN_uc021vsz.1_Missense_Mutation_p.E938K|TTN_uc021vta.1_Missense_Mutation_p.E938K|TTN_uc021vtb.1_Missense_Mutation_p.E938K|TTN_uc002unb.2_Missense_Mutation_p.E984K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 984 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Y983C(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGAACTTTCGATTTGGTAG 0.478000 32 9 0 0 0.008291 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855807 79855807 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:79855807C>T uc010jam.3 - 3 382 c.32G>A c.(31-33)gGa>gAa p.G11E ANKRD34B_uc003kgw.3_Missense_Mutation_p.G11E|ANKRD34B_uc010jan.3_Missense_Mutation_p.G11E|ANKRD34B_uc021yax.1_Missense_Mutation_p.G11E NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA. 11 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CAAGGAATTTCCTTCACTTGA 0.453000 9 15 0 0 0.006122 0 0 DNER 92737 broad.mit.edu 37 2 230231734 230231734 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:230231734T>C uc002vpv.3 - 11 2104 c.1957A>G c.(1957-1959)Atg>Gtg p.M653V NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 653 Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.M653L(2) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ATGATCAGCATAAGGATGAAG 0.562000 14 5 0 0 0.000602 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734845 37734845 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:37734845G>A uc003xkm.2 - 1 652 c.596C>T c.(595-597)tCg>tTg p.S199L RAB11FIP1_uc003xkn.2_Missense_Mutation_p.S199L|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S47L NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 199 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ACTGTCGACCGAAGGTGTCGT 0.463000 69 60 0 0 0.003610 0 0 YME1L1 10730 broad.mit.edu 37 10 27404987 27404987 + Splice_Site SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:27404987A>G uc001iti.3 - 18 2301 c.2091_splice c.e18+1 p.K697_splice YME1L1_uc001itj.3_Splice_Site_p.K640_splice|YME1L1_uc010qdl.2_Splice_Site_p.K607_splice NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 697 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 AAAATCTATTACCTTTTCACT 0.299000 54 53 0 0 0.003610 0 0 RAG1 5896 broad.mit.edu 37 11 36596675 36596675 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:36596675C>T uc021qgb.1 + 0 1821 c.1821C>T c.(1819-1821)gaC>gaT p.D607D RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.D607D NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 607 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.G606G(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAATGGGAGACGTGAGTGAGA 0.468000 Familial Hemophagocytic Lymphohistiocytosis 28 15 0 0 0.003163 0 0 PLCG2 5336 broad.mit.edu 37 16 81971415 81971415 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:81971415C>T uc002fgt.3 + 27 3283 c.3105C>T c.(3103-3105)ggC>ggT p.G1035G NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 1035 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GGCGCACGGGCTACGTTCTGC 0.522000 28 24 0 0 0.005443 0 0 SLC12A9 56996 broad.mit.edu 37 7 100458768 100458769 + Silent DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100458768_100458769CC>TT uc003uwp.3 + 9 1369_1370 c.1227_1228CC>TT c.(1225-1230)ctcctg>ctTTtg p.409_410LL>LL SLC12A9_uc003uwq.3_Silent_p.320_321LL>LL|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.145_146LL>LL|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Silent_p.145_146LL>LL|SLC12A9_uc003uwv.3_5'UTR NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA. 409 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) AGCTGGTGCTCCTGGCTGGGAA 0.599000 31 32 0 0 0.004672 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454172 114454172 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:114454172C>T uc001eeg.3 + 3 1252 c.958C>T c.(958-960)Ccg>Tcg p.P320S DCLRE1B_uc001eeh.3_Missense_Mutation_p.P194S|DCLRE1B_uc001eei.3_Missense_Mutation_p.P194S NM_022836 NP_073747 Q9H816 DCR1B_HUMAN Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA. 320 DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCCCTGATTCCGGACTCTGT 0.552000 Other identified genes with known or suspected DNA repair function 19 10 0 0 0.006214 0 0 C8B 732 broad.mit.edu 37 1 57425765 57425765 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:57425765G>A uc001cyp.3 - 1 244 c.177C>T c.(175-177)acC>acT p.T59T C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Silent_p.T7T NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 59 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.T59T(2)|p.T59I(1) 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 TGGGCATCAGGGTAACATCCA 0.483000 16 29 0 0 0.008361 0 0 SMAD9 4093 broad.mit.edu 37 13 37453736 37453736 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:37453736C>T uc001uvw.3 - 1 434 c.91G>A c.(91-93)Gaa>Aaa p.E31K SMAD9_uc001uvx.3_Missense_Mutation_p.E31K|SMAD9_uc010tep.2_5'UTR NM_001127217 NP_001120689 O15198 SMAD9_HUMAN Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA. 31 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GCCCACTTTTCCTCTTCATCT 0.567000 46 16 0 0 0.004990 0 0 CASP10 843 broad.mit.edu 37 2 202073988 202073988 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:202073988C>T uc002uxj.1 + 8 1536 c.1118C>T c.(1117-1119)cCc>cTc p.P373L CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.P306L|CASP10_uc002uxk.1_Missense_Mutation_p.P330L|CASP10_uc002uxl.2_Missense_Mutation_p.P373L|CASP10_uc002uxm.2_Missense_Mutation_p.P330L NM_032977 NP_116759 Q92851 CASPA_HUMAN Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA. 373 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding p.P373A(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GCCCTCATTCCCATTCGGGAG 0.517000 30 10 0 0 0.000978 0 0 LEPREL1 55214 broad.mit.edu 37 3 189713165 189713165 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:189713165C>T uc011bsk.2 - 1 935 c.547G>A c.(547-549)Gaa>Aaa p.E183K LEPREL1_uc003fsg.3_Missense_Mutation_p.E2K NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 183 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGCTGCATTTCCATGTGCTCA 0.458000 24 18 0 0 0.004990 0 0 SLC15A2 6565 broad.mit.edu 37 3 121616367 121616367 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:121616367G>A uc003eep.2 + 2 479 c.326G>A c.(325-327)gGa>gAa p.G109E SLC15A2_uc011bjn.1_Missense_Mutation_p.G109E NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 109 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TCGTGGTTGGGAAAATTCAAG 0.458000 36 34 0 0 0.002445 0 0 NEK11 79858 broad.mit.edu 37 3 130881365 130881365 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:130881365A>G uc003eny.3 + 10 1402 c.1076A>G c.(1075-1077)aAg>aGg p.K359R NEK11_uc003enx.3_Missense_Mutation_p.K359R|NEK11_uc003eoa.3_Missense_Mutation_p.K359R|NEK11_uc003enz.3_Missense_Mutation_p.K177R|NEK11_uc011blk.2_Missense_Mutation_p.K211R|NEK11_uc011bll.2_Missense_Mutation_p.K254R|NEK11_uc011blm.2_Missense_Mutation_p.K359R NM_024800 NP_079076 Q8NG66 NEK11_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA. 359 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AAAGCCAGGAAGCTGAAGTAA 0.498000 44 40 0 0 0.006999 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799087 25799087 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:25799087G>A uc003nfh.4 - 11 1446 c.1330C>T c.(1330-1332)Cta>Tta p.L444L SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L444L|SLC17A1_uc010jqc.1_Silent_p.L388L NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 444 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TAGAAAATTAGGCCAGTCACA 0.393000 34 48 0 0 0.003610 0 0 SOX9 6662 broad.mit.edu 37 17 70118998 70118998 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:70118998G>A uc002jiw.3 + 1 942 c.570G>A c.(568-570)gaG>gaA p.E190E AK094963_uc002jiv.3_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. 190 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CGGAGGCAGAGGAGGCCACGG 0.667000 37 31 0 0 0.001786 0 0 KCNK5 8645 broad.mit.edu 37 6 39196866 39196866 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:39196866G>A uc003oon.3 - 0 386 c.22C>T c.(22-24)Ctc>Ttc p.L8F NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 8 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GCCGAGGTGAGCAGAGGGCCC 0.632000 34 8 0 0 0.008291 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49791076 49791076 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:49791076C>T uc001jgu.3 - 1 453 c.156G>A c.(154-156)aaG>aaA p.K52K ARHGAP22_uc001jgt.3_Silent_p.K52K|ARHGAP22_uc010qgl.2_Silent_p.K52K|ARHGAP22_uc010qgm.2_Silent_p.K58K|ARHGAP22_uc001jgv.3_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 52 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTGCCAGTTCTTCATGATGC 0.607000 57 43 0 0 0.003214 0 0 WDR72 256764 broad.mit.edu 37 15 53889321 53889321 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:53889321C>T uc002acj.2 - 17 3145 c.3103G>A c.(3103-3105)Gaa>Aaa p.E1035K NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 1035 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCTAGTTCTTCTGTCCATTCC 0.393000 115 30 0 0 0.002096 0 0 KRT9 3857 broad.mit.edu 37 17 39726464 39726464 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:39726464G>A uc002hxe.4 - 1 717 c.651C>T c.(649-651)gaC>gaT p.D217D JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 217 Coil 1B.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) CCACTGTCAGGTCCACAATCT 0.502000 77 87 0 0 0.003610 0 0 BRSK2 9024 broad.mit.edu 37 11 1459553 1459553 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:1459553G>A uc001ltm.3 + 2 595 c.342G>A c.(340-342)gcG>gcA p.A114A BRSK2_uc009ycv.1_Silent_p.A68A|BRSK2_uc001lth.1_Silent_p.A68A|BRSK2_uc001lti.3_Silent_p.A68A|BRSK2_uc001ltl.3_Silent_p.A68A|BRSK2_uc001ltj.3_Silent_p.A68A|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA. 68 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGGAGATCGCGATCCTGAAGC 0.557000 29 22 0 0 0.002780 0 0 KERA 11081 broad.mit.edu 37 12 91445206 91445206 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:91445206G>A uc001tbl.3 - 2 1595 c.976C>T c.(976-978)Cgt>Tgt p.R326C NM_007035 NP_008966 O60938 KERA_HUMAN Homo sapiens keratocan (KERA), mRNA. 326 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 CCATCCAGACGGAGGTAGCGA 0.443000 20 16 0 0 0.004990 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221815 1221816 + Splice_Site DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:1221815_1221816GG>AA uc003jbw.4 + 12 1758 c.1702_splice c.e12-1 p.E568_splice NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 568 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTCTCCCCAGGAGGAATTTCC 0.589000 18 10 0 0 0.004672 0 0 TRPC3 7222 broad.mit.edu 37 4 122854053 122854053 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:122854053G>A uc003ieg.2 - 1 434 c.360C>T c.(358-360)gcC>gcT p.A120A TRPC3_uc010inr.2_Silent_p.A47A|TRPC3_uc003ief.2_Silent_p.A47A|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 35 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.A120V(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGCCGTACTCGGCGGCGTCGA 0.662000 36 13 0 0 0.003163 0 0 LLGL2 3993 broad.mit.edu 37 17 73564710 73564710 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73564710C>T uc002joh.3 + 10 1344 c.1190C>T c.(1189-1191)cCg>cTg p.P397L LLGL2_uc002joi.3_Missense_Mutation_p.P397L|LLGL2_uc010dgg.2_Missense_Mutation_p.P397L|LLGL2_uc002joj.3_Missense_Mutation_p.P386L|LLGL2_uc010wsd.2_Intron NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 397 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCCAACATCCCGCTGAAGCTG 0.652000 35 9 0 0 0.006214 0 0 PPM1F 9647 broad.mit.edu 37 22 22277752 22277752 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:22277752C>T uc002zvp.2 - 7 1225 c.1078G>A c.(1078-1080)Gat>Aat p.D360N PPM1F_uc011aik.2_Missense_Mutation_p.D256N NM_014634 NP_055449 P49593 PPM1F_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA. 360 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) AAGAAGCCATCACAGGCAAGC 0.647000 19 6 0 0 0.003080 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365667 37365667 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:37365667C>T uc003cgv.3 + 13 2650 c.2290C>T c.(2290-2292)Ctc>Ttc p.L764F GOLGA4_uc010hgr.2_Missense_Mutation_p.L325F|GOLGA4_uc003cgw.3_Missense_Mutation_p.L786F|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.L645F NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 764 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding p.L764P(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACTTGAGCTTCTCTTGAAGGA 0.408000 41 12 0 0 0.002450 0 0 PAPPA 5069 broad.mit.edu 37 9 119097311 119097311 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:119097311G>A uc004bjn.3 + 12 3950 c.3569G>A c.(3568-3570)aGc>aAc p.S1190N PAPPA_uc011lxp.1_Missense_Mutation_p.S885N|PAPPA_uc011lxq.2_Missense_Mutation_p.S565N NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1190 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTCACCCTGAGCAGCTGCCAG 0.637000 50 10 0 0 0.000978 0 0 COBRA1 25920 broad.mit.edu 37 9 140151454 140151454 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:140151454C>T uc004cmm.4 + 3 748 c.545C>T c.(544-546)tCt>tTt p.S182F NM_015456 NP_056271 Q8WX92 NELFB_HUMAN Homo sapiens cofactor of BRCA1 (COBRA1), mRNA. 182 S -> A (in Ref. 5). negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 16 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) ACAGAGCTCTCTGTCCTGCAC 0.607000 28 20 0 0 0.003330 0 0 ST18 9705 broad.mit.edu 37 8 53030987 53030987 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:53030987C>T uc003xqz.2 - 18 2926 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K ST18_uc011ldq.1_Missense_Mutation_p.E571K|ST18_uc011ldr.1_Missense_Mutation_p.E889K|ST18_uc011lds.1_Missense_Mutation_p.E829K|ST18_uc003xra.2_Missense_Mutation_p.E924K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 924 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E924K(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTAATTTCTTCATCACTCTCT 0.313000 30 37 0 0 0.003755 0 0 DEFA1 1667 broad.mit.edu 37 8 6873538 6873538 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:6873538C>T uc003wqz.1 - 2 351 c.259G>A c.(259-261)Gga>Aga p.G87R NM_004084 NP_005208 P59665 DEF1_HUMAN Homo sapiens defensin, alpha 1 (DEFA1), mRNA. 87 chemotaxis|defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism|response to virus extracellular space COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118) CAGAGTCTTCCCTGGTAGATG 0.473000 45 13 0 0 0.007413 0 0 RYR2 6262 broad.mit.edu 37 1 237802470 237802470 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:237802470C>T uc001hyl.1 + 45 7204 c.7084C>T c.(7084-7086)Ccc>Tcc p.P2362S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2362 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCGAGATGGTCCCTCACCAAA 0.438000 13 11 0 0 0.001368 0 0 ZNF212 7988 broad.mit.edu 37 7 148951059 148951059 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:148951059G>A uc003wfp.3 + 4 1169 c.1041G>A c.(1039-1041)gaG>gaA p.E347E NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GTACACCTGAGGAGCCAGAGG 0.577000 9 13 0 0 0.001855 0 0 MACROD2 140733 broad.mit.edu 37 20 15210628 15210628 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:15210628A>T uc002wou.3 + 5 725 c.461A>T c.(460-462)aAt>aTt p.N154I MACROD2_uc002wot.3_Missense_Mutation_p.N154I|MACROD2_uc002woz.3_5'UTR NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA. 154 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GGCCATATTAATGGTTCCCAC 0.358000 29 12 0 0 0.002450 0 0 C15orf27 123591 broad.mit.edu 37 15 76496597 76496597 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:76496597G>A uc002bbq.3 + 10 1692 c.1537G>A c.(1537-1539)Gac>Aac p.D513N C15orf27_uc010bkp.3_Intron|C15orf27_uc002bbr.3_Missense_Mutation_p.D329N|C15orf27_uc002bbs.3_Missense_Mutation_p.D191N NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 513 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CATGCTGGAGGACAAGTTCAG 0.547000 66 23 0 0 0.003954 0 0 DNAH5 1767 broad.mit.edu 37 5 13776665 13776665 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:13776665G>A uc003jfd.2 - 54 9298 c.9256C>T c.(9256-9258)Ctc>Ttc p.L3086F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3086 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GAGAAGCAGAGCACAATATGA 0.493000 Kartagener syndrome 33 25 0 0 0.003954 0 0 IGSF21 84966 broad.mit.edu 37 1 18702815 18702815 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:18702815G>A uc001bau.2 + 6 1410 c.1027G>A c.(1027-1029)Gga>Aga p.G343R IGSF21_uc001bav.2_Missense_Mutation_p.G164R NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 343 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGCCCCCAAAGGACCCAAAAT 0.527000 42 56 0 0 0.003610 0 0 DTD1 92675 broad.mit.edu 37 20 18724887 18724887 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:18724887G>A uc002wrf.4 + 4 782 c.621G>A c.(619-621)cgG>cgA p.R207R NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA. 207 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 CCTCTGAACGGGAGCCGTAGC 0.542000 20 6 0 0 0.003080 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171931 207171931 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:207171931G>A uc002vbp.2 + 4 2929 c.2679G>A c.(2677-2679)aaG>aaA p.K893K NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 893 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CTGTTAAAAAGCTAAATCCTC 0.353000 14 26 0 0 0.003330 0 0 EPPK1 83481 broad.mit.edu 37 8 144947143 144947143 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:144947143G>A uc003zaa.1 - 0 292 c.279C>T c.(277-279)ctC>ctT p.L93L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 93 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGACACAGGGAGCAGCTGGC 0.701000 4 6 0 0 0.001984 0 0 IL17RA 23765 broad.mit.edu 37 22 17581300 17581300 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:17581300C>T uc002zly.3 + 4 610 c.479C>T c.(478-480)aCc>aTc p.T160I NM_014339 NP_055154 Q96F46 I17RA_HUMAN Homo sapiens interleukin 17 receptor A (IL17RA), mRNA. 160 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) TATGAGGTGACCGTTCACCAC 0.532000 74 27 0 0 0.004656 0 0 SHANK2 22941 broad.mit.edu 37 11 70332684 70332684 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:70332684G>A uc001oqc.3 - 20 3628 c.3516C>T c.(3514-3516)gcC>gcT p.A1172A SHANK2_uc010rqn.2_Silent_p.A648A|SHANK2_uc001opz.3_Silent_p.A643A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 859 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CGGCCTTGGGGGCCTCCCCTT 0.627000 26 20 0 0 0.002299 0 0 NAV1 89796 broad.mit.edu 37 1 201751423 201751423 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:201751423G>A uc021phi.1 + 5 2130 c.1783G>A c.(1783-1785)Ggc>Agc p.G595S NAV1_uc001gwu.3_Missense_Mutation_p.G595S|NAV1_uc001gwv.1_Missense_Mutation_p.G103S|NAV1_uc001gww.2_Missense_Mutation_p.G204S|NAV1_uc001gwx.3_Missense_Mutation_p.G204S|NAV1_uc001gwy.1_5'UTR NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 595 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.S594L(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GCCCCCCTCGGGCATTGCTCG 0.577000 27 34 0 0 0.002836 0 0 PYHIN1 149628 broad.mit.edu 37 1 158909032 158909032 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:158909032A>G uc001ftb.3 + 3 824 c.574A>G c.(574-576)Act>Gct p.T192A PYHIN1_uc001fta.4_Missense_Mutation_p.T192A|PYHIN1_uc001ftc.3_Missense_Mutation_p.T183A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T192A|PYHIN1_uc001fte.3_Missense_Mutation_p.T183A NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 192 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CACTTCCTCAACTGAGGTACA 0.498000 66 16 0 0 0.008871 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337876 40337876 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:40337876A>C uc003gva.1 + 1 113 c.97A>C c.(97-99)Aag>Cag p.K33Q NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 33 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) ATATGCTCAGAAGTTGTTTAA 0.403000 26 21 0 0 0.001523 0 0 ERN1 2081 broad.mit.edu 37 17 62130643 62130643 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:62130643G>A uc002jdz.2 - 15 2155 c.2042C>T c.(2041-2043)tCc>tTc p.S681F NM_001433 NP_001424 O75460 ERN1_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA. 681 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GATGTTGAGGGAGTGGAGGTG 0.627000 31 7 0 0 0.004482 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109680996 109680996 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:109680996G>A uc003hzc.3 - 2 425 c.244C>T c.(244-246)Cga>Tga p.R82* AGXT2L1_uc010imc.3_Nonsense_Mutation_p.R76*|AGXT2L1_uc011cfm.2_Nonsense_Mutation_p.R42*|AGXT2L1_uc011cfn.2_Nonsense_Mutation_p.R9*|AGXT2L1_uc011cfo.2_Nonsense_Mutation_p.R24* NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA. 82 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding p.S81P(1) autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TGGAGGAATCGAGAATTTGTA 0.418000 15 13 0 0 0.001855 0 0 ATPAF2 91647 broad.mit.edu 37 17 17921864 17921864 + Nonstop_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:17921864C>A uc002gse.1 - 7 1022 c.869G>T c.(868-870)tGa>tTa p.*290L ATPAF2_uc002gsd.1_Intron NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA. 0 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) GCCCAGGCCTCACTCCTTCAG 0.647000 48 14 7.05477e-17 9.77538e-17 0.004990 1 0 MIR29B2 407025 broad.mit.edu 37 1 207975754 207975754 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:207975754C>T uc021pik.1 - 0 c.115G>A MIR29B2_uc001hgr.2_Non-coding_Transcript|MIR29B2_uc009xcm.1_Non-coding_Transcript Homo sapiens microRNA 29c (MIR29C), microRNA. AGCAGTTCCTCTGCAGTCCAC 0.448000 10 9 0 0 0.006214 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24896728 24896728 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:24896728G>T uc001isb.2 - 9 3014 c.2527C>A c.(2527-2529)Cct>Act p.P843T ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P843T|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P678T NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA. 842 signal transduction Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTGAGGCAAGGAGGAACTGTT 0.478000 51 12 6.31663e-08 8.70053e-08 0.003163 1 0 DIDO1 11083 broad.mit.edu 37 20 61511438 61511438 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:61511438G>A uc002ydr.2 - 15 6182 c.5870C>T c.(5869-5871)cCa>cTa p.P1957L DIDO1_uc002yds.2_Missense_Mutation_p.P1957L NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1957 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCTGGGACCTGGCATAAAGTT 0.582000 85 64 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 107087259 107087259 + RNA SNP T G G rs55858290 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:107087259T>G uc021ser.1 - 128 c.5473A>C Parts of antibodies, mostly variable regions. CATTTGCAGATACAGTGAATT 0.478000 49 7 0 0 0.004482 0 0 ZFX 7543 broad.mit.edu 37 X 24229455 24229455 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:24229455C>T uc011mjv.2 + 9 2746 c.2497C>T c.(2497-2499)Cac>Tac p.H833Y ZFX_uc004dbd.2_Missense_Mutation_p.H794Y|ZFX_uc004dbf.3_Missense_Mutation_p.H794Y|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.H794Y|ZFX_uc010nfx.2_Missense_Mutation_p.H565Y|ZFX_uc010nfz.3_Missense_Mutation_p.H450Y NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 794 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 AAAGAACCAGCACATAATGCG 0.418000 0 30 0 0 0.008361 0 0 NWD1 284434 broad.mit.edu 37 19 16918540 16918540 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:16918540C>T uc002neu.4 + 17 4302 c.3880C>T c.(3880-3882)Ccc>Tcc p.P1294S NWD1_uc002net.4_Missense_Mutation_p.P1159S|NWD1_uc002nev.4_Missense_Mutation_p.P1088S|NWD1_uc021uqg.1_Missense_Mutation_p.P1159S NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1294 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GATATGCATTCCCCCTCCCGA 0.592000 42 8 0 0 0.003080 0 0 ABHD15 116236 broad.mit.edu 37 17 27893587 27893588 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:27893587_27893588CC>TT uc002hed.2 - 0 455_456 c.397_398GG>AA c.(397-399)ggg>AAg p.G133K TP53I13_uc002hee.3_5'Flank NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA. 133 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 GGCCACTAGCCCATCGTCCGCC 0.688000 7 8 0 0 0.004672 0 0 POLE 5426 broad.mit.edu 37 12 133237728 133237728 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:133237728C>G uc001uks.1 - 24 2931 c.2887G>C c.(2887-2889)Ggt>Cgt p.G963R POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.G936R NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 963 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCCAGAGAACCGTCTTCATTG 0.532000 DNA polymerases (catalytic subunits) 54 54 0 0 0.003610 0 0 MKI67 4288 broad.mit.edu 37 10 129913558 129913558 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:129913558T>C uc001lke.3 - 6 1309 c.1114A>G c.(1114-1116)Aga>Gga p.R372G MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 372 cell proliferation nucleolus ATP binding|protein C-terminus binding p.R372T(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACAGATTCTCTTCTACCAGTA 0.398000 51 48 0 0 0.003610 0 0 LLGL2 3993 broad.mit.edu 37 17 73569201 73569202 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73569201_73569202CC>TT uc002joh.3 + 19 2721_2722 c.2567_2568CC>TT c.(2566-2568)gcc>gTT p.A856V LLGL2_uc002joi.3_Missense_Mutation_p.A856V|LLGL2_uc010dgg.2_Missense_Mutation_p.A856V|LLGL2_uc002joj.3_Missense_Mutation_p.A845V|LLGL2_uc010wsd.2_Missense_Mutation_p.A483V NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 856 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGTCGTCGAGCCGAGGACTACG 0.653000 15 20 0 0 0.004672 0 0 KRT1 3848 broad.mit.edu 37 12 53074092 53074092 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:53074092C>T uc001sau.1 - 0 100 c.41G>A c.(40-42)gGa>gAa p.G14E KRT1_uc001sav.1_Missense_Mutation_p.G14E NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 14 Gly/Phe/Ser-rich.|Head. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GAAGCCCCCTCCACTTCGGTA 0.537000 31 25 0 0 0.004656 0 0 ABCC12 94160 broad.mit.edu 37 16 48130780 48130780 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:48130780C>T uc002efc.1 - 21 3418 c.3072G>A c.(3070-3072)tgG>tgA p.W1024* ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 1024 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R1023M(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TCAGCGCAAACCACCTGAGAG 0.468000 64 18 0 0 0.002299 0 0 NCOR2 9612 broad.mit.edu 37 12 124821437 124821437 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:124821437G>C uc021rga.1 - 37 6115 c.5998C>G c.(5998-6000)Cgc>Ggc p.R2000G NCOR2_uc021rgb.1_Missense_Mutation_p.R1984G|NCOR2_uc010tbb.2_Missense_Mutation_p.R1993G|NCOR2_uc010tbc.2_Missense_Mutation_p.R1983G|NCOR2_uc021rgc.1_Missense_Mutation_p.R1983G|NCOR2_uc010tax.2_Missense_Mutation_p.R114G NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 2004 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCAGGGGTGCGGGCGATGGTG 0.731000 6 3 0 0 0.004672 0 0 SECTM1 6398 broad.mit.edu 37 17 80280141 80280141 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:80280141C>T uc002keo.3 - 4 1041 c.643G>A c.(643-645)Gag>Aag p.E215K NM_003004 NP_002995 Q8WVN6 SCTM1_HUMAN Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA. 215 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|extracellular space|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GGGGTGGGCTCGGAGTCTGGG 0.637000 33 22 0 0 0.001882 0 0 SLC26A8 116369 broad.mit.edu 37 6 35960329 35960329 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:35960329C>T uc003olm.3 - 5 861 c.750G>A c.(748-750)ggG>ggA p.G250G SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Silent_p.G250G NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 250 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TAATCATAATCCCAAAGATGA 0.468000 39 45 0 0 0.003610 0 0 IRS1 3667 broad.mit.edu 37 2 227662747 227662747 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:227662747G>A uc021vxn.1 - 0 708 c.708C>T c.(706-708)ttC>ttT p.F236F IRS1_uc002voh.4_Silent_p.F236F NM_005544 NP_005535 P35568 IRS1_HUMAN Homo sapiens insulin receptor substrate 1 (IRS1), mRNA. 236 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCTGCATCCAGAACTCCCCGG 0.612000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 22 0 0 0.003954 0 0 AOX1 316 broad.mit.edu 37 2 201480694 201480694 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:201480694G>A uc002uvx.3 + 16 1713 c.1612_splice c.e16-1 p.D538_splice AOX1_uc010zhf.2_Splice_Site_p.D94_splice|AOX1_uc010fsu.3_Splice_Site NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 538 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TACTTTTCAGGATCCAGTTCA 0.398000 23 9 0 0 0.000978 0 0 SPTB 6710 broad.mit.edu 37 14 65270481 65270481 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:65270481C>T uc001xht.3 - 2 369 c.318G>A c.(316-318)ggG>ggA p.G106G SPTB_uc001xhr.3_Silent_p.G106G|SPTB_uc001xhs.3_Silent_p.G106G|SPTB_uc001xhu.3_Silent_p.G106G NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 106 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGCGCATCTTCCCCTTGGTGG 0.607000 8 6 0 0 0.001168 0 0 RRM1 6240 broad.mit.edu 37 11 4147981 4147981 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:4147981T>A uc001lyw.4 + 12 1707 c.1388T>A c.(1387-1389)tTt>tAt p.F463Y RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.F423Y|RRM1_uc010qyc.2_Missense_Mutation_p.F366Y|RRM1_uc010qyd.2_Missense_Mutation_p.F125Y NM_001033 NP_001024 P23921 RIR1_HUMAN Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA. 463 DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) ACATACGACTTTAAGAAGTTG 0.373000 33 20 0 0 0.002299 0 0 GBP7 388646 broad.mit.edu 37 1 89615181 89615181 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:89615181C>T uc001dna.2 - 6 1085 c.946G>A c.(946-948)Gca>Aca p.A316T GBP2_uc001dmy.1_Non-coding_Transcript NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 316 integral to membrane GTP binding|GTPase activity p.A316A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GCCAGAACTGCCATTGCATTC 0.547000 18 9 0 0 0.004482 0 0 CHCHD1 118487 broad.mit.edu 37 10 75541845 75541845 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:75541845C>T uc001jvc.4 + 0 38 c.12C>T c.(10-12)ccC>ccT p.P4P CHCHD1_uc001jvb.2_Silent_p.P4P NM_203298 NP_976043 Q96BP2 CHCH1_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA. 4 nucleus breast(1) 1 Prostate(51;0.0112) TGGCGACACCCAGCCTGCGGG 0.677000 27 11 0 0 0.001368 0 0 ZNF98 148198 broad.mit.edu 37 19 22574587 22574587 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:22574587G>A uc002nqt.2 - 3 1572 c.1450C>T c.(1450-1452)Cat>Tat p.H484Y NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H484Y(3) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TCTCCAGTATGAATTACCTTA 0.378000 35 21 0 0 0.005443 0 0 DNAH11 8701 broad.mit.edu 37 7 21598584 21598584 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:21598584G>A uc003svc.3 + 2 691 c.660G>A c.(658-660)aaG>aaA p.K220K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 220 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGCAGGAAAGATGGATCTGG 0.388000 Kartagener syndrome 5 7 0 0 0.006214 0 0 GPR84 53831 broad.mit.edu 37 12 54757412 54757413 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:54757412_54757413GG>AA uc021qyp.1 - 0 223_224 c.223_224CC>TT c.(223-225)ccc>TTc p.P75F GPR84_uc001sfu.3_Missense_Mutation_p.P75F NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA. 75 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CACAGAGAAGGGCTGAAGGAGC 0.579000 11 4 0 0 0.004672 0 0 DDX60 55601 broad.mit.edu 37 4 169142907 169142907 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:169142907G>A uc003irp.3 - 35 5242 c.4950C>T c.(4948-4950)tcC>tcT p.S1650S DDX60_uc003iro.3_Silent_p.S121S NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1650 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ATCCTATCAAGGAACCATGTT 0.408000 33 24 0 0 0.006320 0 0 MUC16 94025 broad.mit.edu 37 19 9070548 9070548 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:9070548G>A uc002mkp.3 - 2 17102 c.16898C>T c.(16897-16899)tCc>tTc p.S5633F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5635 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 TGACATCAGGGAAAACCCAGA 0.527000 19 4 0 0 0.000248 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047722 42047722 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:42047722G>A uc001cgz.4 - 3 3960 c.2747C>T c.(2746-2748)tCa>tTa p.S916L HIVEP3_uc001cha.4_Missense_Mutation_p.S916L|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 916 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCCCCTGATGATTGGGCCAT 0.597000 26 41 0 0 0.008740 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768291 77768292 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:77768291_77768292GG>AA uc003yau.2 + 9 9521_9522 c.9134_9135GG>AA c.(9133-9135)cgg>cAA p.R3045Q ZFHX4_uc003yaw.1_Missense_Mutation_p.R3000Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3000 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCTCGATCGGGAGAAAGATT 0.515000 HNSCC(33;0.089) 41 16 0 0 0.004672 0 0 MDS2 259283 broad.mit.edu 37 1 23953724 23953724 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:23953724G>A uc001bhi.3 + 2 c.1014G>A MDS2_uc001bhj.3_Non-coding_Transcript Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA. breast(1)|ovary(2) 3 ctgttcaaatggtttttatgt 0.527000 T ETV6 MDS 2 7 0 0 0.001984 0 0 PTGS1 5742 broad.mit.edu 37 9 125145992 125145992 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:125145992G>A uc004bmg.1 + 7 1102 c.967G>A c.(967-969)Ggc>Agc p.G323S PTGS1_uc011lys.1_Missense_Mutation_p.G298S|PTGS1_uc010mwb.1_Missense_Mutation_p.G214S|PTGS1_uc004bmf.1_Missense_Mutation_p.G323S|PTGS1_uc004bmh.1_Missense_Mutation_p.G214S|PTGS1_uc011lyt.1_Missense_Mutation_p.G214S NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 323 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) CCCCACCTGGGGCGATGAGCA 0.597000 27 11 0 0 0.000978 0 0 ZNF391 346157 broad.mit.edu 37 6 27368374 27368374 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:27368374G>A uc003njf.1 + 2 743 c.225G>A c.(223-225)caG>caA p.Q75Q ZNF391_uc021ypw.1_Silent_p.Q75Q NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN Homo sapiens zinc finger protein 391 (ZNF391), mRNA. 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 ACGCACAACAGAAAATTCCAA 0.393000 47 41 0 0 0.002222 0 0 ANK1 286 broad.mit.edu 37 8 41542162 41542162 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:41542162G>A uc003xok.3 - 36 4521 c.4437C>T c.(4435-4437)atC>atT p.I1479I NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.I795I|ANK1_uc003xoi.3_Silent_p.I1479I|ANK1_uc003xoj.3_Silent_p.I1479I|ANK1_uc003xol.3_Silent_p.I1479I|ANK1_uc003xom.3_Silent_p.I1520I NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1479 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCATGTTCACGATCTCGCCAC 0.602000 18 20 0 0 0.002780 0 0 NLRC5 84166 broad.mit.edu 37 16 57060583 57060583 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:57060583C>T uc021tiu.1 + 4 1855 c.1728C>T c.(1726-1728)ttC>ttT p.F576F NLRC5_uc021tit.1_Silent_p.F576F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.F381F|NLRC5_uc021tiw.1_Silent_p.F381F|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 576 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCCGCCCCTTCCTTAGCCACC 0.637000 27 25 0 0 0.005443 0 0 CEACAM5 1048 broad.mit.edu 37 19 42221500 42221500 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:42221500G>A uc002orl.3 + 4 1206 c.1085G>A c.(1084-1086)aGc>aAc p.S362N CEACAM5_uc002orj.1_Missense_Mutation_p.S361N NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 362 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AATAATCAGAGCCTCCCGGTC 0.512000 38 66 0 0 0.003610 0 0 TAF4 6874 broad.mit.edu 37 20 60575634 60575634 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:60575634G>A uc002ybs.3 - 9 2630 c.2630C>T c.(2629-2631)cCt>cTt p.P877L NM_003185 NP_003176 O00268 TAF4_HUMAN Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA. 877 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.A876A(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCTCTGCAAAGGCGCTTGGAG 0.463000 38 28 0 0 0.008361 0 0 CXCR4 7852 broad.mit.edu 37 2 136875622 136875622 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:136875622C>T uc002tuz.3 - 0 104 c.9G>A c.(7-9)ggG>ggA p.G3G CXCR4_uc002tuy.3_5'Flank|CXCR4_uc010fnk.3_5'Flank NM_003467 NP_003458 P61073 CXCR4_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA. 3 Important for chemokine binding, signaling and HIV-1 coreceptor activity. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TTACACTGATCCCCTCCATGG 0.552000 10 11 0 0 0.001368 0 0 LAD1 3898 broad.mit.edu 37 1 201356204 201356204 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:201356204C>T uc001gwm.3 - 2 520 c.285G>A c.(283-285)cgG>cgA p.R95R LAD1_uc009wzu.1_Silent_p.R117R NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 95 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GCCTCTGCCTCCGCTCCTGCC 0.647000 12 13 0 0 0.001368 0 0 FCGBP 8857 broad.mit.edu 37 19 40368475 40368475 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:40368475G>A uc002omp.4 - 27 12881 c.12873C>T c.(12871-12873)ttC>ttT p.F4291F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4291 VWFD 10. extracellular region protein binding p.P4290P(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGGTGGTGAAGGGGCCCC 0.617000 75 15 0 0 0.007413 0 0 COMT 1312 broad.mit.edu 37 22 19951781 19951781 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:19951781C>T uc002zqu.3 + 4 823 c.574C>T c.(574-576)Cac>Tac p.H192Y COMT_uc011ahd.2_Missense_Mutation_p.H192Y|COMT_uc002zqx.3_Missense_Mutation_p.H142Y|COMT_uc021wlm.1_Missense_Mutation_p.H192Y NM_000754 NP_009294 P21964 COMT_HUMAN Homo sapiens catechol-O-methyltransferase (COMT), transcript variant 1, mRNA. 192 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) CTTCCTCGACCACTGGAAGGA 0.592000 27 8 0 0 0.004482 0 0 RGS7 6000 broad.mit.edu 37 1 241031931 241031931 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:241031931G>A uc001hyt.2 - 1 115 c.61C>T c.(61-63)Ctt>Ttt p.L21F RGS7_uc010pyh.2_Missense_Mutation_p.L163F|RGS7_uc010pyj.1_Missense_Mutation_p.L105F|RGS7_uc001hyu.2_Missense_Mutation_p.L189F|RGS7_uc009xgn.1_Missense_Mutation_p.L136F|RGS7_uc001hyv.2_Missense_Mutation_p.L189F|RGS7_uc001hyw.2_Missense_Mutation_p.L189F NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 189 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGGCTGTCAAGGATCTTCCTT 0.458000 39 26 0 0 0.006320 0 0 HYDIN 54768 broad.mit.edu 37 16 70942619 70942619 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:70942619G>A uc002ezr.3 - 47 8298 c.8147C>T c.(8146-8148)tCc>tTc p.S2716F NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2717 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) TGACAGCTGGGAAATGGTTCC 0.517000 21 8 0 0 0.006214 0 0 KIF12 113220 broad.mit.edu 37 9 116857589 116857589 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:116857589C>T uc004bif.3 - 6 743 c.505G>A c.(505-507)Gac>Aac p.D169N KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 302 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CGCTGTGGGTCCAGCAGCAGG 0.602000 10 13 0 0 0.001855 0 0 TGM1 7051 broad.mit.edu 37 14 24730980 24730980 + Silent SNP G A A rs144989372 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:24730980G>A uc001wod.3 - 2 553 c.429C>T c.(427-429)cgC>cgT p.R143R TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank NM_000359 NP_000350 P22735 TGM1_HUMAN Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. 143 R -> C (in LI1 and NCIE).|R -> H (in LI1). cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AAGGCTGCCCGCGGCGCACTA 0.577000 35 40 0 0 0.005524 0 0 ASXL3 80816 broad.mit.edu 37 18 31318725 31318725 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:31318725G>A uc010dmg.1 + 10 1412 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K ASXL3_uc002kxq.2_Missense_Mutation_p.E160K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATTCAGGAGGAAATTGCAGA 0.393000 43 19 0 0 0.003954 0 0 PCCA 5095 broad.mit.edu 37 13 100861600 100861600 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:100861600C>T uc001voo.3 + 6 589 c.483C>T c.(481-483)gtC>gtT p.V161V PCCA_uc010aga.3_Silent_p.V135V|PCCA_uc010tiz.2_Silent_p.V161V NM_000282 NP_000273 P05165 PCCA_HUMAN Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 161 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) CAGAAGATGTCGTTTTCATTG 0.383000 58 45 0 0 0.003610 0 0 SLC12A2 6558 broad.mit.edu 37 5 127516636 127516636 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:127516636C>T uc003kus.3 + 22 3326 c.3162C>T c.(3160-3162)atC>atT p.I1054I SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.I1038I NM_001046 NP_001037 P55011 S12A2_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA. 1054 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ACTGTAAGATCAGAGTATTCA 0.338000 103 48 0 0 0.003610 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642489 127642489 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:127642489G>A uc010hsr.3 + 0 588 c.585G>A c.(583-585)ctG>ctA p.L195L KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.L195L NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 195 BACK. endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 AGAGCATTCTGGACTTAGTTC 0.358000 21 19 0 0 0.007413 0 0 OR1L8 138881 broad.mit.edu 37 9 125330187 125330187 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:125330187G>A uc004bmp.1 - 0 570 c.570C>T c.(568-570)tgC>tgT p.C190C NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ATATGGAAGAGCAGGACAATT 0.438000 22 28 0 0 0.006320 0 0 ARMC3 219681 broad.mit.edu 37 10 23250858 23250858 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:23250858C>T uc001irm.4 + 6 666 c.583C>T c.(583-585)Cct>Tct p.P195S ARMC3_uc010qcv.2_Missense_Mutation_p.P195S|ARMC3_uc010qcw.2_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA. 195 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGCAATACCTCCTATCTTAGA 0.353000 28 15 0 0 0.003163 0 0 PHLPP2 23035 broad.mit.edu 37 16 71701093 71701093 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:71701093G>A uc002fax.3 - 10 1778 c.1772C>T c.(1771-1773)tCc>tTc p.S591F PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S591F NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 591 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TAAGGCCTTGGAGAAGAGGGT 0.463000 48 43 0 0 0.003610 0 0 OR2F1 26211 broad.mit.edu 37 7 143657918 143657918 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:143657918G>A uc003wds.1 + 0 899 c.855G>A c.(853-855)ctG>ctA p.L285L NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CACCAATGCTGAACCCCATGA 0.453000 34 23 0 0 0.003330 0 0 C17orf28 283987 broad.mit.edu 37 17 72952020 72952020 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:72952020C>T uc002jmj.4 - 12 1652 c.1503G>A c.(1501-1503)gtG>gtA p.V501V C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Silent_p.V300V NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 501 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) TGTTGGCAGTCACCATGGACA 0.627000 62 31 0 0 0.003271 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141656 133141656 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:133141656C>T uc003ytj.3 - 14 2697 c.2472G>A c.(2470-2472)tcG>tcA p.S824S KCNQ3_uc003yti.3_Silent_p.S704S|KCNQ3_uc010mdt.3_Silent_p.S812S NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 824 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.G823E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCATCCAGCTCGACCCCCCAT 0.622000 12 6 0 0 0.001984 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99025843 99025843 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:99025843G>A uc001knb.3 - 1 142 c.96C>T c.(94-96)tcC>tcT p.S32S ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Silent_p.S23S|ARHGAP19_uc009xvj.3_Silent_p.S32S|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA. 32 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) GACCTCGAAGGGAAGAATCAT 0.393000 47 9 0 0 0.004482 0 0 CDHR2 54825 broad.mit.edu 37 5 176011610 176011610 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:176011610G>A uc021yie.1 + 18 2602 c.2328G>A c.(2326-2328)ttG>ttA p.L776L CDHR2_uc003mem.2_Silent_p.L776L|CDHR2_uc003men.1_Silent_p.L776L NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 776 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCTTCAACTTGACAGTGAGTG 0.612000 12 21 0 0 0.001523 0 0 SKAP2 8935 broad.mit.edu 37 7 26893780 26893780 + Splice_Site SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:26893780A>G uc003syc.3 - 3 467 c.174_splice c.e3-1 p.I58_splice SKAP2_uc011jzi.2_Splice_Site|SKAP2_uc011jzj.2_Splice_Site_p.I43_splice NM_003930 NP_003921 O75563 SKAP2_HUMAN Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA. 58 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 TCCTGAAGATAGCTACAAAAC 0.259000 34 15 0 0 0.007413 0 0 LRRC4B 94030 broad.mit.edu 37 19 51020884 51020884 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:51020884C>T uc002pss.3 - 2 2223 c.2086G>A c.(2086-2088)Gaa>Aaa p.E696K ASPDH_uc002psr.4_5'Flank NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 696 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGCAGAGGTTCGTGGATGGAG 0.697000 16 5 0 0 0.001168 0 0 FAM83C 128876 broad.mit.edu 37 20 33879806 33879806 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:33879806C>T uc021wck.1 - 0 420 c.302G>A c.(301-303)gGg>gAg p.G101E FAM83C_uc002xcb.1_5'UTR NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 101 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCGGTCTGGCCCGGAGGCCTC 0.672000 16 13 0 0 0.001368 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39566105 39566105 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:39566105C>T uc021txj.1 + 1 c.1526C>T Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA. AACCCCAACTCACTTGGTCCT 0.507000 5 5 0 0 0.000602 0 0 OR8B2 26595 broad.mit.edu 37 11 124253153 124253153 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:124253153G>A uc010sai.2 - 0 87 c.87C>T c.(85-87)ttC>ttT p.F29F OR8B2_uc001qab.3_Non-coding_Transcript NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTAGAAACAGGAAAAAGAGGG 0.413000 37 16 0 0 0.004990 0 0 ZNF556 80032 broad.mit.edu 37 19 2873517 2873517 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:2873517G>A uc002lwp.1 + 1 114 c.27G>A c.(25-27)gtG>gtA p.V9V ZNF556_uc002lwq.3_Silent_p.V9V NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 9 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGAAGACGTGGTTGTGGATT 0.488000 55 15 0 0 0.002450 0 0 CDKL1 8814 broad.mit.edu 37 14 50844376 50844376 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:50844376G>A uc010anu.2 - 9 1426 c.1426C>T c.(1426-1428)Ccc>Tcc p.P476S CDKL1_uc001wxz.3_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA. 0 cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) GGAGCCCAGGGAGGTGTAGCA 0.532000 18 6 0 0 0.001168 0 0 ITGA8 8516 broad.mit.edu 37 10 15701017 15701017 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:15701017T>G uc001ioc.1 - 9 929 c.929A>C c.(928-930)cAg>cCg p.Q310P ITGA8_uc010qcb.1_Missense_Mutation_p.Q295P NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 310 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CGTGAAATTCTGAATAAACGT 0.318000 34 9 0 0 0.008291 0 0 ADCK3 56997 broad.mit.edu 37 1 227152872 227152872 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:227152872C>T uc001hqm.1 + 7 3768 c.349C>T c.(349-351)Cct>Tct p.P117S ADCK3_uc010pvp.1_Missense_Mutation_p.P80S|ADCK3_uc001hqn.1_Missense_Mutation_p.P117S|ADCK3_uc009xeq.1_Missense_Mutation_p.P65S|ADCK3_uc010pvq.1_Intron|ADCK3_uc010pvr.1_5'Flank NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA. 117 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GGGCCCAGCTCCTGCCTACGT 0.682000 17 5 0 0 0.000602 0 0 DSCR6 53820 broad.mit.edu 37 21 38390367 38390367 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:38390367G>A uc002yvv.3 + 3 643 c.433G>A c.(433-435)Gaa>Aaa p.E145K DSCR6_uc011aec.2_Silent_p.R31R|DSCR6_uc010gnd.3_Silent_p.R31R NM_018962 NP_061835 P57055 DSCR6_HUMAN Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA. 145 nucleus NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(46;0.0632) AGGTCGGCAGGAAAATGGCCC 0.632000 7 4 0 0 0.000602 0 0 ATF6B 1388 broad.mit.edu 37 6 32083638 32083638 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:32083638G>A uc003nzn.3 - 17 2023 c.1990C>T c.(1990-1992)Ccc>Tcc p.P664S TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.P661S NM_004381 NP_004372 Q99941 ATF6B_HUMAN Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA. 664 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 CGGAGCGAGGGGGGCACTGTG 0.642000 325 42 0 0 0.003610 0 0 FGFR2 2263 broad.mit.edu 37 10 123279667 123279667 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:123279667C>T uc021pzz.1 - 6 1412 c.765G>A c.(763-765)cgG>cgA p.R255R FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Silent_p.R140R|FGFR2_uc021pzx.1_Silent_p.R166R|FGFR2_uc021pzy.1_Silent_p.R255R|FGFR2_uc010qtl.2_Silent_p.R255R|FGFR2_uc010qtm.2_Silent_p.R140R|FGFR2_uc021qaa.1_Silent_p.R255R|FGFR2_uc021qab.1_Silent_p.R166R|FGFR2_uc021qac.1_Silent_p.R185R|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.R274R|FGFR2_uc010qto.2_Silent_p.R159R|FGFR2_uc001lfo.1_Silent_p.R274R|FGFR2_uc010qtp.2_Silent_p.R274R|FGFR2_uc001lfg.4_5'Flank NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 255 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGAGGATGGGCCGGTGAGGCG 0.567000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 13 9 0 0 0.004482 0 0 DNM1 1759 broad.mit.edu 37 9 130982538 130982538 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:130982538G>A uc022bob.1 + 5 854 c.767G>A c.(766-768)cGa>cAa p.R256Q DNM1_uc022bnx.1_Missense_Mutation_p.R256Q|DNM1_uc022bny.1_Missense_Mutation_p.R256Q|DNM1_uc022bnz.1_Missense_Mutation_p.R256Q|DNM1_uc022boa.1_Missense_Mutation_p.R256Q NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 256 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.R256L(3) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GCTGCTGAACGAAAGTTCTTC 0.547000 83 17 0 0 0.001523 0 0 BTAF1 9044 broad.mit.edu 37 10 93784552 93784552 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:93784552G>A uc001khr.3 + 34 5001 c.4903G>A c.(4903-4905)Gag>Aag p.E1635K NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 1635 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CAGCACTTCCGAGAGTGGCAC 0.418000 27 30 0 0 0.002445 0 0 SUN5 140732 broad.mit.edu 37 20 31573680 31573680 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:31573680G>A uc002wyi.3 - 10 852 c.759C>T c.(757-759)gcC>gcT p.A253A NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 253 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CACCCTCAAAGGCCCAGCAAT 0.547000 12 16 0 0 0.004990 0 0 CDH8 1006 broad.mit.edu 37 16 61687684 61687684 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:61687684G>A uc002eog.2 - 11 3183 c.2228C>T c.(2227-2229)tCc>tTc p.S743F NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 743 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S743P(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TATCTGAATGGAGTCATATGG 0.498000 32 11 0 0 0.008291 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170117 207170117 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:207170117C>T uc002vbp.2 + 4 1115 c.865C>T c.(865-867)Cat>Tat p.H289Y NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 289 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CTTGAAATTCCATGAACGCAT 0.358000 7 20 0 0 0.001523 0 0 PRDM15 63977 broad.mit.edu 37 21 43256264 43256264 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:43256264C>G uc002yzq.1 - 16 2445 c.2334G>C c.(2332-2334)gaG>gaC p.E778D PRDM15_uc002yzo.3_Missense_Mutation_p.E449D|PRDM15_uc002yzp.3_Missense_Mutation_p.E449D|PRDM15_uc002yzr.1_Missense_Mutation_p.E449D NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GCTTTAGGCTCTCTTTGCGGC 0.488000 21 23 0 0 0.008361 0 0 KIAA0240 23506 broad.mit.edu 37 6 42797154 42797154 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:42797154G>A uc003osn.1 + 5 1234 c.1083G>A c.(1081-1083)gtG>gtA p.V361V KIAA0240_uc003osm.1_Silent_p.V361V|KIAA0240_uc011duw.1_Silent_p.V361V|KIAA0240_uc003oso.1_Silent_p.V361V|KIAA0240_uc003osp.1_Silent_p.V361V NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 361 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) ACATGTCTGTGAACATTGTAA 0.498000 116 28 0 0 0.005443 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761718 130761718 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:130761718G>T uc003qcb.3 + 1 2529 c.151G>T c.(151-153)Gtt>Ttt p.V51F TMEM200A_uc003qca.3_Missense_Mutation_p.V51F|TMEM200A_uc010kfh.3_Missense_Mutation_p.V51F|TMEM200A_uc010kfi.3_Missense_Mutation_p.V51F|TMEM200A_uc021zfg.1_Missense_Mutation_p.V51F NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 51 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TGTTGTGGTTGTTCGTGGCAA 0.502000 67 24 1.10923e-09 1.52996e-09 0.002780 1 0 CDH16 1014 broad.mit.edu 37 16 66946255 66946255 + Missense_Mutation SNP C T T rs147611353 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:66946255C>T uc002eql.3 - 11 1632 c.1438G>A c.(1438-1440)Gag>Aag p.E480K CDH16_uc010cdy.3_Missense_Mutation_p.E480K|CDH16_uc021tjx.1_Missense_Mutation_p.E480K|CDH16_uc002eqm.3_Missense_Mutation_p.E383K NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 480 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AAGGCGGGCTCGAGGTCAGCA 0.577000 32 23 0 0 0.004656 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71377056 71377056 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:71377056C>T uc002sht.2 + 10 2309 c.1957C>T c.(1957-1959)Caa>Taa p.Q653* NM_005791 NP_005782 O00566 MPP10_HUMAN Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA. 653 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 ATTACAAGATCAAGTAAAAAT 0.294000 38 19 0 0 0.006122 0 0 SLC2A4 6517 broad.mit.edu 37 17 7186858 7186858 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7186858C>T uc002gfp.3 + 2 417 c.217C>T c.(217-219)Cct>Tct p.P73S SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.P63S NM_001042 NP_001033 P14672 GTR4_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA. 73 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CAGCTCCATCCCTCCAGGCAC 0.597000 26 35 0 0 0.004878 0 0 CPQ 10404 broad.mit.edu 37 8 98155407 98155407 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:98155407C>T uc003yhw.3 + 7 1581 c.1415C>T c.(1414-1416)tCc>tTc p.S472F NM_016134 NP_057218 Q9Y646 PGCP_HUMAN Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA. 472 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity CTGCCTAGGTCCTAGAAACAG 0.428000 54 10 0 0 0.008291 0 0 RNF145 153830 broad.mit.edu 37 5 158588570 158588571 + Missense_Mutation DNP CT GG GG TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:158588570_158588571CT>GG uc010jiq.2 - 9 1569_1570 c.1419_1420AG>CC c.(1417-1422)ccagtg>ccCCtg p.V474L RNF145_uc011ddy.2_Missense_Mutation_p.V458L|RNF145_uc003lxo.2_Missense_Mutation_p.V472L|RNF145_uc011ddz.2_Missense_Mutation_p.V461L|RNF145_uc003lxp.3_Missense_Mutation_p.V444L|RNF145_uc021ygv.1_5'Flank NM_001199380 NP_001186309 Q96MT1 RN145_HUMAN Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA. 444 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGTTTTCCACTGGCTCTTTTC 0.401000 7 24 0 0 0.004672 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991306 35991306 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:35991306G>A uc003jjv.2 - 0 230 c.37C>T c.(37-39)Ctt>Ttt p.L13F UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.L13F|UGT3A1_uc011cor.2_Missense_Mutation_p.L13F|UGT3A1_uc003jjy.2_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 13 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCAGAAAGAAGGAAGGCCACT 0.607000 40 14 0 0 0.004007 0 0 POP1 10940 broad.mit.edu 37 8 99146750 99146750 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:99146750C>T uc003yij.4 + 6 974 c.874C>T c.(874-876)Ctt>Ttt p.L292F POP1_uc011lgv.2_Missense_Mutation_p.L292F|POP1_uc003yik.3_Missense_Mutation_p.L292F NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 292 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CCAAGGGAGCCTTGTGCTTTA 0.502000 50 14 0 0 0.004990 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22969266 22969266 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:22969266G>A uc003xcy.3 + 1 402 c.94G>A c.(94-96)Gag>Aag p.E32K TNFRSF10C_uc011kzr.2_Intron NM_003841 NP_003832 O14798 TR10C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA. 32 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TGCCCGGCAGGAGGAAGTTCC 0.557000 22 6 0 0 0.001984 0 0 DMWD 1762 broad.mit.edu 37 19 46289820 46289820 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:46289820G>A uc002pdj.1 - 2 980 c.934C>T c.(934-936)Cac>Tac p.H312Y DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_5'UTR NM_004943 NP_004934 Q09019 DMWD_HUMAN Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA. 312 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GAGTCGAAGTGGAAGACGCGC 0.662000 16 8 0 0 0.003080 0 0 UNC5B 219699 broad.mit.edu 37 10 73056460 73056460 + Silent SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:73056460G>C uc001jro.3 + 14 2902 c.2451G>C c.(2449-2451)ggG>ggC p.G817G UNC5B_uc001jrp.3_Silent_p.G806G NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 817 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 AAGTGGAAGGGGAGGGCCAGA 0.612000 35 12 0 0 0.001855 0 0 USH2A 7399 broad.mit.edu 37 1 216270453 216270453 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:216270453C>T uc001hku.1 - 21 5117 c.4730G>A c.(4729-4731)gGa>gAa p.G1577E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1577 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATAAAGACGTCCCTTCTTCAA 0.368000 HNSCC(13;0.011) 26 14 0 0 0.002450 0 0 EDNRA 1909 broad.mit.edu 37 4 148453712 148453712 + Silent SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:148453712A>T uc003iky.3 + 3 1133 c.603A>T c.(601-603)gtA>gtT p.V201V EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.N159Y|EDNRA_uc010ipf.1_Intron NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 201 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTCCTTTGGTAACTGCCATTG 0.443000 80 25 0 0 0.004656 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475784 27475784 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:27475784G>A uc002dov.2 - 33 5769 c.5729C>T c.(5728-5730)cCa>cTa p.P1910L GTF3C1_uc002dou.3_Missense_Mutation_p.P1910L NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1910 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GGGTGGAGATGGGGCCTGGGC 0.642000 34 40 0 0 0.007835 0 0 CACNA1E 777 broad.mit.edu 37 1 181741302 181741302 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:181741302G>A uc009wxt.3 + 36 5269 c.5074G>A c.(5074-5076)Gaa>Aaa p.E1692K CACNA1E_uc001gow.3_Missense_Mutation_p.E1692K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1673K|CACNA1E_uc001gox.1_Missense_Mutation_p.E918K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1692 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 GAACGAGAACGAACGCTGCGG 0.557000 47 39 0 0 0.008740 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43825278 43825278 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:43825278C>T uc010skx.2 - 21 3118 c.3118G>A c.(3118-3120)Gga>Aga p.G1040R ADAMTS20_uc001rno.1_Missense_Mutation_p.G194R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G194R NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1040 TSP type-1 5. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGCTTTGTTCCTTTACCACAT 0.383000 87 43 0 0 0.003610 0 0 SLC12A3 6559 broad.mit.edu 37 16 56947280 56947280 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:56947280G>A uc002ekd.4 + 25 3085 c.3056G>A c.(3055-3057)gGa>gAa p.G1019E SLC12A3_uc010ccm.3_Missense_Mutation_p.G1010E|SLC12A3_uc010ccn.3_Missense_Mutation_p.G1018E NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 1010 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTGATCCGAGGAAACCAGGAA 0.552000 52 47 0 0 0.003610 0 0 EPHX1 2052 broad.mit.edu 37 1 226026479 226026479 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:226026479C>T uc001hpk.3 + 3 569 c.489C>T c.(487-489)ctC>ctT p.L163L EPHX1_uc001hpl.3_Silent_p.L163L NM_001136018 NP_001129490 P07099 HYEP_HUMAN Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA. 163 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) TCATCCCACTCCTGACTGACC 0.572000 36 47 0 0 0.003610 0 0 TRPM3 80036 broad.mit.edu 37 9 73461349 73461349 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:73461349G>A uc004aid.3 - 3 865 c.621C>T c.(619-621)ctC>ctT p.L207L TRPM3_uc004ahu.3_Silent_p.L37L|TRPM3_uc004ahv.3_Silent_p.L37L|TRPM3_uc004ahw.3_Silent_p.L54L|TRPM3_uc004ahx.3_Silent_p.L54L|TRPM3_uc004ahy.3_Silent_p.L54L|TRPM3_uc004ahz.3_Silent_p.L54L|TRPM3_uc004aia.3_Silent_p.L54L|TRPM3_uc004aib.3_Silent_p.L54L|TRPM3_uc004aic.3_Silent_p.L207L|TRPM3_uc010mor.3_Silent_p.L207L|TRPM3_uc004aie.3_Silent_p.L54L|TRPM3_uc004aif.3_Silent_p.L54L|TRPM3_uc004aig.3_Silent_p.L54L|TRPM3_uc004aii.3_Silent_p.L209L NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 207 integral to membrane calcium channel activity p.A206S(2) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTGCTTTGATGAGCCCTTTCC 0.483000 89 68 0 0 0.003610 0 0 ZNF512 84450 broad.mit.edu 37 2 27830716 27830716 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:27830716C>T uc002rla.3 + 9 1028 c.941C>T c.(940-942)tCc>tTc p.S314F ZNF512_uc010ylw.2_Missense_Mutation_p.S285F|ZNF512_uc002rlb.3_Missense_Mutation_p.S235F|ZNF512_uc010ylx.2_Missense_Mutation_p.S235F|ZNF512_uc002rlc.3_Missense_Mutation_p.S235F|ZNF512_uc010ylv.2_Missense_Mutation_p.S235F|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.S207F NM_032434 NP_115810 Q96ME7 ZN512_HUMAN Homo sapiens zinc finger protein 512 (ZNF512), mRNA. 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) TTGCAGATATCCTTCTTTCCA 0.468000 17 11 0 0 0.002450 0 0 GABRA2 2555 broad.mit.edu 37 4 46252353 46252353 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:46252353C>T uc011bzc.1 - 9 1755 c.1343G>A c.(1342-1344)aGa>aAa p.R448K GABRA2_uc003gxc.3_Missense_Mutation_p.R443K|GABRA2_uc010igc.2_Missense_Mutation_p.R443K P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 443 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.R443K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TACAGGTTCTCTGTTTAAATA 0.348000 66 19 0 0 0.008871 0 0 AGA 175 broad.mit.edu 37 4 178361493 178361493 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:178361493G>A uc003iuu.2 - 1 343 c.215C>T c.(214-216)tCt>tTt p.S72F AGA_uc003iuw.3_Missense_Mutation_p.S72F|AGA_uc003iuv.2_Non-coding_Transcript NM_000027 NP_000018 P20933 ASPG_HUMAN Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA. 72 S -> P (in AGU; Arab. Specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum). asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) AAAGCCTACAGAGCCGTCACA 0.498000 55 85 0 0 0.003610 0 0 KLHL36 79786 broad.mit.edu 37 16 84690691 84690691 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:84690691C>T uc002fig.3 + 2 419 c.278C>T c.(277-279)tCc>tTc p.S93F KLHL36_uc010chl.3_Missense_Mutation_p.S92F NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA. 93 BTB. endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATCGGCGCCTCCTACATTGGG 0.607000 22 11 0 0 0.001368 0 0 FCGRT 2217 broad.mit.edu 37 19 50029284 50029284 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:50029284C>T uc002pog.2 + 5 1228 c.1006C>T c.(1006-1008)Cgt>Tgt p.R336C FCGRT_uc002poe.2_Missense_Mutation_p.R336C|FCGRT_uc002poi.2_Non-coding_Transcript|RCN3_uc002poj.3_5'Flank NM_004107 NP_004098 P55899 FCGRN_HUMAN Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA. 336 antigen processing and presentation|female pregnancy|immune response MHC class I protein complex|integral to membrane IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) GATCTCCCTTCGTGGAGACGA 0.597000 87 30 0 0 0.002836 0 0 KANK2 25959 broad.mit.edu 37 19 11285256 11285256 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:11285256C>G uc002mqm.3 - 6 2064 c.1985G>C c.(1984-1986)cGg>cCg p.R662P KANK2_uc021upe.1_Missense_Mutation_p.R654P|KANK2_uc002mqo.4_Missense_Mutation_p.R654P|KANK2_uc002mqp.1_Missense_Mutation_p.R463P NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA. 654 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GTCCAGCAGCCGCGCAGACAT 0.667000 3 3 0 0 0.004672 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708045 126708045 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:126708045C>T uc003ejg.3 + 0 609 c.609C>T c.(607-609)agC>agT p.S203S NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 203 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CACTGTCCAGCCGTCGGCTCA 0.617000 38 7 0 0 0.004482 0 0 ITLN2 142683 broad.mit.edu 37 1 160920899 160920899 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:160920899C>T uc001fxd.3 - 3 433 c.375G>A c.(373-375)ggG>ggA p.G125G ITLN2_uc009wts.3_Silent_p.G124G|ITLN2_uc010pju.2_Silent_p.G42G NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN Homo sapiens intelectin 2 (ITLN2), mRNA. 125 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGTTGCCATCCCCCTCTGGGT 0.592000 15 22 0 0 0.002299 0 0 OR52D1 390066 broad.mit.edu 37 11 5510570 5510570 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5510570C>A uc010qzg.2 + 0 656 c.634C>A c.(634-636)Ctg>Atg p.L212M HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATGGGACTGGATTCCAT 0.493000 78 68 2.17656e-39 3.02847e-39 0.003610 1 0 CMKLR1 1240 broad.mit.edu 37 12 108686645 108686645 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:108686645G>A uc009zuw.3 - 2 286 c.95C>T c.(94-96)tCc>tTc p.S32F CMKLR1_uc001tmw.3_Missense_Mutation_p.S32F|CMKLR1_uc001tmv.3_Missense_Mutation_p.S30F|CMKLR1_uc009zuv.3_Missense_Mutation_p.S32F|CMKLR1_uc021rdj.1_Missense_Mutation_p.S30F NM_001142345 NP_004063 Q99788 CML1_HUMAN Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA. 32 chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 TTCCAAGGGGGATAAGTCCTC 0.488000 17 9 0 0 0.004482 0 0 MURC 347273 broad.mit.edu 37 9 103348047 103348047 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:103348047G>A uc004bba.3 + 2 499 c.409_splice c.e2-1 p.E137_splice NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN Homo sapiens muscle-related coiled-coil protein (MURC), mRNA. 137 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) TCTCCTTCAGGAGAAGTTTCG 0.428000 14 6 0 0 0.001984 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64635377 64635378 + Missense_Mutation DNP AG CA CA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:64635377_64635378AG>CA uc003dmg.3 - 9 1572_1573 c.1540_1541CT>TG c.(1540-1542)ctt>TGt p.L514C ADAMTS9_uc011bfo.2_Missense_Mutation_p.L486C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L343C|ADAMTS9_uc003dmk.1_Missense_Mutation_p.L514C NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 514 Disintegrin. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CACGTTGTAAAGGATGCCTGGC 0.470000 284 181 0 0 0.004672 0 0 UNC79 57578 broad.mit.edu 37 14 94089130 94089130 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94089130G>A uc001ybv.1 + 27 5169 c.5086G>A c.(5086-5088)Gag>Aag p.E1696K UNC79_uc001ybs.1_Missense_Mutation_p.E1674K NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1851 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TATCCAGAGAGAGTACCTCGA 0.463000 46 10 0 0 0.008291 0 0 WDR25 79446 broad.mit.edu 37 14 100996330 100996330 + Silent SNP C T T rs149360659 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:100996330C>T uc010avx.3 + 6 1680 c.1587C>T c.(1585-1587)tcC>tcT p.S529S WDR25_uc001yhn.3_Silent_p.S529S|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Silent_p.S272S NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 529 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) TGCTGCCCTCCGTCCTCGCCA 0.627000 33 6 0 0 0.001984 0 0 C1QTNF5 114902 broad.mit.edu 37 11 119217037 119217037 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:119217037G>A uc010rzg.1 - 1 262 c.102C>T c.(100-102)tgC>tgT p.C34C C1QTNF5_uc001pwj.2_5'UTR Q9BY79 MFRP_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA. 34 embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTGGGGGAGGGCAGGGTGGCC 0.637000 2 5 0 0 0.000602 0 0 IL20 50604 broad.mit.edu 37 1 207039657 207039657 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:207039657G>A uc001her.3 + 1 217 c.173G>A c.(172-174)gGa>gAa p.G58E IL20_uc009xby.3_Missense_Mutation_p.G58E NM_018724 NP_061194 Q9NYY1 IL20_HUMAN Homo sapiens interleukin 20 (IL20), mRNA. 58 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GCCAAAGATGGAAACATTGAC 0.478000 50 20 0 0 0.008871 0 0 GOLGA6L5 374650 broad.mit.edu 37 15 85056034 85056034 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:85056034C>T uc002bkm.2 - 5 c.526G>A Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA. CTTAGATGGCCCTGCTGGGGG 0.512000 12 5 0 0 0.003080 0 0 VSX1 30813 broad.mit.edu 37 20 25056959 25056959 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:25056959G>A uc002wuf.3 - 4 1071 c.1036C>T c.(1036-1038)Caa>Taa p.Q346* VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron NM_014588 NP_055403 Q9NZR4 VSX1_HUMAN Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA. 346 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 GAGCCTCCTTGAGCACCAGCC 0.587000 27 21 0 0 0.001882 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435355 18435355 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:18435355T>C uc001rdt.3 + 1 456 c.340T>C c.(340-342)Tta>Cta p.L114L PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L114L|PIK3C2G_uc010sic.2_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 114 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TCCTTCTGTGTTACCAAAACC 0.413000 45 52 0 0 0.003610 0 0 LMX1A 4009 broad.mit.edu 37 1 165218847 165218847 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:165218847G>A uc001gcz.2 - 3 488 c.294C>T c.(292-294)ttC>ttT p.F98F LMX1A_uc021pdz.1_Silent_p.F98F NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 98 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGATGGCCTCGAAGCAGCCCC 0.542000 14 5 0 0 0.000602 0 0 ANO4 121601 broad.mit.edu 37 12 101520720 101520720 + Silent SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:101520720A>C uc010svm.1 + 26 3312 c.2740A>C c.(2740-2742)Agg>Cgg p.R914R ANO4_uc001thw.2_Silent_p.R879R|ANO4_uc001thx.2_Silent_p.R914R|ANO4_uc001thy.2_Silent_p.R434R NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 914 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAAAGACCTAAGGGATCGAAT 0.438000 HNSCC(74;0.22) 16 13 0 0 0.002450 0 0 ALOX5 240 broad.mit.edu 37 10 45878075 45878075 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:45878075C>T uc001jce.3 + 1 394 c.295C>T c.(295-297)Ccc>Tcc p.P99S ALOX5_uc009xmt.3_Missense_Mutation_p.P99S|ALOX5_uc010qfg.2_Missense_Mutation_p.P99S|ALOX5_uc021ppr.1_Missense_Mutation_p.P99S NM_000698 NP_000689 P09917 LOX5_HUMAN Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA. 99 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CATCGAGTTCCCCTGCTACCG 0.602000 9 4 0 0 0.000248 0 0 PSD4 23550 broad.mit.edu 37 2 113955427 113955427 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:113955427C>T uc002tjc.3 + 13 2744 c.2561C>T c.(2560-2562)aCc>aTc p.T854I PSD4_uc002tjd.3_Missense_Mutation_p.T474I|PSD4_uc002tje.3_Missense_Mutation_p.T824I|PSD4_uc002tjf.3_Missense_Mutation_p.T475I|PSD4_uc002tjg.3_Missense_Mutation_p.T20I|PSD4_uc010yxs.2_Missense_Mutation_p.T84I|PSD4_uc002tjh.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 854 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACGCATTACACCAAGAAGCCG 0.652000 7 3 0 0 0.000248 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86643123 86643123 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:86643123C>T uc003hpk.3 + 2 715 c.266C>T c.(265-267)cCa>cTa p.P89L ARHGAP24_uc003hpi.1_Missense_Mutation_p.P89L|ARHGAP24_uc003hpj.3_Missense_Mutation_p.P89L|MIR4451_uc021xps.1_5'Flank NM_001025616 NP_001036134 Q8N264 RHG24_HUMAN Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA. 89 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GAAGTAGTTCCAGGTAAGATA 0.373000 17 19 0 0 0.001523 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944201 50944201 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:50944201G>A uc002psf.2 + 7 688 c.637G>A c.(637-639)Gag>Aag p.E213K NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 213 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CATCCCCCCGGAGATTTGGGA 0.577000 13 6 0 0 0.001168 0 0 HBP1 26959 broad.mit.edu 37 7 106836326 106836326 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:106836326G>A uc003vdy.3 + 8 1301 c.1115G>A c.(1114-1116)aGt>aAt p.S372N HBP1_uc011klv.2_Missense_Mutation_p.S382N|HBP1_uc003vdz.3_Missense_Mutation_p.S372N|HBP1_uc003vea.3_Missense_Mutation_p.S372N|HBP1_uc003veb.1_Missense_Mutation_p.S372N NM_012257 NP_036389 O60381 HBP1_HUMAN Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA. 372 Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 GTGTTAAGTAGTATGGCTCGC 0.368000 41 32 0 0 0.003610 0 0 MCM2 4171 broad.mit.edu 37 3 127325561 127325561 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:127325561C>T uc003ejp.3 + 5 1059 c.1002C>T c.(1000-1002)ttC>ttT p.F334F MCM2_uc011bkm.2_Silent_p.F204F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F218F NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 334 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding p.F334F(1) ovary(3)|skin(2)|stomach(1) 6 AGTGCAATTTCGTCCTGGGTC 0.592000 31 42 0 0 0.003214 0 0 ZFAT 57623 broad.mit.edu 37 8 135649862 135649863 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:135649862_135649863GG>AA uc003yup.3 - 2 475_476 c.289_290CC>TT c.(289-291)ccg>TTg p.P97L ZFAT_uc003yun.3_Missense_Mutation_p.P85L|ZFAT_uc003yuo.3_Missense_Mutation_p.P85L|ZFAT_uc010meh.3_Missense_Mutation_p.P85L|ZFAT_uc010mej.3_Missense_Mutation_p.P97L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.P85L|ZFAT_uc003yur.3_Missense_Mutation_p.P85L NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTCCTCAGTCGGACTCACGATG 0.569000 29 21 0 0 0.004672 0 0 HMCN1 83872 broad.mit.edu 37 1 186105887 186105887 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:186105887C>T uc001grq.1 + 86 13629 c.13400C>T c.(13399-13401)cCt>cTt p.P4467L MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P36L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 4467 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTGGAGAGCCTCAACCAACC 0.443000 42 10 0 0 0.008291 0 0 SLC6A12 6539 broad.mit.edu 37 12 307150 307150 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:307150G>T uc001qhz.3 - 9 1530 c.866C>A c.(865-867)aCc>aAc p.T289N SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.T289N|SLC6A12_uc001qib.3_Missense_Mutation_p.T289N|SLC6A12_uc009zdh.2_Missense_Mutation_p.T289N NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 289 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.G288D(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GAAGATCTGGGTGCCCGCATC 0.587000 12 14 1.99824e-07 2.75112e-07 0.004990 1 0 AFF3 3899 broad.mit.edu 37 2 100210262 100210263 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:100210262_100210263GG>AA uc002taf.3 - 13 2079_2080 c.1935_1936CC>TT c.(1933-1938)gtcccc>gtTTcc p.P646S AFF3_uc002tag.3_Missense_Mutation_p.P621S|AFF3_uc010fiq.1_Missense_Mutation_p.P621S|AFF3_uc010yvr.1_Missense_Mutation_p.P774S|AFF3_uc002tah.1_Missense_Mutation_p.P646S NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 621 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GGCTCCGGGGGGACCACCACGC 0.743000 22 7 0 0 0.004672 0 0 FAT4 79633 broad.mit.edu 37 4 126239214 126239214 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:126239214C>T uc003ifj.4 + 0 1648 c.1648C>T c.(1648-1650)Ctg>Ttg p.L550L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 550 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAGATTGTTCTGAATATAAG 0.517000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 16 0 0 0.004990 0 0 LRP1B 53353 broad.mit.edu 37 2 141747168 141747168 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:141747168C>T uc002tvj.1 - 16 3675 c.2703G>A c.(2701-2703)aaG>aaA p.K901K LRP1B_uc010fnl.1_Intron|Y_RNA_uc021vqd.1_5'Flank NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 901 LDL-receptor class A 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGCCATCTCTTGGGGATGC 0.413000 TSP Lung(27;0.18) 40 29 0 0 0.008361 0 0 PEX5 5830 broad.mit.edu 37 12 7360659 7360659 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:7360659C>T uc009zfu.2 + 12 1744 c.1164C>T c.(1162-1164)gcC>gcT p.A388A PEX5_uc001qsw.3_Silent_p.A388A|PEX5_uc010sgc.2_Silent_p.A403A|PEX5_uc001qsu.3_Silent_p.A351A|PEX5_uc010sgd.2_Silent_p.A409A|PEX5_uc001qsv.3_Silent_p.A380A NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 388 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 AACTATTAGCCATCAGTGCAT 0.493000 19 13 0 0 0.002450 0 0 TRIM47 91107 broad.mit.edu 37 17 73872477 73872477 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73872477C>T uc002jpw.3 - 2 895 c.868G>A c.(868-870)Gag>Aag p.E290K TRIM47_uc002jpv.3_Missense_Mutation_p.E52K NM_033452 NP_258411 Q96LD4 TRI47_HUMAN Homo sapiens tripartite motif containing 47 (TRIM47), mRNA. 290 cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCCCCTCCTCGATGAAGCCC 0.682000 15 10 0 0 0.000978 0 0 COL6A6 131873 broad.mit.edu 37 3 130287203 130287203 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:130287203G>C uc010htl.3 + 4 2187 c.2156G>C c.(2155-2157)cGg>cCg p.R719P NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 719 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAGGGCGCCCGGCCCAACATC 0.502000 43 35 0 0 0.003271 0 0 GALNT8 26290 broad.mit.edu 37 12 4853837 4853837 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:4853837G>A uc001qne.1 + 3 923 c.831G>A c.(829-831)ttG>ttA p.L277L NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 277 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TCGCCATCTTGGATGCTCACA 0.493000 20 10 0 0 0.000978 0 0 MUC16 94025 broad.mit.edu 37 19 9056722 9056722 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:9056722C>T uc002mkp.3 - 2 30928 c.30724G>A c.(30724-30726)Ggg>Agg p.G10242R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10244 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 GAGGTTATCCCAGTGGACTCC 0.453000 32 25 0 0 0.003954 0 0 PEG3 5178 broad.mit.edu 37 19 57335843 57335843 + Silent SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:57335843G>T uc002qnu.2 - 0 532 c.181C>A c.(181-183)Cgg>Agg p.R61R PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.R61R|PEG3_uc002qnv.2_Silent_p.R61R|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.R61R NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 61 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGGGTCTTCCGAGGCCCAACA 0.507000 20 26 2.4375e-19 3.38061e-19 0.007291 1 0 RND2 8153 broad.mit.edu 37 17 41177998 41177998 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:41177998G>A uc002icn.3 + 1 231 c.124G>A c.(124-126)Gag>Aag p.E42K NM_005440 NP_005431 P52198 RND2_HUMAN Homo sapiens Rho family GTPase 2 (RND2), mRNA. 42 small GTPase mediated signal transduction acrosomal membrane GTP binding|GTPase activity large_intestine(1)|skin(1) 2 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CACCGTGTTTGAGAACTACAC 0.542000 28 26 0 0 0.008361 0 0 NPM2 10361 broad.mit.edu 37 8 21891767 21891767 + Missense_Mutation SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:21891767A>C uc003xac.3 + 6 1142 c.512A>C c.(511-513)aAg>aCg p.K171T NPM2_uc003xad.3_Missense_Mutation_p.K171T|NPM2_uc003xae.3_Missense_Mutation_p.K171T|NPM2_uc003xaf.3_Intron NM_182795 NP_877724 Q86SE8 NPM2_HUMAN Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA. 171 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) GTGCCCCAGAAGCAGGCGAGC 0.562000 36 10 0 0 0.001855 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610002 38610002 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:38610002G>A uc002ohk.3 + 8 2857 c.2348G>A c.(2347-2349)gGa>gAa p.G783E NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 783 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ATCCCCAGTGGAACCACATTC 0.542000 51 54 0 0 0.003610 0 0 SULT1A1 6817 broad.mit.edu 37 16 28617456 28617456 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:28617456C>T uc002dqn.3 - 9 1561 c.969G>A c.(967-969)atG>atA p.M323I NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.M232I|SULT1A1_uc002dqi.3_Missense_Mutation_p.M232I|SULT1A1_uc002dqk.3_Missense_Mutation_p.M232I|SULT1A1_uc002dql.3_Missense_Mutation_p.M232I|SULT1A1_uc002dqm.3_Missense_Mutation_p.M154I|SULT1A1_uc002dqp.3_Missense_Mutation_p.M232I NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 232 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GGTTCTTCTTCATCTCCTTGA 0.567000 83 15 0 0 0.004990 0 0 RBM10 8241 broad.mit.edu 37 X 47045478 47045479 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:47045478_47045479GG>AA uc004dhi.3 + 21 2869_2870 c.2640_2641GG>AA c.(2638-2643)cgggac>cgAAac p.D881N RBM10_uc004dhf.3_Missense_Mutation_p.D816N|RBM10_uc004dhh.3_Missense_Mutation_p.D815N|RBM10_uc010nhq.3_Missense_Mutation_p.D739N|RBM10_uc004dhg.3_Missense_Mutation_p.D738N NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 816 G-patch. RNA splicing|mRNA processing chromatin remodeling complex RNA binding|nucleotide binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 TGAAGTACCGGGACCGTGCAGC 0.559000 0 9 0 0 0.004672 0 0 KDM2B 84678 broad.mit.edu 37 12 121878617 121878617 + Splice_Site SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:121878617A>C uc001uat.3 - 21 3714 c.3610_splice c.e21+1 p.G1204_splice KDM2B_uc010szy.2_Splice_Site_p.G644_splice|KDM2B_uc001uaq.3_Splice_Site_p.G644_splice|KDM2B_uc001uar.3_Splice_Site_p.G795_splice|KDM2B_uc001uas.3_Splice_Site_p.G1135_splice|KDM2B_uc021rfd.1_Splice_Site_p.G1135_splice|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Splice_Site_p.G1204_splice|KDM2B_uc001uao.3_Splice_Site_p.G452_splice|KDM2B_uc010szx.2_Splice_Site_p.G452_splice|KDM2B_uc001uap.3_Splice_Site NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 1204 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTGGCAACTCACCTGGCCTGT 0.607000 14 11 0 0 0.002450 0 0 FAM190A 401145 broad.mit.edu 37 4 91230275 91230275 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:91230275G>A uc003hsv.4 + 1 1180 c.840G>A c.(838-840)atG>atA p.M280I FAM190A_uc003hsu.3_Missense_Mutation_p.M280I|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.M280I NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA. 280 NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 GTGGAAGCATGGCATCCCACT 0.428000 115 78 0 0 0.003610 0 0 SMAD9 4093 broad.mit.edu 37 13 37453718 37453718 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:37453718C>T uc001uvw.3 - 1 452 c.109G>A c.(109-111)Gca>Aca p.A37T SMAD9_uc001uvx.3_Missense_Mutation_p.A37T|SMAD9_uc010tep.2_5'UTR NM_001127217 NP_001120689 O15198 SMAD9_HUMAN Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA. 37 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GAGTCCACTGCCTTCTCTGCC 0.572000 53 13 0 0 0.004007 0 0 C4orf50 389197 broad.mit.edu 37 4 5961053 5961053 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:5961053C>T uc003git.2 - 6 c.2178G>A Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 GGTTCTGCTTCAAATATTTAT 0.428000 58 18 0 0 0.006122 0 0 OPLAH 26873 broad.mit.edu 37 8 145111541 145111541 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:145111541G>A uc003zar.3 - 12 1906 c.1824C>T c.(1822-1824)ttC>ttT p.F608F OPLAH_uc003zas.1_5'Flank NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 608 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGGCTGCCCCGAAGTCCCCCG 0.677000 5 15 0 0 0.004990 0 0 IDO1 3620 broad.mit.edu 37 8 39785653 39785653 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:39785653C>T uc003xnm.3 + 9 1275 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 387 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TAATGAATTTCCTGAAGACTG 0.418000 12 13 0 0 0.002450 0 0 SVEP1 79987 broad.mit.edu 37 9 113228143 113228143 + Splice_Site SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:113228143A>G uc010mtz.3 - 18 3659 c.3322_splice c.e18+1 p.V1108_splice SVEP1_uc010mua.1_Splice_Site_p.V1108_splice NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1108 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGCTTTGATAACCTCCACATG 0.418000 17 9 0 0 0.004482 0 0 KIAA1429 25962 broad.mit.edu 37 8 95530059 95530059 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:95530059G>A uc003ygo.2 - 9 2696 c.2625C>T c.(2623-2625)ctC>ctT p.L875L KIAA1429_uc003ygp.3_Silent_p.L875L|KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 875 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AAAGCTTCAAGAGAGATGCTG 0.343000 11 11 0 0 0.000978 0 0 BTAF1 9044 broad.mit.edu 37 10 93773519 93773519 + Silent SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:93773519A>C uc001khr.3 + 30 4505 c.4407A>C c.(4405-4407)atA>atC p.I1469I NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 1469 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GTAAACCTATATTAGCAAGTA 0.388000 27 20 0 0 0.007413 0 0 CUBN 8029 broad.mit.edu 37 10 16916440 16916440 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:16916440C>T uc001ioo.3 - 57 9221 c.9169G>A c.(9169-9171)Gac>Aac p.D3057N CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.D413N NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 3057 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTGGGTAGTCTGCGTATGAA 0.423000 50 17 0 0 0.004990 0 0 AP3D1 8943 broad.mit.edu 37 19 2114268 2114268 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:2114268C>T uc002lva.3 - 21 2680 c.2457G>A c.(2455-2457)caG>caA p.Q819Q AP3D1_uc010dsv.3_5'Flank|AP3D1_uc002luy.3_Silent_p.Q728Q|AP3D1_uc002luz.3_Silent_p.Q819Q NM_003938 NP_003929 O14617 AP3D1_HUMAN Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA. 819 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport Golgi membrane|endosome membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTGTGTTTCTGAATAGGCA 0.512000 14 6 0 0 0.001984 0 0 WSCD2 9671 broad.mit.edu 37 12 108589878 108589878 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:108589878G>A uc001tms.3 + 1 1013 c.269G>A c.(268-270)gGa>gAa p.G90E WSCD2_uc001tmt.3_Missense_Mutation_p.G90E NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 90 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CGCAGGTACGGACCCTGGTTC 0.612000 36 18 0 0 0.007413 0 0 ARMC4 55130 broad.mit.edu 37 10 28224136 28224136 + Silent SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:28224136T>G uc009xky.3 - 15 2396 c.2298A>C c.(2296-2298)acA>acC p.T766T ARMC4_uc010qds.2_Silent_p.T291T|ARMC4_uc010qdt.2_Silent_p.T458T|ARMC4_uc001itz.3_Silent_p.T766T NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 766 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CAGGCTGATCTGTTAGAAGTC 0.428000 65 16 0 0 0.004007 0 0 COL4A1 1282 broad.mit.edu 37 13 110823043 110823043 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:110823043C>T uc001vqw.4 - 41 3715 c.3593G>A c.(3592-3594)gGg>gAg p.G1198E NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1198 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCTGGGCTCCCGGCTAATCC 0.577000 27 19 0 0 0.003954 0 0 CCDC108 255101 broad.mit.edu 37 2 219888853 219888853 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:219888853C>T uc002vjl.1 - 14 2563 c.2479G>A c.(2479-2481)Ggc>Agc p.G827S NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 827 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCACAAGGCCCGAAGTGGGC 0.607000 6 18 0 0 0.007413 0 0 MTBP 27085 broad.mit.edu 37 8 121519043 121519043 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:121519043T>C uc003ypc.1 + 15 1870 c.1825T>C c.(1825-1827)Tac>Cac p.Y609H NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA. 609 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) ATTGCTGAAGTACTTTACCTC 0.388000 21 19 0 0 0.001882 0 0 TRIM46 80128 broad.mit.edu 37 1 155152210 155152210 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:155152210C>T uc001fhs.1 + 7 1471 c.1388C>T c.(1387-1389)aCc>aTc p.T463I TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.T463I|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.T337I|TRIM46_uc001fhu.1_Missense_Mutation_p.T440I|TRIM46_uc009wpg.1_Missense_Mutation_p.T450I|TRIM46_uc001fhw.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 463 Fibronectin type-III. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGCACTATACCGTTGAGTTC 0.662000 16 9 0 0 0.004482 0 0 FCRL5 83416 broad.mit.edu 37 1 157494241 157494241 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:157494241G>A uc009wsm.3 - 9 2225 c.2067C>T c.(2065-2067)atC>atT p.I689I FCRL5_uc001fqu.3_Silent_p.I689I|FCRL5_uc010phv.1_Silent_p.I689I|FCRL5_uc010phw.1_Silent_p.I604I NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 689 Ig-like C2-type 7. 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) ACCAGTACAGGATTGGGGAGG 0.577000 25 23 0 0 0.002780 0 0 AMBN 258 broad.mit.edu 37 4 71472178 71472178 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:71472178G>A uc003hfl.3 + 12 1176 c.1075G>A c.(1075-1077)Gat>Aat p.D359N NM_016519 NP_057603 Q9NP70 AMBN_HUMAN Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA. 359 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TCTCCCTAAGGATGACATTCC 0.587000 14 14 0 0 0.001855 0 0 OR56A3 390083 broad.mit.edu 37 11 5969179 5969179 + Silent SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:5969179T>G uc010qzt.2 + 0 603 c.603T>G c.(601-603)ctT>ctG p.L201L NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAATCACCTTTACCAATTTG 0.473000 43 67 0 0 0.003610 0 0 AGBL2 79841 broad.mit.edu 37 11 47713758 47713758 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:47713758C>T uc001ngg.3 - 8 1047 c.745G>A c.(745-747)Gga>Aga p.G249R AGBL2_uc001ngf.3_5'Flank|AGBL2_uc010rhq.1_Missense_Mutation_p.G211R|AGBL2_uc001ngh.1_Missense_Mutation_p.G193R NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA. 249 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TTGACAATTCCTCGTTTGCCT 0.423000 2 36 0 0 0.004878 0 0 DCAF7 10238 broad.mit.edu 37 17 61657259 61657259 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61657259C>T uc002jbc.3 + 3 700 c.483C>T c.(481-483)ctC>ctT p.L161L DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron NM_005828 NP_005819 P61962 DCAF7_HUMAN Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA. 161 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 GAGTGAATCTCGTGTCTGGCC 0.532000 26 13 0 0 0.003163 0 0 IMPDH2 3615 broad.mit.edu 37 3 49065158 49065158 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:49065158G>A uc003cvt.3 - 4 608 c.516C>T c.(514-516)gaC>gaT p.D172D NM_000884 NP_000875 P12268 IMDH2_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA. 172 CBS 1. GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCAAGAAACAGTCATGTTCCT 0.522000 36 37 0 0 0.002522 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269849 150269849 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:150269849G>A uc003whl.3 + 2 773 c.691G>A c.(691-693)Gag>Aag p.E231K GIMAP4_uc011kuu.2_Missense_Mutation_p.E92K|GIMAP4_uc011kuv.2_Missense_Mutation_p.E245K NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 231 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGGGCGGAGGAGGAGATCCA 0.537000 18 14 0 0 0.002450 0 0 TIE1 7075 broad.mit.edu 37 1 43783010 43783010 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:43783010C>T uc001ciu.3 + 14 2727 c.2550C>T c.(2548-2550)ttC>ttT p.F850F TIE1_uc010oke.2_Silent_p.F805F|TIE1_uc009vwq.3_Silent_p.F806F|TIE1_uc010okg.2_Silent_p.F495F NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 850 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGGGAACTTCGGCCAGGTCA 0.612000 15 35 0 0 0.007835 0 0 KRT83 3889 broad.mit.edu 37 12 52714950 52714950 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:52714950C>T uc001saf.2 - 0 233 c.170G>A c.(169-171)gGg>gAg p.G57E NM_002282 NP_002273 P78385 KRT83_HUMAN Homo sapiens keratin 83 (KRT83), mRNA. 57 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCGGAAGCCCCCGCACACGCT 0.741000 9 8 0 0 0.003080 0 0 TTF2 8458 broad.mit.edu 37 1 117633165 117633165 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:117633165C>T uc001egy.3 + 14 2528 c.2508C>T c.(2506-2508)ccC>ccT p.P836P NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 836 RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGATACTGCCCCAGCGTAAAT 0.358000 12 20 0 0 0.001882 0 0 LRRC8E 80131 broad.mit.edu 37 19 7963729 7963729 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:7963729G>A uc002mir.3 + 2 423 c.322G>A c.(322-324)Gag>Aag p.E108K NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA. 108 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 GCTGTGTTATGAGACGGCCCT 0.507000 32 45 0 0 0.003610 0 0 CASC1 55259 broad.mit.edu 37 12 25267779 25267779 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:25267779G>A uc001rgk.3 - 12 1504 c.1422C>T c.(1420-1422)atC>atT p.I474I CASC1_uc001rgj.3_Silent_p.I428I|CASC1_uc001rgm.4_Silent_p.I532I|CASC1_uc001rgl.3_Silent_p.I468I|CASC1_uc010sje.2_Silent_p.I409I|CASC1_uc010sjf.2_Silent_p.I356I|CASC1_uc010sjg.1_3'UTR NM_018272 NP_060742 Q6TDU7 CASC1_HUMAN Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA. 468 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATACATTGCTGATGCCATCAG 0.353000 25 22 0 0 0.003330 0 0 COL4A5 1287 broad.mit.edu 37 X 107829938 107829938 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:107829938C>T uc022ccg.1 + 18 1328 c.1126C>T c.(1126-1128)Cct>Tct p.P376S COL4A5_uc004enz.1_Missense_Mutation_p.P376S|COL4A5_uc004eob.1_5'UTR NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 376 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 GCGAGGATTTCCTGGAATACA 0.438000 Alport syndrome with Diffuse Leiomyomatosis 0 62 0 0 0.003610 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884876 24884876 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:24884876C>T uc001wpf.4 + 8 4239 c.3921C>T c.(3919-3921)ttC>ttT p.F1307F NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1307 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGTCCACGTTCGTCTGCATCC 0.622000 108 45 0 0 0.003610 0 0 TNK1 8711 broad.mit.edu 37 17 7290399 7290399 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7290399G>A uc002ggi.4 + 8 1570 c.1338G>A c.(1336-1338)ggG>ggA p.G446G TNK1_uc002ggj.4_Silent_p.G441G|TNK1_uc010cmf.3_Non-coding_Transcript NM_001251902 NP_001238831 Q13470 TNK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA. 446 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) CAGATGCGGGGGGCTTGCCAG 0.632000 12 7 0 0 0.001984 0 0 UBXN11 91544 broad.mit.edu 37 1 26620703 26620703 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:26620703C>T uc001blw.3 - 8 825 c.552G>A c.(550-552)tgG>tgA p.W184* UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Nonsense_Mutation_p.W151*|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Nonsense_Mutation_p.W151*|UBXN11_uc010ofb.1_Nonsense_Mutation_p.W109*|UBXN11_uc010ofc.1_Nonsense_Mutation_p.W26* NM_183008 NP_892120 Q5T124 UBX11_HUMAN Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA. 184 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 TACCTGGCTTCCAGAACTTCT 0.592000 33 18 0 0 0.008871 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061501 13061501 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:13061501C>T uc001rba.3 + 1 968 c.318C>T c.(316-318)tcC>tcT p.S106S NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA. 106 Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TCCTCTTTTCCATCTGCTTCT 0.592000 88 31 0 0 0.003755 0 0 KPRP 448834 broad.mit.edu 37 1 152733095 152733095 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:152733095C>T uc001fal.1 + 1 1089 c.1031C>T c.(1030-1032)cCt>cTt p.P344L KPRP_uc021ozf.1_Missense_Mutation_p.P344L NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 344 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAGGTGTCCTGTTGAGATT 0.657000 13 18 0 0 0.007413 0 0 OR52R1 119695 broad.mit.edu 37 11 4825340 4825340 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:4825340G>A uc021qcs.1 - 0 271 c.271C>T c.(271-273)Cat>Tat p.H91Y NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCATGAGCATGAAACCAGAAT 0.527000 33 18 0 0 0.006122 0 0 SLC13A5 284111 broad.mit.edu 37 17 6589527 6589527 + Nonstop_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:6589527T>G uc002gdj.3 - 11 1794 c.1706A>C c.(1705-1707)tAg>tCg p.*569S SLC13A5_uc010clq.3_Nonstop_Mutation_p.*526S|SLC13A5_uc002gdk.3_Nonstop_Mutation_p.*552S|SLC13A5_uc010vtf.2_Nonstop_Mutation_p.*523S NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 0 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 TGGCTCTTCCTAAGTCTCAAT 0.498000 62 61 0 0 0.003610 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668462 176668462 + Silent SNP G A A rs147497362 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:176668462G>A uc001gkz.3 + 7 4137 c.2973G>A c.(2971-2973)aaG>aaA p.K991K PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 991 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGAAAACAAGGAGTCAGTGC 0.547000 68 70 0 0 0.003610 0 0 KIAA1244 57221 broad.mit.edu 37 6 138634995 138634995 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:138634995T>C uc003qhu.3 + 25 4435 c.4264T>C c.(4264-4266)Ttg>Ctg p.L1422L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1422 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACTTGCCGGCTTGCCTCGAAG 0.403000 33 6 0 0 0.001984 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602940 37602940 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:37602940G>A uc002yvg.3 + 13 1937 c.1858G>A c.(1858-1860)Ggc>Agc p.G620S DOPEY2_uc011aeb.2_Missense_Mutation_p.G620S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 620 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTGGAAGAAGGGCGGGAGCAT 0.537000 51 30 0 0 0.001786 0 0 PROL1 58503 broad.mit.edu 37 4 71265005 71265005 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:71265005G>A uc003hfi.3 + 1 177 c.3G>A c.(1-3)atG>atA p.M1I NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 1 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TTTAAAGAATGAAATTAACTT 0.299000 39 15 0 0 0.007413 0 0 KIAA1199 57214 broad.mit.edu 37 15 81230231 81230231 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:81230231G>A uc002bfw.1 + 23 3578 c.3318G>A c.(3316-3318)aaG>aaA p.K1106K KIAA1199_uc010unn.1_Silent_p.K1106K NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 1106 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AAACGTCCAAGACGGGCGTCT 0.602000 23 17 0 0 0.004990 0 0 MUC6 4588 broad.mit.edu 37 11 1020106 1020107 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:1020106_1020107GG>AA uc001lsw.2 - 28 3842_3843 c.3791_3792CC>TT c.(3790-3792)ccc>cTT p.P1264L NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 1264 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGAGGCTGTGGGCTTGGAGGA 0.653000 6 5 0 0 0.004672 0 0 NFATC3 4775 broad.mit.edu 37 16 68156670 68156670 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:68156670C>T uc002evo.2 + 1 1200 c.884C>T c.(883-885)cCt>cTt p.P295L NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.P295L|NFATC3_uc002evm.2_Missense_Mutation_p.P295L|NFATC3_uc002evn.2_Missense_Mutation_p.P295L|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA. 295 3 X SP repeats. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TCACCTGTTCCTTCACCTGGT 0.557000 37 11 0 0 0.000978 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779029 156779029 + Missense_Mutation SNP C T T rs144238677 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:156779029C>T uc009wsh.2 - 6 1138 c.998G>A c.(997-999)cGg>cAg p.R333Q SH2D2A_uc001fqc.1_Missense_Mutation_p.R295Q|SH2D2A_uc001fqd.2_Missense_Mutation_p.R323Q|SH2D2A_uc001fqe.2_Missense_Mutation_p.R305Q|SH2D2A_uc010phs.1_Missense_Mutation_p.R323Q NM_001161441 NP_001154913 Q9NP31 SH22A_HUMAN Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA. 323 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAGCTCTTCCGTAGGACAGG 0.612000 92 28 0 0 0.008361 0 0 FCGBP 8857 broad.mit.edu 37 19 40419943 40419943 + Silent SNP C T T rs148754431 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:40419943C>T uc002omp.4 - 5 3059 c.3051G>A c.(3049-3051)cgG>cgA p.R1017R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1017 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GACCCCCACCCCGCAGAGCCA 0.617000 5 22 0 0 0.002780 0 0 PSMD5 5711 broad.mit.edu 37 9 123594208 123594208 + Nonsense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:123594208C>A uc004bko.3 - 2 353 c.334G>T c.(334-336)Gaa>Taa p.E112* PSMD5_uc011lye.2_Nonsense_Mutation_p.E112* NM_005047 NP_005038 Q16401 PSMD5_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA. 112 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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 TCAGAATTTTCAACAATTCTT 0.353000 66 64 1.1362e-29 1.58018e-29 0.003610 1 0 HRH1 3269 broad.mit.edu 37 3 11301038 11301038 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:11301038C>T uc010hdr.3 + 1 657 c.315C>T c.(313-315)tcC>tcT p.S105S HRH1_uc010hds.3_Silent_p.S105S|HRH1_uc010hdt.3_Silent_p.S105S|HRH1_uc003bwb.4_Silent_p.S105S|HRH1_uc021wtb.1_Silent_p.S105S NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 105 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TTTGGCTTTCCATGGACTATG 0.542000 118 37 0 0 0.005524 0 0 ACOX2 8309 broad.mit.edu 37 3 58519210 58519210 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:58519210C>T uc003dkl.3 - 4 720 c.545G>A c.(544-546)aGc>aAc p.S182N NM_003500 NP_003491 Q99424 ACOX2_HUMAN Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA. 182 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CAGCGTGGGGCTGTGTATCAC 0.532000 OREG0015638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 15 0 0 0.003163 0 0 KCNV2 169522 broad.mit.edu 37 9 2718192 2718192 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:2718192C>T uc003zho.2 + 0 667 c.453C>T c.(451-453)ttC>ttT p.F151F NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA. 151 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) AATACTTCTTCGACCGCGACC 0.652000 1 8 0 0 0.006214 0 0 REPIN1 29803 broad.mit.edu 37 7 150069034 150069035 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:150069034_150069035CC>TT uc010lpr.1 + 2 1068_1069 c.875_876CC>TT c.(874-876)ccc>cTT p.P292L REPIN1_uc003whd.2_Missense_Mutation_p.P224L|REPIN1_uc010lpq.1_Missense_Mutation_p.P235L|REPIN1_uc003whc.2_Missense_Mutation_p.P235L|REPIN1_uc003whe.2_Missense_Mutation_p.P235L NM_001099695 NP_055189 Q9BWE0 REPI1_HUMAN Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA. 235 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding p.P292H(1)|p.P235H(1) cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GTCGACCGCCCCTTCCAGTGTG 0.748000 15 8 0 0 0.004672 0 0 C3orf17 25871 broad.mit.edu 37 3 112732175 112732175 + Silent SNP A C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:112732175A>C uc003dzr.3 - 3 478 c.417T>G c.(415-417)gtT>gtG p.V139V C3orf17_uc011bia.2_Missense_Mutation_p.F17V|C3orf17_uc003dzu.3_Intron|C3orf17_uc011bib.2_Silent_p.V28V|C3orf17_uc011bic.2_Intron|C3orf17_uc011bid.2_Intron|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Silent_p.V42V|C3orf17_uc003dzs.3_Silent_p.V3V|C3orf17_uc010hqg.3_5'UTR NM_015412 NP_056227 Q6NW34 CC017_HUMAN Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA. 139 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 AGGCTCCCAAAACCTTCATCA 0.398000 43 29 0 0 0.001786 0 0 OR4M1 441670 broad.mit.edu 37 14 20248889 20248889 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20248889G>A uc010tku.2 + 0 408 c.408G>A c.(406-408)atG>atA p.M136I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTACCATCATGAATCGACGTC 0.502000 175 48 0 0 0.003610 0 0 WNT9B 7484 broad.mit.edu 37 17 44950042 44950042 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:44950042G>A uc002ikw.1 + 1 274 c.237G>A c.(235-237)agG>agA p.R79R WNT9B_uc002ikx.1_Silent_p.R79R NM_003396 NP_003387 O14905 WNT9B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA. 79 Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGACCCTGAGGGATGCTGCGC 0.662000 14 17 0 0 0.004990 0 0 CEP192 55125 broad.mit.edu 37 18 13059241 13059241 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:13059241C>T uc010xac.2 + 20 4498 c.4418C>T c.(4417-4419)aCc>aTc p.T1473I CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.T998I|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.T1214I NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 1068 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATGCTGAGACCATCGTACAG 0.463000 19 37 0 0 0.005524 0 0 CD177 57126 broad.mit.edu 37 19 43859878 43859878 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:43859878G>A uc002owi.3 + 3 487 c.445G>A c.(445-447)Gag>Aag p.E149K CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN Homo sapiens CD177 molecule (CD177), mRNA. 149 UPAR/Ly6 1. blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GACAACAGAAGAGATCTGCCC 0.577000 33 10 0 0 0.008291 0 0 GUCY2C 2984 broad.mit.edu 37 12 14796605 14796605 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:14796605G>A uc001rcd.3 - 16 1970 c.1833C>T c.(1831-1833)gtC>gtT p.V611V NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 611 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 GACGACCATGGACTTCTGTCT 0.388000 46 47 0 0 0.003610 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2987337 2987337 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:2987337C>T uc002csd.3 + 6 2092 c.1729C>T c.(1729-1731)Ctg>Ttg p.L577L FLYWCH1_uc002csb.3_Silent_p.L576L|FLYWCH1_uc002csc.3_Silent_p.L576L|FLYWCH1_uc010bsv.3_Silent_p.L301L|FLYWCH1_uc002cse.3_Silent_p.L32L NM_032296 NP_115672 Q4VC44 FWCH1_HUMAN Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA. 577 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 CCTGGAGGCCCTGCGGCAGCG 0.736000 6 5 0 0 0.001168 0 0 ALDH3B1 221 broad.mit.edu 37 11 67789038 67789038 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:67789038C>A uc010rpy.2 + 7 760 c.644C>A c.(643-645)cCt>cAt p.P215H ALDH3B1_uc001omz.3_Missense_Mutation_p.P215H|ALDH3B1_uc001ona.3_Missense_Mutation_p.P179H|ALDH3B1_uc001onb.3_Non-coding_Transcript NM_001161473 NP_001154945 P43353 AL3B1_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA. 216 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) GGCAAGAACCCTTGCTACGTG 0.642000 OREG0021141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 61 7.73544e-29 1.07532e-28 0.003610 1 0 GRM7 2917 broad.mit.edu 37 3 7620747 7620747 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:7620747C>T uc003bqm.2 + 7 2428 c.2154C>T c.(2152-2154)ttC>ttT p.F718F GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.F718F|GRM7_uc003bql.2_Silent_p.F718F|GRM7_uc003bqn.1_Silent_p.F301F|GRM7_uc010hch.1_Silent_p.F229F NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 718 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TAGGGGTGTTCATTTGGTTTG 0.443000 18 19 0 0 0.001523 0 0 C3orf67 200844 broad.mit.edu 37 3 58853583 58853583 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:58853583C>T uc003dkt.1 - 9 1129 c.720G>A c.(718-720)cgG>cgA p.R240R C3orf67_uc003dks.1_Silent_p.R55R|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.R55R|C3orf67_uc003dkw.3_Silent_p.R135R NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA. 240 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TACTTTTTAACCGTAATCTTC 0.388000 76 19 0 0 0.001882 0 0 OTX2 5015 broad.mit.edu 37 14 57268592 57268592 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:57268592C>T uc001xcq.3 - 4 1029 c.755G>A c.(754-756)gGa>gAa p.G252E OTX2_uc001xcp.3_Missense_Mutation_p.G244E|OTX2_uc021rtm.1_Missense_Mutation_p.G74E|OTX2_uc010aou.3_Missense_Mutation_p.G244E NM_021728 NP_068374 P32243 OTX2_HUMAN Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. 244 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) GCTTGAAGCTCCATATCCCTG 0.502000 27 33 0 0 0.006230 0 0 RAC2 5880 broad.mit.edu 37 22 37622712 37622712 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:37622712C>T uc003arc.3 - 6 698 c.581_splice c.e6+1 NM_002872 NP_002863 P15153 RAC2_HUMAN Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA. axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 GACTCTTACCCCTAGAGGAGG 0.632000 5 7 0 0 0.003080 0 0 HHAT 55733 broad.mit.edu 37 1 210761285 210761285 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:210761285G>A uc010psr.2 + 8 1195 c.1090G>A c.(1090-1092)Ggg>Agg p.G364R HHAT_uc009xcx.3_Missense_Mutation_p.G363R|HHAT_uc010psq.2_Missense_Mutation_p.G226R|HHAT_uc009xcy.3_Missense_Mutation_p.G298R|HHAT_uc010pss.2_Missense_Mutation_p.G318R|HHAT_uc010pst.2_Missense_Mutation_p.G300R|HHAT_uc001hhz.4_Missense_Mutation_p.G363R|HHAT_uc021pip.1_Missense_Mutation_p.G363R|HHAT_uc010psu.2_Missense_Mutation_p.G298R|HHAT_uc001hia.4_Missense_Mutation_p.G53R NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 363 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGGCCTGCTGGGGACACTGTT 0.557000 28 19 0 0 0.001882 0 0 XAB2 56949 broad.mit.edu 37 19 7686102 7686102 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:7686102G>A uc002mgx.3 - 12 1725 c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN Homo sapiens XPA binding protein 2 (XAB2), mRNA. 567 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CCCCCATAGCGGGCAATGAAT 0.612000 Direct reversal of damage;Nucleotide excision repair (NER) 18 15 0 0 0.003163 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18552692 18552692 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:18552692G>A uc001rdt.3 + 14 2219 c.2103G>A c.(2101-2103)tgG>tgA p.W701* PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.W742*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.W520* NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 701 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.W701C(2) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CCCCTGGATGGGATGAAAGGA 0.408000 32 19 0 0 0.006122 0 0 JAG1 182 broad.mit.edu 37 20 10630941 10630941 + Silent SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:10630941A>G uc002wnw.2 - 8 1704 c.1188T>C c.(1186-1188)ttT>ttC p.F396F JAG1_uc010gcd.1_5'UTR NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 396 EGF-like 5; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ACACACACTTAAATCCGTTAA 0.473000 Alagille Syndrome 15 12 0 0 0.002450 0 0 abParts 0 broad.mit.edu 37 14 107113998 107113998 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:107113998G>A uc021ser.1 - 96 c.4231C>T Parts of antibodies, mostly variable regions. CCCCCAGGCTGGACCAAGCCT 0.577000 115 7 0 0 0.004482 0 0 GFRA1 2674 broad.mit.edu 37 10 117856168 117856168 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:117856168A>T uc001lcj.3 - 6 1576 c.878T>A c.(877-879)aTt>aAt p.I293N GFRA1_uc001lci.3_Missense_Mutation_p.I288N|GFRA1_uc009xyr.3_Missense_Mutation_p.I288N NM_005264 NP_005255 P56159 GFRA1_HUMAN Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA. 293 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GATCTTACCAATAAGCCCCGA 0.493000 22 6 0 0 0.001984 0 0 PLD5 200150 broad.mit.edu 37 1 242287770 242287770 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:242287770C>T uc001hzn.2 - 7 1160 c.933_splice c.e7+1 p.S311_splice PLD5_uc021pll.1_Splice_Site_p.S219_splice|PLD5_uc001hzl.4_Splice_Site_p.S249_splice|PLD5_uc001hzm.4_Splice_Site_p.S103_splice|PLD5_uc001hzo.2_Splice_Site_p.S219_splice NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 311 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AACAACTCACCGATACAAATG 0.393000 33 5 0 0 0.000602 0 0 CHRM4 1132 broad.mit.edu 37 11 46407155 46407155 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:46407155G>A uc001nct.1 - 0 953 c.953C>T c.(952-954)gCc>gTc p.A318V NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 318 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GGGCGTGGTGGCCTCTGTGGT 0.637000 0 31 0 0 0.007291 0 0 FAM104A 84923 broad.mit.edu 37 17 71223333 71223334 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:71223333_71223334GG>AA uc002jjj.4 - 1 379_380 c.291_292CC>TT c.(289-294)aaccct>aaTTct p.P98S FAM104A_uc002jji.4_Missense_Mutation_p.P98S NM_001098832 NP_001092302 Q969W3 F104A_HUMAN Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA. 98 Ser-rich. endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TGAAAGACAGGGTTTCTGCTAC 0.411000 59 40 0 0 0.004672 0 0 ZNF182 7569 broad.mit.edu 37 X 47835805 47835805 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:47835805G>A uc004dir.3 - 6 2027 c.1681C>T c.(1681-1683)Cag>Tag p.Q561* ZNF182_uc004dis.3_Nonsense_Mutation_p.Q542*|ZNF182_uc004dit.3_Nonsense_Mutation_p.Q561* NM_006962 NP_008893 P17025 ZN182_HUMAN Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA. 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TGCGTTCTCTGATGTATTATG 0.423000 0 33 0 0 0.002836 0 0 SLC14A2 8170 broad.mit.edu 37 18 43248391 43248391 + Missense_Mutation SNP G A A rs148964498 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:43248391G>A uc002lbe.3 + 14 2801 c.1985G>A c.(1984-1986)gGt>gAt p.G662D SLC14A2_uc010dnj.3_Missense_Mutation_p.G662D NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 662 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCAGACAAAGGTGACTACTAC 0.547000 23 13 0 0 0.001855 0 0 ZPLD1 131368 broad.mit.edu 37 3 102175049 102175049 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:102175049C>T uc003dvt.1 + 3 488 c.388C>T c.(388-390)Cct>Tct p.P130S ZPLD1_uc003dvs.1_Missense_Mutation_p.P114S|ZPLD1_uc011bhg.1_Missense_Mutation_p.P114S NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 114 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATCCACAATTCCTGGAGTCAG 0.348000 48 9 0 0 0.004482 0 0 MICAL3 57553 broad.mit.edu 37 22 18300783 18300783 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:18300783G>A uc002zng.4 - 25 4997 c.4644C>T c.(4642-4644)tcC>tcT p.S1548S MICAL3_uc011agl.2_Silent_p.S1464S|MICAL3_uc010gre.2_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1548 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GCGGCCAGCAGGACGGGGGCG 0.637000 11 6 0 0 0.001984 0 0 BZW1 9689 broad.mit.edu 37 2 201681928 201681928 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:201681928C>T uc010zhg.2 + 5 673 c.598C>T c.(598-600)Ctt>Ttt p.L200F BZW1_uc002uwc.3_Missense_Mutation_p.L168F|BZW1_uc021vus.1_Missense_Mutation_p.L172F NM_001207068 NP_001193997 Q7L1Q6 BZW1_HUMAN Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA. 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 TGCATCCATTCTTAATAGCCT 0.413000 46 12 0 0 0.001855 0 0 KRT33A 3883 broad.mit.edu 37 17 39506882 39506882 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:39506882C>A uc002hwk.1 - 0 175 c.138G>T c.(136-138)tgG>tgT p.W46C NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 46 Head. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CCTCACAGAACCAGTTGCAGT 0.652000 45 27 9.80776e-20 1.36088e-19 0.006320 1 0 OR4K13 390433 broad.mit.edu 37 14 20502702 20502702 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20502702G>A uc010tkz.2 - 0 216 c.216C>T c.(214-216)atC>atT p.I72I NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M71I(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAGAAGCCAGGATCATATCAA 0.443000 45 17 0 0 0.006122 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50185643 50185643 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:50185643G>A uc009zlk.2 - 12 4186 c.3984C>T c.(3982-3984)tcC>tcT p.S1328S NCKAP5L_uc001rvc.3_Silent_p.S532S|NCKAP5L_uc001rvb.2_3'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 1324 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 TCCCACAAGAGGACAGCGAGT 0.687000 5 4 0 0 0.000248 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:13029765G>A uc002wod.1 + 1 579 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_uc002woc.3_Missense_Mutation_p.R97K NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 97 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTGTGGAAAGAAAAGAACAA 0.428000 28 11 0 0 0.000978 0 0 ATP2A3 489 broad.mit.edu 37 17 3850765 3850765 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:3850765C>T uc002fwy.2 - 7 1188 c.1015G>A c.(1015-1017)Gtg>Atg p.V339M ATP2A3_uc002fwz.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxa.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxb.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxc.2_Missense_Mutation_p.V339M|ATP2A3_uc002fxd.2_Missense_Mutation_p.V339M|ATP2A3_uc002fwx.2_Missense_Mutation_p.V339M NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 339 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding p.V339V(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) AGGGTCTCCACGGACGGCAGG 0.657000 25 24 0 0 0.003954 0 0 COL7A1 1294 broad.mit.edu 37 3 48607064 48607064 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:48607064G>A uc003ctz.2 - 100 7576 c.7575C>T c.(7573-7575)atC>atT p.I2525I NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2525 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGGCCCCAGGATCACAGCTG 0.692000 8 4 0 0 0.001168 0 0 TRPC4 7223 broad.mit.edu 37 13 38211564 38211564 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:38211564G>A uc010abx.3 - 10 2660 c.2425C>T c.(2425-2427)Cat>Tat p.H809Y TRPC4_uc010abv.3_Missense_Mutation_p.H384Y|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.H804Y|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.H631Y|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 804 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GATCTCGGATGAATCAGGGTG 0.448000 39 39 0 0 0.006230 0 0 ANKS1A 23294 broad.mit.edu 37 6 34949512 34949512 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:34949512C>T uc003ojx.4 + 3 623 c.481C>T c.(481-483)Cac>Tac p.H161Y ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 161 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCAGTATGGCCACACAGAGGT 0.547000 15 31 0 0 0.001786 0 0 SPTBN5 51332 broad.mit.edu 37 15 42178457 42178457 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:42178457C>T uc001zos.3 - 6 1224 c.891G>A c.(889-891)cgG>cgA p.R297R NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 332 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTGGAAAATCCCGCGCCTCCA 0.627000 10 13 0 0 0.001855 0 0 POLR3B 55703 broad.mit.edu 37 12 106903233 106903233 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:106903233C>T uc001tlp.3 + 27 3530 c.3308C>T c.(3307-3309)tCc>tTc p.S1103F LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.S1045F NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 1103 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 CACGTGTCTTCCCTCCGTATT 0.493000 45 11 0 0 0.000978 0 0 BEST3 144453 broad.mit.edu 37 12 70087463 70087463 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:70087463C>T uc001svg.3 - 3 699 c.472G>A c.(472-474)Gtt>Att p.V158I BEST3_uc001svd.2_Missense_Mutation_p.V158I|BEST3_uc010stm.2_Missense_Mutation_p.V52I|BEST3_uc001svi.1_Non-coding_Transcript NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 158 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CCTGCTTCAACCACGTGGTCC 0.463000 17 9 0 0 0.004482 0 0 OR2F1 26211 broad.mit.edu 37 7 143657927 143657927 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:143657927G>A uc003wds.1 + 0 908 c.864G>A c.(862-864)atG>atA p.M288I NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TGAACCCCATGATTTACAGCC 0.443000 38 23 0 0 0.003954 0 0 TRPC4 7223 broad.mit.edu 37 13 38320325 38320325 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:38320325G>A uc010abx.3 - 2 881 c.646C>T c.(646-648)Cct>Tct p.P216S TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.P216S|TRPC4_uc001uws.3_Missense_Mutation_p.P216S|TRPC4_uc010tey.2_Missense_Mutation_p.P216S|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.P216S NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 216 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTGAGAAAAGGATCTTCGCTT 0.498000 49 14 0 0 0.001855 0 0 PDE4B 5142 broad.mit.edu 37 1 66384348 66384348 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:66384348C>T uc001dcn.3 + 2 302 c.111C>T c.(109-111)atC>atT p.I37I PDE4B_uc009war.3_Intron|PDE4B_uc001dco.3_Silent_p.I37I NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 37 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.I37I(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CACTTGGGATCGACCTCTGGA 0.438000 33 7 0 0 0.001984 0 0 NEK2 4751 broad.mit.edu 37 1 211847012 211847012 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:211847012G>A uc001hir.2 - 2 519 c.368C>T c.(367-369)gCc>gTc p.A123V NEK2_uc021piq.1_Missense_Mutation_p.A123V|NEK2_uc001his.4_Missense_Mutation_p.A123V|NEK2_uc001hit.2_Non-coding_Transcript NM_002497 NP_002488 P51955 NEK2_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA. 123 Protein kinase. G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) TTCCTTCAGGGCCAGAGTCAA 0.418000 29 33 0 0 0.003271 0 0 SLC5A11 115584 broad.mit.edu 37 16 24909426 24909426 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:24909426C>T uc002dmu.3 + 9 1233 c.1002C>T c.(1000-1002)ttC>ttT p.F334F SLC5A11_uc002dms.3_Silent_p.F270F|SLC5A11_uc010vcd.2_Silent_p.F299F|SLC5A11_uc002dmt.3_Missense_Mutation_p.P202S|SLC5A11_uc010vce.2_Silent_p.F264F|SLC5A11_uc010bxt.3_Silent_p.F270F NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA. 334 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) GCATCCTCTTCCCAGGTGAGA 0.493000 31 39 0 0 0.006999 0 0 TPTE2 93492 broad.mit.edu 37 13 19997285 19997285 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:19997285C>T uc001umd.3 - 20 1697 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E385K|TPTE2_uc001ume.3_Missense_Mutation_p.E419K|TPTE2_uc009zzm.3_Missense_Mutation_p.E167K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E167K NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 496 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E419*(1)|p.E496*(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTATCCAATTCATTTCTTGGT 0.368000 38 13 0 0 0.001368 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056726 120056726 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:120056726G>A uc001ehv.1 + 3 725 c.580G>A c.(580-582)Gga>Aga p.G194R NM_000862 NP_000853 P14060 3BHS1_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA. 194 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CTATGGGGAAGGAAGCCGATT 0.498000 859 21 0 0 0.003330 0 0 ARAP2 116984 broad.mit.edu 37 4 36214080 36214080 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:36214080G>A uc003gsq.2 - 4 1409 c.1071C>T c.(1069-1071)acC>acT p.T357T ARAP2_uc003gsr.1_Silent_p.T357T NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 357 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CTTCTCCCTGGGTCAAAAATT 0.333000 34 6 0 0 0.003080 0 0 PMCH 5367 broad.mit.edu 37 12 102591410 102591410 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:102591410C>T uc001tjl.3 - 0 205 c.139G>A c.(139-141)Ggc>Agc p.G47S NM_002674 NP_002665 P20382 MCH_HUMAN Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA. 47 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 6 TTCTGAAAGCCTTTCCCCAAC 0.343000 16 27 0 0 0.006320 0 0 MB21D2 151963 broad.mit.edu 37 3 192516251 192516251 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:192516251C>T uc011bsp.2 - 1 1721 c.1400G>A c.(1399-1401)gGa>gAa p.G467E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA. 467 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GATTGACTTTCCCGGGTTCTC 0.473000 67 47 0 0 0.003610 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103442121 103442121 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:103442121C>T uc001ymi.1 - 10 1639 c.1407G>A c.(1405-1407)caG>caA p.Q469Q NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA. 469 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CGTGGAGGGACTGCACGGTCT 0.577000 108 24 0 0 0.008361 0 0 MYO1G 64005 broad.mit.edu 37 7 45007284 45007284 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:45007284C>T uc003tmh.2 - 13 1846 c.1702G>A c.(1702-1704)Gag>Aag p.E568K MYO1G_uc003tmg.2_Missense_Mutation_p.E330K|MYO1G_uc010kym.2_Missense_Mutation_p.E453K|MYO1G_uc003tmi.1_Missense_Mutation_p.E480K NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN Homo sapiens myosin IG (MYO1G), mRNA. 568 Myosin head-like. myosin complex|plasma membrane ATP binding|actin binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TTGGTCACCTCTGTGATGTCC 0.637000 17 11 0 0 0.000978 0 0 NXF4 55999 broad.mit.edu 37 X 101818258 101818258 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:101818258G>A uc004ejf.1 + 6 c.848G>A Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA. endometrium(2)|lung(8) 10 AGTCTGCCTGGAAAGGAGACT 0.567000 1 60 0 0 0.003610 0 0 KCNN3 3782 broad.mit.edu 37 1 154841962 154841962 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:154841962G>A uc021pah.1 - 0 793 c.479C>T c.(478-480)cCc>cTc p.P160L KCNN3_uc001ffp.3_Missense_Mutation_p.P160L|KCNN3_uc009wox.1_Missense_Mutation_p.P160L NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 165 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GTGCACCAGGGGGCTGGCCTG 0.647000 12 22 0 0 0.004656 0 0 SLC26A9 115019 broad.mit.edu 37 1 205897030 205897030 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:205897030C>T uc001hdp.3 - 9 1215 c.1101_splice c.e9+1 p.Q367_splice SLC26A9_uc001hdo.3_Splice_Site_p.Q35_splice|SLC26A9_uc001hdq.3_Splice_Site_p.Q367_splice NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 367 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCAGAGCTACCTGGTTCGAAT 0.607000 53 10 0 0 0.003163 0 0 PARVG 64098 broad.mit.edu 37 22 44602292 44602292 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:44602292G>A uc011aqe.2 + 13 1406 c.982G>A c.(982-984)Gga>Aga p.G328R PARVG_uc003bep.3_Missense_Mutation_p.G328R|PARVG_uc011aqf.2_Missense_Mutation_p.G328R NM_001137605 NP_071424 Q9HBI0 PARVG_HUMAN Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA. 328 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GACGCCCCATGGAGCCCCGAA 0.622000 7 16 0 0 0.004990 0 0 PTPRD 5789 broad.mit.edu 37 9 8317885 8317885 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:8317885A>T uc003zkk.3 - 45 6471 c.5728T>A c.(5728-5730)Tat>Aat p.Y1910N PTPRD_uc003zkp.3_Missense_Mutation_p.Y1504N|PTPRD_uc003zkq.3_Missense_Mutation_p.Y1503N|PTPRD_uc003zkr.3_Missense_Mutation_p.Y1494N|PTPRD_uc003zks.3_Missense_Mutation_p.Y1503N|PTPRD_uc022bdj.1_Missense_Mutation_p.Y1500N NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1910 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TACGTTGCATAGTGGTCAAAG 0.478000 TSP Lung(15;0.13) 32 27 0 0 0.003271 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45457815 45457815 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:45457815C>T uc001rol.3 - 0 c.1380G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TCTGCTGCTTCCATAAAGGCT 0.443000 42 17 0 0 0.004990 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856890 62856890 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:62856890G>A uc002jey.2 - 10 3990 c.3374C>T c.(3373-3375)cCt>cTt p.P1125L LRRC37A3_uc010wqg.1_Missense_Mutation_p.P243L|LRRC37A3_uc002jex.1_Missense_Mutation_p.P102L|LRRC37A3_uc010wqf.1_Missense_Mutation_p.P163L|LRRC37A3_uc010dek.1_Missense_Mutation_p.P131L|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1125 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TGAGAAATAAGGTAAGATGTA 0.453000 281 93 0 0 0.003610 0 0 ZNF74 7625 broad.mit.edu 37 22 20760718 20760718 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:20760718C>T uc010gsm.3 + 5 1607 c.1395C>T c.(1393-1395)atC>atT p.I465I ZNF74_uc002zsg.3_Silent_p.I394I|ZNF74_uc002zsh.3_Silent_p.I465I|ZNF74_uc002zsi.3_Silent_p.I394I|ZNF74_uc010gsn.3_Silent_p.I394I NM_003426 NP_003417 Q16587 ZNF74_HUMAN Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA. 465 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ACCGGCGCATCCACAGCGGCG 0.657000 31 8 0 0 0.003080 0 0 KIAA1751 85452 broad.mit.edu 37 1 1919980 1919980 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:1919980C>T uc001aim.1 - 3 423 c.267G>A c.(265-267)gaG>gaA p.E89E KIAA1751_uc009vkz.1_Silent_p.E89E|KIAA1751_uc001ain.1_Silent_p.E89E NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 89 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCTCTTGCTCCTCATGCATCT 0.547000 21 8 0 0 0.006214 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053420 5053420 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:5053420T>A uc002cye.2 + 10 1328 c.1148T>A c.(1147-1149)cTa>cAa p.L383Q NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 383 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 ACCTGCCTGCTAGACCTGGAG 0.632000 14 8 0 0 0.008291 0 0 FAM120A 23196 broad.mit.edu 37 9 96320190 96320190 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:96320190C>T uc004atw.3 + 13 2591 c.2566C>T c.(2566-2568)Cct>Tct p.P856S FAM120A_uc004aty.3_Missense_Mutation_p.P637S|FAM120A_uc004atz.3_Missense_Mutation_p.P505S|FAM120A_uc010mrg.3_Missense_Mutation_p.P169S NM_014612 NP_055427 Q9NZB2 F120A_HUMAN Homo sapiens family with sequence similarity 120A (FAM120A), mRNA. 856 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCACACGCTCCCTTTCCCGCC 0.657000 13 10 0 0 0.006214 0 0 SPEG 10290 broad.mit.edu 37 2 220338472 220338472 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:220338472G>A uc010fwg.3 + 17 4294 c.4294G>A c.(4294-4296)Gca>Aca p.A1432T NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1432 Ig-like 7. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCTCCTAGAGGCACGGGCCGG 0.672000 48 19 0 0 0.007413 0 0 CDH19 28513 broad.mit.edu 37 18 64235818 64235818 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:64235818C>T uc002lkc.1 - 2 463 c.325G>A c.(325-327)Gag>Aag p.E109K CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.E109K|CDH19_uc002lkd.3_Missense_Mutation_p.E109K NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 109 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AGGGATCGCTCCTCTCTATCA 0.433000 47 22 0 0 0.002780 0 0 ERC2 26059 broad.mit.edu 37 3 56330152 56330152 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:56330152C>T uc021wzo.1 - 1 1109 c.969G>A c.(967-969)gaG>gaA p.E323E ERC2_uc003dhr.1_Silent_p.E323E NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 323 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CATTGTCATCCTCCAGGCTTT 0.443000 100 94 0 0 0.003610 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442523 37442523 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:37442523G>A uc021ppc.1 + 12 1662 c.1563G>A c.(1561-1563)caG>caA p.Q521Q ANKRD30A_uc001iza.1_Silent_p.Q521Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 577 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 CTGTTTCACAGAAGGATGTGT 0.279000 207 37 0 0 0.003610 0 0 RABGAP1 23637 broad.mit.edu 37 9 125777884 125777884 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:125777884C>T uc011lzh.2 + 11 1746 c.1612C>T c.(1612-1614)Ctt>Ttt p.L538F RABGAP1_uc004bnl.4_Non-coding_Transcript NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 538 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AGAAAAAATTCTTGAAACATG 0.323000 13 16 0 0 0.004007 0 0 MYO15A 51168 broad.mit.edu 37 17 18025694 18025694 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:18025694G>A uc021trm.1 + 0 3799 c.3580G>A c.(3580-3582)Gag>Aag p.E1194K MYO15A_uc021trl.1_Missense_Mutation_p.E1194K NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 1194 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTCCTGGGAGGAGGTCGGCCC 0.632000 21 16 0 0 0.004990 0 0 ASUN 55726 broad.mit.edu 37 12 27070630 27070630 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:27070630G>A uc001rhk.4 - 8 1463 c.926C>T c.(925-927)tCg>tTg p.S309L ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.S208L NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA. 309 cell division|mitosis|regulation of mitotic cell cycle protein binding TTCTTTAAACGAGCCTTCTCG 0.353000 27 21 0 0 0.002780 0 0 GPR98 84059 broad.mit.edu 37 5 89948162 89948162 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:89948162G>A uc003kju.3 + 19 3513 c.3417_splice c.e19-1 p.W1139_splice GPR98_uc003kjt.3_Splice_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1139 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) TTATTTTGTAGGATTTTGAGG 0.343000 67 29 0 0 0.007291 0 0 SCGN 10590 broad.mit.edu 37 6 25670232 25670232 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:25670232C>T uc003nfb.3 + 5 602 c.399C>T c.(397-399)ttC>ttT p.F133F SCGN_uc010jpz.3_Missense_Mutation_p.S43F NM_006998 NP_008929 O76038 SEGN_HUMAN Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA. 133 EF-hand 3. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CACAGAACTTCCTCCGAGACC 0.398000 236 53 0 0 0.003610 0 0 DPPA4 55211 broad.mit.edu 37 3 109050768 109050768 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:109050768C>T uc003dxq.4 - 2 344 c.289G>A c.(289-291)Gac>Aac p.D97N DPPA4_uc011bho.2_Missense_Mutation_p.D97N|DPPA4_uc011bhp.1_Missense_Mutation_p.D97N NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 97 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CGCAGAATGTCCCGGTGAATC 0.537000 55 9 0 0 0.000978 0 0 GPR98 84059 broad.mit.edu 37 5 89971149 89971149 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:89971149G>A uc003kju.3 + 23 5296 c.5200G>A c.(5200-5202)Gag>Aag p.E1734K GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1734 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) CACTGTGGAGGAGGAAGATGG 0.537000 20 4 0 0 0.000602 0 0 TPO 7173 broad.mit.edu 37 2 1488370 1488370 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:1488370C>T uc002qwr.3 + 8 1427 c.1341C>T c.(1339-1341)atC>atT p.I447I TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.I447I|TPO_uc002qwx.3_Silent_p.I447I|TPO_uc002qwu.3_Silent_p.I447I|TPO_uc010yio.2_Silent_p.I274I|TPO_uc010yip.2_Silent_p.I447I|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 447 I -> F (in TDH2A). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTGCACAGATCATCACCCTGA 0.587000 7 11 0 0 0.000978 0 0 MRPS5 64969 broad.mit.edu 37 2 95756221 95756221 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:95756221G>A uc002sub.3 - 10 1196 c.978C>T c.(976-978)ctC>ctT p.L326L MRPS5_uc002suc.3_Non-coding_Transcript NM_031902 NP_114108 P82675 RT05_HUMAN Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA. 326 translation mitochondrion|ribosome RNA binding|protein binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGATGCCAATGAGCCGGCAGA 0.567000 44 22 0 0 0.002780 0 0 NPY2R 4887 broad.mit.edu 37 4 156135355 156135355 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:156135355C>T uc003ioq.3 + 1 753 c.264C>T c.(262-264)ttC>ttT p.F88F NPY2R_uc003ior.3_Silent_p.F88F|NPY2R_uc021xtm.1_Silent_p.F88F NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 88 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCAACTTTTTCATTGCCAATC 0.473000 35 15 0 0 0.002450 0 0 LRP5 4041 broad.mit.edu 37 11 68171002 68171002 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:68171002C>T uc001ont.3 + 7 1711 c.1636C>T c.(1636-1638)Ccg>Tcg p.P546S LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 546 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity p.P546P(1) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGACAAGCTCCCGCACATTTT 0.602000 25 21 0 0 0.007291 0 0 NUP214 8021 broad.mit.edu 37 9 134073038 134073039 + Missense_Mutation DNP CC TT TT rs3739507 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:134073038_134073039CC>TT uc004cag.3 + 28 4268_4269 c.4157_4158CC>TT c.(4156-4158)ccc>cTT p.P1386L NUP214_uc004cah.3_Missense_Mutation_p.P1376L|NUP214_uc004cai.3_Missense_Mutation_p.P816L|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P212L|NUP214_uc011mcf.1_Missense_Mutation_p.P163L|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1386 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CACACGGAGCCCCCTGTGACAT 0.574000 T """DEK, SET, ABL1""" """AML, T-ALL""" 32 31 0 0 0.004672 0 0 ZFP106 64397 broad.mit.edu 37 15 42743992 42743992 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:42743992C>T uc001zpw.3 - 1 736 c.409G>A c.(409-411)Gat>Aat p.D137N ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Missense_Mutation_p.D160N NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 137 nucleolus zinc ion binding p.D137fs*4(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TTAAAGCCATCTTTTTCCCAT 0.488000 37 35 0 0 0.002836 0 0 NAA11 84779 broad.mit.edu 37 4 80246882 80246882 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:80246882C>T uc003hlt.4 - 0 290 c.150G>A c.(148-150)ggG>ggA p.G50G NAA11_uc021xpl.1_Silent_p.G50G NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA. 50 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding p.D49D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 CCACAATCTTCCCGTCCTCAT 0.522000 69 16 0 0 0.006122 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370584 86370584 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:86370584G>A uc001vll.1 - 1 519 c.60C>T c.(58-60)tcC>tcT p.S20S SLITRK6_uc021rla.1_Silent_p.S20S NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 20 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CTGGAGTTTGGGAGTGTAAAG 0.383000 33 15 0 0 0.002450 0 0 ZNF233 353355 broad.mit.edu 37 19 44777836 44777836 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:44777836C>T uc021uvi.1 + 4 1129 c.1023C>T c.(1021-1023)ctC>ctT p.L341L ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Silent_p.L156L|ZNF233_uc002oyz.2_Silent_p.L341L NM_001207005 NP_001193934 A6NK53 ZN233_HUMAN Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA. 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GAGAGAACCTCTACAGATGTC 0.507000 17 8 0 0 0.003080 0 0 SMC6 79677 broad.mit.edu 37 2 17877687 17877687 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:17877687A>T uc002rco.3 - 21 2697 c.2401T>A c.(2401-2403)Tta>Ata p.L801I SMC6_uc010exo.3_Missense_Mutation_p.L801I|SMC6_uc002rcn.3_Missense_Mutation_p.L801I|SMC6_uc002rcp.1_Missense_Mutation_p.L827I NM_001142286 NP_078900 Q96SB8 SMC6_HUMAN Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA. 801 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCAAGGTTTAATTCATCCTGT 0.313000 23 27 0 0 0.007291 0 0 EBF3 253738 broad.mit.edu 37 10 131671774 131671774 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:131671774C>T uc021qav.1 - 7 782 c.681G>A c.(679-681)ggG>ggA p.G227G EBF3_uc001lki.2_Silent_p.G241G NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 241 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.A227A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGGCCCGCCTCCCGTGTTTGG 0.507000 31 20 0 0 0.002299 0 0 SEC24B 10427 broad.mit.edu 37 4 110431225 110431225 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:110431225G>A uc003hzk.3 + 7 1789 c.1734G>A c.(1732-1734)aaG>aaA p.K578K SEC24B_uc003hzl.3_Silent_p.K543K|SEC24B_uc011cfp.2_Silent_p.K608K|SEC24B_uc011cfq.2_Silent_p.K577K|SEC24B_uc011cfr.2_Silent_p.K542K NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 578 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ATAAAGCTAAGCTTCCTTTAG 0.343000 31 18 0 0 0.007413 0 0 DFNB31 25861 broad.mit.edu 37 9 117168646 117168646 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:117168646G>A uc004biy.4 - 8 1716 c.1076C>T c.(1075-1077)cCc>cTc p.P359L DFNB31_uc004bix.3_Missense_Mutation_p.P391L|DFNB31_uc004biz.4_Missense_Mutation_p.P742L|DFNB31_uc004bja.4_Missense_Mutation_p.P742L NM_001083885 NP_001077354 Q9P202 WHRN_HUMAN Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA. 742 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCGCGTCTGGGGCAGCGCCCT 0.617000 45 21 0 0 0.002780 0 0 EPN2 22905 broad.mit.edu 37 17 19237289 19237289 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:19237289C>T uc002gvd.4 + 10 2096 c.1648C>T c.(1648-1650)Cct>Tct p.P550S EPN2_uc002gve.4_Missense_Mutation_p.P493S|EPN2_uc002gvf.4_Missense_Mutation_p.P265S|EPN2_uc010vyo.2_Missense_Mutation_p.P258S|EPN2_uc002gvh.1_Intron|EPN2_uc010vyp.2_Missense_Mutation_p.P486S|EPN2_uc010vyq.2_Missense_Mutation_p.P487S|EPN2_uc002gvj.3_Intron NM_014964 NP_001096134 O95208 EPN2_HUMAN Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA. 550 3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CACCTCGGCCCCTGTTAACCC 0.662000 14 4 0 0 0.000602 0 0 KIF12 113220 broad.mit.edu 37 9 116857371 116857371 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:116857371C>T uc004bif.3 - 7 875 c.637G>A c.(637-639)Gag>Aag p.E213K KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 346 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CTGAGAGTCTCAGGAAGGCAC 0.647000 23 10 0 0 0.006214 0 0 SLIT3 6586 broad.mit.edu 37 5 168222552 168222552 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:168222552G>A uc010jjg.3 - 9 1387 c.967C>T c.(967-969)Cct>Tct p.P323S SLIT3_uc003mab.3_Missense_Mutation_p.P323S|SLIT3_uc010jji.2_Missense_Mutation_p.P323S|SLIT3_uc003mac.1_Missense_Mutation_p.P120S NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 323 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding p.I322I(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTCCTGCAGGGATGGCTTTG 0.483000 46 18 0 0 0.008871 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049230 23049230 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:23049230C>T uc003xda.3 - 9 1490 c.1384G>A c.(1384-1386)Ggc>Agc p.G462S NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 462 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) ACGGCAGAGCCTGTGCCATCT 0.423000 16 18 0 0 0.001523 0 0 TACC2 10579 broad.mit.edu 37 10 123843060 123843060 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:123843060G>A uc001lfv.3 + 3 1405 c.1045G>A c.(1045-1047)Ggc>Agc p.G349S TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G349S|TACC2_uc010qtv.2_Missense_Mutation_p.G349S NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 349 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCTGCCCTGGGGCTTGCCAAG 0.632000 17 15 0 0 0.004990 0 0 HORMAD2 150280 broad.mit.edu 37 22 30494852 30494852 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:30494852C>T uc003agy.3 + 2 128 c.63C>T c.(61-63)ttC>ttT p.F21F NM_152510 NP_689723 Q8N7B1 HORM2_HUMAN Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA. 21 meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) AAACAGTTTTCCCATCCCAAA 0.338000 64 47 0 0 0.003610 0 0 IGSF9 57549 broad.mit.edu 37 1 159907490 159907490 + Missense_Mutation SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:159907490T>G uc001fur.2 - 3 584 c.386A>C c.(385-387)cAt>cCt p.H129P IGSF9_uc001fuq.2_Missense_Mutation_p.H129P NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 129 cell junction|integral to membrane|synapse p.V128M(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GACTGTCAGATGCACCCAGGA 0.597000 39 24 0 0 0.004656 0 0 FOXF1 2294 broad.mit.edu 37 16 86544757 86544757 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:86544757G>A uc002fjl.3 + 0 625 c.582G>A c.(580-582)atG>atA p.M194I FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN Homo sapiens forkhead box F1 (FOXF1), mRNA. 194 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 GCCTGGGCATGATGAACGGCC 0.711000 5 7 0 0 0.001984 0 0 GRIA1 2890 broad.mit.edu 37 5 153149817 153149817 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:153149817G>A uc011dcy.2 + 12 2169 c.2142G>A c.(2140-2142)atG>atA p.M714I GRIA1_uc003lva.4_Missense_Mutation_p.M704I|GRIA1_uc003luy.4_Missense_Mutation_p.M704I|GRIA1_uc003luz.4_Missense_Mutation_p.M609I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.M624I|GRIA1_uc011dcx.2_Missense_Mutation_p.M635I|GRIA1_uc011dcz.2_Missense_Mutation_p.M714I NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 704 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGAGGGGATGATTCGAGTGA 0.488000 16 22 0 0 0.001523 0 0 VPS33A 65082 broad.mit.edu 37 12 122735567 122735567 + Missense_Mutation SNP G A A rs150571876 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:122735567G>A uc001ucd.3 - 4 676 c.563C>T c.(562-564)aCg>aTg p.T188M VPS33A_uc001ucc.3_Intron NM_022916 NP_075067 Q96AX1 VP33A_HUMAN Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA. 188 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CTGGGGGATCGTTCCATACAG 0.572000 23 16 0 0 0.004007 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529150 102529150 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:102529150C>T uc022cbm.1 - 0 342 c.342G>A c.(340-342)cgG>cgA p.R114R TCEAL5_uc004ejz.2_Silent_p.R114R NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN Homo sapiens transcription elongation factor A (SII)-like 5 (TCEAL5), mRNA. 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TTTTTGCTTTCCGGGGCACAT 0.582000 29 22 0 0 0.001882 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143403 61143403 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:61143403C>T uc002ycy.3 - 4 c.1278G>A C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA. ACCCCCTCTCCCTGGCAGCCG 0.642000 16 14 0 0 0.002450 0 0 CASR 846 broad.mit.edu 37 3 122002604 122002604 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:122002604G>A uc003eew.4 + 6 2271 c.1833G>A c.(1831-1833)aaG>aaA p.K611K CASR_uc003eev.4_Silent_p.K601K NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 601 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GCATTGCCAAGGAGATCGAGT 0.517000 32 36 0 0 0.006999 0 0 ZNF622 90441 broad.mit.edu 37 5 16451855 16451855 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:16451855G>A uc003jfq.3 - 5 1465 c.1345C>T c.(1345-1347)Caa>Taa p.Q449* NM_033414 NP_219482 Q969S3 ZN622_HUMAN Homo sapiens zinc finger protein 622 (ZNF622), mRNA. 449 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TTCATCCTTTGGACATACTGC 0.438000 24 28 0 0 0.006320 0 0 SERPINE2 5270 broad.mit.edu 37 2 224856534 224856534 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:224856534G>A uc010zlr.1 - 3 844 c.707C>T c.(706-708)tCc>tTc p.S236F SERPINE2_uc002vnu.2_Missense_Mutation_p.S224F|SERPINE2_uc002vnv.2_Missense_Mutation_p.S224F NM_001136530 NP_001130000 P07093 GDN_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA. 224 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CCGGAACACGGAGAGCTGGGC 0.527000 15 7 0 0 0.004482 0 0 TAB2 23118 broad.mit.edu 37 6 149699616 149699616 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:149699616C>T uc003qmj.3 + 2 743 c.565C>T c.(565-567)Cgt>Tgt p.R189C TAB2_uc011eec.2_Missense_Mutation_p.R157C|TAB2_uc010kia.1_Missense_Mutation_p.R189C|TAB2_uc010kib.2_Missense_Mutation_p.R189C|TAB2_uc003qmk.4_Non-coding_Transcript NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA. 189 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding p.G188C(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 CCAGACTGGTCGTAATACTCC 0.408000 30 30 0 0 0.008361 0 0 SWAP70 23075 broad.mit.edu 37 11 9746214 9746214 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:9746214C>T uc001mhw.3 + 3 523 c.424C>T c.(424-426)Ctg>Ttg p.L142L SWAP70_uc001mhv.3_Silent_p.L142L|SWAP70_uc001mhx.3_Silent_p.L84L NM_015055 NP_055870 Q9UH65 SWP70_HUMAN Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA. 142 cytoplasm|lamellipodium|nucleus|plasma membrane DNA binding|calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) GATTGAATACCTGCTTAAGAA 0.299000 19 9 0 0 0.006214 0 0 MTMR14 64419 broad.mit.edu 37 3 9731824 9731824 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:9731824C>T uc003brz.3 + 16 1761 c.1610C>T c.(1609-1611)cCc>cTc p.P537L MTMR14_uc003bsa.3_Missense_Mutation_p.P537L|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Intron|MTMR14_uc021wss.1_Missense_Mutation_p.P160L NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA. 537 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GTCCCCAAACCCAGGTGAGGA 0.572000 24 10 0 0 0.008291 0 0 CATSPER1 117144 broad.mit.edu 37 11 65792699 65792699 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:65792699C>T uc001ogt.3 - 0 1290 c.1152G>A c.(1150-1152)caG>caA p.Q384Q NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA. 384 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TGGAGATATCCTGGGTATGGA 0.537000 24 13 0 0 0.001855 0 0 CLASP1 23332 broad.mit.edu 37 2 122217648 122217648 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:122217648G>A uc002tnc.3 - 11 1476 c.1086C>T c.(1084-1086)ttC>ttT p.F362F CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.F362F|CLASP1_uc010yza.2_Silent_p.F362F|CLASP1_uc021vnl.1_Silent_p.F362F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Silent_p.F362F NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA. 362 G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) AATGTTGAAAGAAGTTATCAT 0.403000 38 16 0 0 0.006122 0 0 C19orf45 374877 broad.mit.edu 37 19 7573212 7573212 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:7573212G>A uc002mgm.2 + 8 1555 c.1414G>A c.(1414-1416)Gag>Aag p.E472K NM_198534 NP_940936 Q8NA69 CS045_HUMAN Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA. 472 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 AAATCCTCAGGAGGGCTTCGT 0.612000 16 14 0 0 0.003163 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906440 164906440 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:164906440G>A uc003fej.4 - 1 2623 c.2179C>T c.(2179-2181)Ctt>Ttt p.L727F SLITRK3_uc003fek.3_Missense_Mutation_p.L727F|SLITRK3_uc021xgy.1_Missense_Mutation_p.L727F NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 727 integral to membrane p.T726S(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGAGAGGAAAGAGTTGGTCGa 0.567000 HNSCC(40;0.11) 12 19 0 0 0.007413 0 0 CGNL1 84952 broad.mit.edu 37 15 57731401 57731401 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:57731401G>A uc010bfw.3 + 2 1397 c.1204G>A c.(1204-1206)Gag>Aag p.E402K CGNL1_uc002aeg.3_Missense_Mutation_p.E402K NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 402 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGGGAACTCGGAGTACCTGAT 0.542000 50 67 0 0 0.003610 0 0 PLCB4 5332 broad.mit.edu 37 20 9364916 9364916 + Missense_Mutation SNP C T T rs78074693 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:9364916C>T uc021wam.1 + 10 937 c.922C>T c.(922-924)Cgt>Tgt p.R308C PLCB4_uc010gbw.1_Missense_Mutation_p.R308C|PLCB4_uc010gbx.3_Missense_Mutation_p.R308C|PLCB4_uc021wal.1_Missense_Mutation_p.R308C|PLCB4_uc002wnh.3_Missense_Mutation_p.R155C NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 308 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CTTCCTAGATCGTTTAGAACT 0.443000 41 29 0 0 0.001786 0 0 ANK3 288 broad.mit.edu 37 10 61828521 61828521 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:61828521C>T uc001jky.3 - 36 12456 c.12118G>A c.(12118-12120)Gag>Aag p.E4040K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4040 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CGGGAAGTCTCGGACAACGAC 0.488000 76 26 0 0 0.005443 0 0 PTPRU 10076 broad.mit.edu 37 1 29631876 29631876 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:29631876G>A uc001bru.3 + 18 2915 c.2786G>A c.(2785-2787)cGa>cAa p.R929Q PTPRU_uc009vtq.3_Missense_Mutation_p.R919Q|PTPRU_uc009vtr.3_Missense_Mutation_p.R919Q|PTPRU_uc001brw.3_Missense_Mutation_p.R919Q NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 929 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity p.H928Q(1) breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GATCGGCACCGAGTGAAACTG 0.567000 14 35 0 0 0.004289 0 0 BCMO1 53630 broad.mit.edu 37 16 81303925 81303925 + Silent SNP C T T rs141341532 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:81303925C>T uc002fgn.1 + 6 1223 c.1005C>T c.(1003-1005)ttC>ttT p.F335F BCMO1_uc010vnp.1_Silent_p.F266F NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 335 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ACCAGCTCTTCTACCTGGCCA 0.577000 24 32 0 0 0.003755 0 0 GTF3C3 9330 broad.mit.edu 37 2 197650231 197650231 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:197650231G>A uc002uts.3 - 6 1132 c.975C>T c.(973-975)tcC>tcT p.S325S GTF3C3_uc010zgu.2_Silent_p.S325S|GTF3C3_uc002utu.3_Silent_p.S325S|GTF3C3_uc002utt.4_5'UTR NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA. 325 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CATCTTCCATGGAGACTAGGC 0.348000 14 21 0 0 0.001523 0 0 DNAH10 196385 broad.mit.edu 37 12 124285948 124285948 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:124285948G>A uc001uft.4 + 14 2254 c.2229G>A c.(2227-2229)tcG>tcA p.S743S DNAH10_uc010tav.1_Silent_p.S285S|DNAH10_uc010taw.1_Silent_p.S228S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 743 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) TGTTTAGGTCGGGATATAAGA 0.408000 65 14 0 0 0.003163 0 0 SNRPA 6626 broad.mit.edu 37 19 41265428 41265428 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:41265428C>T uc002ooz.3 + 2 894 c.339C>T c.(337-339)ccC>ccT p.P113P NM_004596 NP_004587 P09012 SNRPA_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. 113 nucleoplasm|spliceosomal complex RNA binding|nucleotide binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGAGGAAGCCCAAGAGCCAGG 0.627000 30 9 0 0 0.006214 0 0 TAF3 83860 broad.mit.edu 37 10 8051254 8051254 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:8051254C>T uc010qbd.2 + 4 2529 c.2529C>T c.(2527-2529)ccC>ccT p.P843P NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA. 843 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CCAAAGCCCCCGTGCGCAGCG 0.721000 4 4 0 0 0.000248 0 0 MAP3K14 9020 broad.mit.edu 37 17 43364706 43364706 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:43364706G>A uc002iiw.1 - 3 460 c.351C>T c.(349-351)atC>atT p.I117I MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA. 117 I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CATTGTTGGGGATCTGATCAA 0.517000 27 5 0 0 0.001984 0 0 ODZ2 57451 broad.mit.edu 37 5 167687292 167687292 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:167687292G>A uc010jjd.3 + 27 7410 c.7410G>A c.(7408-7410)gtG>gtA p.V2470V ODZ2_uc003lzr.4_Silent_p.V2240V|ODZ2_uc003lzt.4_Silent_p.V1843V|ODZ2_uc010jje.3_Silent_p.V1734V NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CCATAGATGTGAAAAGCTGGC 0.418000 20 38 0 0 0.007835 0 0 SCUBE1 80274 broad.mit.edu 37 22 43654224 43654224 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:43654224C>T uc003bdt.2 - 6 854 c.727_splice c.e6+1 p.E243_splice SCUBE1_uc003bdu.2_Splice_Site_p.E243_splice NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 243 EGF-like 6 (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TGCCTACTTACCGATGCACGT 0.677000 25 13 0 0 0.003163 0 0 OR5D14 219436 broad.mit.edu 37 11 55563485 55563485 + Missense_Mutation SNP C T T rs138241507 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:55563485C>T uc010rim.2 + 0 454 c.454C>T c.(454-456)Ctc>Ttc p.L152F NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGGGTCATATCTCTGGGGCAT 0.498000 10 43 0 0 0.007835 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916248 9916248 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:9916248G>A uc010uym.2 - 10 2351 c.2041C>T c.(2041-2043)Cga>Tga p.R681* GRIN2A_uc002czo.4_Nonsense_Mutation_p.R681*|GRIN2A_uc010uyn.2_Nonsense_Mutation_p.R524*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.R681* NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 681 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R681*(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCCAAATCGAAAAGGTGGG 0.448000 35 19 0 0 0.007413 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 33 9 0 0 0.008291 0 0 HSPG2 3339 broad.mit.edu 37 1 22203098 22203098 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:22203098G>A uc009vqd.3 - 21 2776 c.2736C>T c.(2734-2736)ttC>ttT p.F912F HSPG2_uc001bfj.3_Silent_p.F911F NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 911 Laminin EGF-like 4; truncated. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TACTCAGGTGGAAAGAGCCGT 0.592000 14 6 0 0 0.001984 0 0 ADAM28 10863 broad.mit.edu 37 8 24170965 24170965 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:24170965G>A uc003xdy.3 + 5 531 c.448G>A c.(448-450)Gga>Aga p.G150R ADAM28_uc003xdx.3_Missense_Mutation_p.G150R|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 150 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ACATCGGGATGGACAGGAGCA 0.448000 45 15 0 0 0.002450 0 0 LRP1B 53353 broad.mit.edu 37 2 141143549 141143549 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:141143549G>A uc002tvj.1 - 66 11416 c.10444C>T c.(10444-10446)Cag>Tag p.Q3482* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3482 LDL-receptor class A 25. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTTACACTGGAATTCATGA 0.403000 TSP Lung(27;0.18) 35 42 0 0 0.002522 0 0 TRPM1 4308 broad.mit.edu 37 15 31339375 31339375 + Missense_Mutation SNP C T T rs147667317 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:31339375C>T uc021sia.1 - 13 2068 c.1754G>A c.(1753-1755)cGc>cAc p.R585H TRPM1_uc010azy.3_Missense_Mutation_p.R453H|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R568H|TRPM1_uc001zfm.3_Missense_Mutation_p.R546H NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 546 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTAGTTGCAGCGGTAGGCTCC 0.507000 43 36 0 0 0.006999 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54974739 54974740 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:54974739_54974740CC>TT uc001sgg.2 - 5 669_670 c.498_499GG>AA c.(496-501)aaggga>aaAAga p.G167R NM_006741 NP_006732 Q13522 PPR1A_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA. 167 Interaction with PPP1R15A. glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 GAGTTGGCTCCCTTGGAATCCA 0.510000 106 45 0 0 0.004672 0 0 POLD2 5425 broad.mit.edu 37 7 44157611 44157611 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:44157611G>C uc010kxz.3 - 3 923 c.273C>G c.(271-273)tgC>tgG p.C91W POLD2_uc010kya.3_Missense_Mutation_p.C91W|POLD2_uc003tkf.4_Missense_Mutation_p.C91W NM_006230 NP_006221 P49005 DPOD2_HUMAN Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA. 91 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 CCACCACACAGCACTTCTCCT 0.637000 27 14 0 0 0.002450 0 0 BSN 8927 broad.mit.edu 37 3 49699631 49699631 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:49699631G>A uc003cxe.4 + 5 10467 c.10353G>A c.(10351-10353)ggG>ggA p.G3451G NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3451 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CATACAGTGGGGAGAAGCTGT 0.607000 18 20 0 0 0.001882 0 0 UBTD2 92181 broad.mit.edu 37 5 171638903 171638904 + Missense_Mutation DNP GA AT AT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:171638903_171638904GA>AT uc003mbp.1 - 2 761_762 c.635_636TC>AT c.(634-636)atc>aAT p.I212N NM_152277 NP_689490 Q8WUN7 UBTD2_HUMAN Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA. 212 Ubiquitin-like. cytoplasm cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGTCCTTTGGGATCTTCAGCTC 0.515000 32 19 0 0 0.004672 0 0 C10orf113 387638 broad.mit.edu 37 10 21435425 21435425 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:21435425C>T uc001iqm.3 - 0 64 c.13G>A c.(13-15)Gaa>Aaa p.E5K NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.E5K NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 5 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 ATTCTTCTTTCACTTTTAGCC 0.383000 23 23 0 0 0.005443 0 0 OR13C4 138804 broad.mit.edu 37 9 107289476 107289476 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:107289476G>A uc011lvn.2 - 0 15 c.15C>T c.(13-15)aaC>aaT p.N5N NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N5I(1) breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CAAATGTCTGGTTTATCTTGT 0.368000 39 15 0 0 0.004007 0 0 EVPL 2125 broad.mit.edu 37 17 74003218 74003218 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:74003218G>A uc010wss.1 - 21 6362 c.6134C>T c.(6133-6135)tCc>tTc p.S2045F EVPL_uc002jqi.2_Missense_Mutation_p.S2023F|EVPL_uc010wst.1_Missense_Mutation_p.S1493F NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 2023 keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGGGAGGCGGAGCGGTAGCA 0.687000 16 6 0 0 0.001984 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97371115 97371115 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:97371115C>T uc001kkz.3 - 15 2250 c.2008G>A c.(2008-2010)Gac>Aac p.D670N ALDH18A1_uc001kky.3_Missense_Mutation_p.D668N|ALDH18A1_uc010qog.2_Missense_Mutation_p.D559N|ALDH18A1_uc010qoh.2_Missense_Mutation_p.D458N NM_002860 NP_002851 P54886 P5CS_HUMAN Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 670 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) AATTCCAGGTCCCCATACTCA 0.498000 172 9 0 0 0.008291 0 0 TRPV2 51393 broad.mit.edu 37 17 16340158 16340158 + Silent SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:16340158C>A uc002gpy.3 + 14 2649 c.2250C>A c.(2248-2250)gcC>gcA p.A750A TRPV2_uc002gpz.3_Silent_p.A320A|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA. 750 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGGATGGTGCCTCTGAGGAAA 0.552000 31 28 2.49534e-26 3.46723e-26 0.002096 1 0 HRH3 11255 broad.mit.edu 37 20 60791352 60791352 + Missense_Mutation SNP G C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:60791352G>C uc002yci.3 - 2 1345 c.1048C>G c.(1048-1050)Ctg>Gtg p.L350V HRH3_uc002ycf.2_Missense_Mutation_p.L350V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN Homo sapiens histamine receptor H3 (HRH3), mRNA. 350 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TCCCGAGACAGCCGAAAGCGC 0.642000 9 7 0 0 0.001984 0 0 SLC5A3 6526 broad.mit.edu 37 21 35469535 35469535 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:35469535G>A uc021wir.1 + 0 2038 c.2038G>A c.(2038-2040)Gag>Aag p.E680K SLC5A3_uc002yto.3_Missense_Mutation_p.E680K|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 680 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CCTGATGGAAGAGGAGGCTGT 0.413000 234 234 0 0 0.003610 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626282 140626282 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140626282G>A uc003lje.3 + 0 1136 c.1136G>A c.(1135-1137)gGa>gAa p.G379E NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 379 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGGAAAATGGAAAAATGATT 0.438000 17 10 0 0 0.008291 0 0 TACC2 10579 broad.mit.edu 37 10 123845920 123845921 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:123845920_123845921GG>AA uc001lfv.3 + 3 4265_4266 c.3905_3906GG>AA c.(3904-3906)ggg>gAA p.G1302E TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G1302E|TACC2_uc010qtv.2_Missense_Mutation_p.G1302E NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1302 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCTGCAGGTGGGGAAATCCCTG 0.604000 9 6 0 0 0.004672 0 0 MYT1L 23040 broad.mit.edu 37 2 1983500 1983500 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:1983500A>G uc002qxe.3 - 5 877 c.50T>C c.(49-51)gTt>gCt p.V17A MYT1L_uc002qxd.3_Missense_Mutation_p.V17A|MYT1L_uc002qxf.1_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 17 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G16G(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATACCTCGAACCCCTTTGGA 0.592000 7 5 0 0 0.000602 0 0 DNAH3 55567 broad.mit.edu 37 16 21098222 21098222 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:21098222G>A uc010vbe.2 - 18 2825 c.2825C>T c.(2824-2826)cCc>cTc p.P942L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 942 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACTGAGGATGGGAATGTACTG 0.512000 160 41 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13752267 13752267 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:13752267G>A uc003jfd.2 - 63 11046 c.11004C>T c.(11002-11004)ttC>ttT p.F3668F DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3668 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGTTTTAATGAAGTTTCTTT 0.408000 Kartagener syndrome 18 30 0 0 0.002445 0 0 GTPBP5 26164 broad.mit.edu 37 20 60772927 60772927 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:60772927C>T uc002yce.4 + 3 410 c.372C>T c.(370-372)tcC>tcT p.S124S GTPBP5_uc011aaf.2_Intron|GTPBP5_uc011aab.2_5'UTR|GTPBP5_uc011aac.2_5'UTR|GTPBP5_uc011aad.2_Intron|GTPBP5_uc011aae.2_Intron NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA. 124 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2) 15 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) AAGTCAAGTCCCTGTCGTCGG 0.527000 37 22 0 0 0.003330 0 0 CD19 930 broad.mit.edu 37 16 28948809 28948809 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:28948809C>T uc010byo.2 + 9 1399 c.1337C>T c.(1336-1338)cCc>cTc p.P446L NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P446L NM_001178098 NP_001171569 P15391 CD19_HUMAN Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA. 446 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GAGGATGAGCCCCTGGGTCCT 0.607000 35 28 0 0 0.001786 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159652 18159652 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:18159652G>A uc021qek.1 + 0 903 c.903G>A c.(901-903)gtG>gtA p.V301V MRGPRX3_uc001mnu.3_Silent_p.V301V NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA. 301 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CGCCTGAGGTGGATGAAGGTG 0.552000 53 12 0 0 0.001368 0 0 PCK1 5105 broad.mit.edu 37 20 56137213 56137213 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:56137213C>T uc002xyn.4 + 2 474 c.311C>T c.(310-312)cCc>cTc p.P104L PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 104 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GACACAGTGCCCATCCCCAAA 0.542000 23 23 0 0 0.002299 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925581 54925581 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:54925581G>A uc001sgc.4 + 24 2832 c.2753G>A c.(2752-2754)aGg>aAg p.R918K NCKAP1L_uc010sox.2_Missense_Mutation_p.R460K|NCKAP1L_uc010soy.2_Missense_Mutation_p.R868K NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 918 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 CTCAGTTTCAGGGCCATGGCC 0.483000 24 12 0 0 0.002450 0 0 POF1B 79983 broad.mit.edu 37 X 84606427 84606427 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:84606427G>A uc004eer.2 - 4 615 c.469C>T c.(469-471)Cat>Tat p.H157Y POF1B_uc004ees.3_Missense_Mutation_p.H157Y NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 157 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GGGAAGAAATGGCTTCCTCTT 0.289000 20 19 0 0 0.008871 0 0 DNAH17 8632 broad.mit.edu 37 17 76455235 76455235 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:76455235C>T uc010dhp.2 - 60 9834 c.9709G>A c.(9709-9711)Gcc>Acc p.A3237T DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. p.C3237Y(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCGGCGGCGGCCGTGGACTTG 0.652000 224 47 0 0 0.003610 0 0 A4GALT 53947 broad.mit.edu 37 22 43089082 43089082 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:43089082C>T uc003bdb.3 - 2 1137 c.876G>A c.(874-876)tgG>tgA p.W292* A4GALT_uc021wqo.1_Nonsense_Mutation_p.W292*|A4GALT_uc021wqp.1_Nonsense_Mutation_p.W292*|A4GALT_uc010gzd.3_Nonsense_Mutation_p.W292*|A4GALT_uc021wqq.1_Nonsense_Mutation_p.W292* NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA. 292 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 AGTACTTCTTCCAGTCCTGCC 0.647000 11 5 0 0 0.000602 0 0 ODZ1 10178 broad.mit.edu 37 X 123630927 123630927 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:123630927C>T uc010nqy.3 - 19 3698 c.3634G>A c.(3634-3636)Gac>Aac p.D1212N ODZ1_uc011muj.2_Missense_Mutation_p.D1211N|ODZ1_uc004euj.3_Missense_Mutation_p.D1212N NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1212 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 AAATTGAAGTCGCCAACATAC 0.443000 17 22 0 0 0.002780 0 0 HHIPL1 84439 broad.mit.edu 37 14 100126723 100126723 + Silent SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:100126723T>A uc010avs.3 + 4 1547 c.1482T>A c.(1480-1482)atT>atA p.I494I HHIPL1_uc001ygl.1_Silent_p.I494I NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA. 494 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GCCTCTACATTTTTGGGGATT 0.602000 30 34 0 0 0.008740 0 0 MAML2 84441 broad.mit.edu 37 11 95826426 95826426 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:95826426G>A uc001pfw.1 - 1 2054 c.769C>T c.(769-771)Ctg>Ttg p.L257L NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA. 257 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) ATGTTAAACAGGCCATTGCCA 0.478000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 29 11 0 0 0.008291 0 0 GDA 9615 broad.mit.edu 37 9 74838040 74838040 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:74838040C>A uc004air.3 + 6 820 c.611C>A c.(610-612)tCt>tAt p.S204Y GDA_uc011lse.2_Missense_Mutation_p.S130Y|GDA_uc004aiq.3_Missense_Mutation_p.S204Y|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.S130Y|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Missense_Mutation_p.S130Y NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 204 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CTCCAGTATTCTAGAGTGAAG 0.368000 47 28 4.40665e-25 6.12011e-25 0.001786 1 0 SPPL2C 162540 broad.mit.edu 37 17 43923981 43923981 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:43923981G>A uc010wka.2 + 0 1726 c.1709G>A c.(1708-1710)gGg>gAg p.G570E MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 570 integral to membrane aspartic-type endopeptidase activity CGAGGAGCAGGGGACTTAGAC 0.592000 18 24 0 0 0.002780 0 0 HENMT1 113802 broad.mit.edu 37 1 109191228 109191228 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:109191228G>A uc001dvt.4 - 7 1380 c.1142C>T c.(1141-1143)gCt>gTt p.A381V HENMT1_uc001dvu.4_Missense_Mutation_p.A381V|HENMT1_uc009wer.3_3'UTR NM_001102592 NP_653185 Q5T8I9 HENMT_HUMAN Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA. 381 gene silencing by RNA|piRNA metabolic process P granule O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 ACGCAGGTCAGCCACCACTGC 0.413000 5 11 0 0 0.000978 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179306098 179306098 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:179306098G>A uc003mlh.3 - 8 1551 c.1516C>T c.(1516-1518)Ctg>Ttg p.L506L TBC1D9B_uc003mli.3_Silent_p.L506L|TBC1D9B_uc003mlj.3_Silent_p.L506L NM_198868 NP_942568 Q66K14 TBC9B_HUMAN Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA. 506 integral to membrane|intracellular Rab GTPase activator activity|calcium ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATACCCTTCAGGACCAGTGCC 0.627000 11 12 0 0 0.000978 0 0 INO80 54617 broad.mit.edu 37 15 41348837 41348837 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:41348837G>A uc001zni.3 - 16 2266 c.2053C>T c.(2053-2055)Cag>Tag p.Q685* INO80_uc010ucu.2_Non-coding_Transcript NM_017553 NP_060023 Q9ULG1 INO80_HUMAN Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA. 685 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly Ino80 complex|microtubule ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATGGTGTTCTGAATTGGGGTC 0.423000 113 87 0 0 0.003610 0 0 C6orf72 116254 broad.mit.edu 37 6 149901049 149901049 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:149901049C>T uc003qmq.1 + 4 532 c.509C>T c.(508-510)cCt>cTt p.P170L C6orf72_uc010kie.1_Missense_Mutation_p.P50L NM_138785 NP_620140 Q9NU53 CF072_HUMAN Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA. 170 integral to membrane endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) TATACCCTCCCTTTGGAAGAA 0.348000 48 50 0 0 0.003610 0 0 RASA2 5922 broad.mit.edu 37 3 141328325 141328326 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:141328325_141328326CC>TT uc010huq.1 + 22 2301_2302 c.2301_2302CC>TT c.(2299-2304)tccctt>tcTTtt p.L768F RASA2_uc003etz.1_Missense_Mutation_p.L764F|RASA2_uc003eua.1_Missense_Mutation_p.L765F NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 764 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 GAATTTATTCCCTTTTTACCCT 0.292000 65 15 0 0 0.004672 0 0 LOC729862 729862 broad.mit.edu 37 5 28927058 28927058 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:28927058G>A uc003jgz.1 + 0 c.82G>A Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. GTCCTGCAAGGATATTGTGGC 0.562000 6 7 0 0 0.001984 0 0 PHKA1 5255 broad.mit.edu 37 X 71925051 71925051 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:71925051C>T uc004eax.4 - 2 582 c.281G>A c.(280-282)aGa>aAa p.R94K PHKA1_uc004eay.4_Missense_Mutation_p.R94K|PHKA1_uc011mqi.2_Missense_Mutation_p.R94K NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 94 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CCATACCTGTCTGATCATGCA 0.363000 16 20 0 0 0.002780 0 0 SEZ6L 23544 broad.mit.edu 37 22 26743840 26743840 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:26743840G>A uc003acb.3 + 10 2564 c.2368G>A c.(2368-2370)Gac>Aac p.D790N SEZ6L_uc003acd.3_Missense_Mutation_p.D790N|SEZ6L_uc011akd.2_Missense_Mutation_p.D790N|SEZ6L_uc003ace.3_Missense_Mutation_p.D790N|SEZ6L_uc011akc.2_Missense_Mutation_p.D790N|SEZ6L_uc003acc.3_Missense_Mutation_p.D790N|SEZ6L_uc003acf.1_Missense_Mutation_p.D563N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D563N|SEZ6L_uc011ake.2_Non-coding_Transcript NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 790 Sushi 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGCCAGTGGGACCTCAGCTG 0.562000 46 18 0 0 0.002780 0 0 HECW2 57520 broad.mit.edu 37 2 197185126 197185126 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:197185126G>A uc002utm.1 - 7 1105 c.922C>T c.(922-924)Cca>Tca p.P308S HECW2_uc002utl.1_Intron NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 308 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TGGTCAGCTGGGAGCCTTCTG 0.453000 5 11 0 0 0.001368 0 0 OR56A1 120796 broad.mit.edu 37 11 6048031 6048031 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:6048031G>A uc010qzw.2 - 0 941 c.904C>T c.(904-906)Cgg>Tgg p.R302W NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTTGGTCCGAACCCCATAC 0.448000 34 30 0 0 0.001786 0 0 HSPA12B 116835 broad.mit.edu 37 20 3725567 3725568 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:3725567_3725568CC>TT uc002wjd.3 + 4 427_428 c.285_286CC>TT c.(283-288)gacccg>gaTTcg p.P96S HSPA12B_uc010zqj.2_5'UTR|HSPA12B_uc010zqi.2_Missense_Mutation_p.P96S|HSPA12B_uc002wje.3_Missense_Mutation_p.P9S NM_052970 NP_443202 Q96MM6 HS12B_HUMAN Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA. 96 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 AGGGCGGAGACCCGGGCGTGGC 0.624000 28 13 0 0 0.004672 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29487477 29487477 + Silent SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:29487477A>T uc002kxc.4 - 8 1699 c.1335T>A c.(1333-1335)acT>acA p.T445T TRAPPC8_uc002kxb.4_Silent_p.T391T|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Silent_p.T445T|TRAPPC8_uc002kxe.2_Silent_p.T445T NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA. 445 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTTTCTTTGCAGTATGATAGC 0.378000 31 10 0 0 0.008291 0 0 C1orf127 148345 broad.mit.edu 37 1 11008258 11008258 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:11008258G>A uc010oao.2 - 11 1934 c.1934C>T c.(1933-1935)tCc>tTc p.S645F C1orf127_uc001ars.2_Missense_Mutation_p.S480F|C1orf127_uc001arr.2_Missense_Mutation_p.S488F NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 496 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TGGTTCTGAGGATGAAAGGTC 0.647000 16 12 0 0 0.001855 0 0 GIGYF2 26058 broad.mit.edu 37 2 233660862 233660862 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:233660862G>A uc002vtj.4 + 15 1900 c.1633G>A c.(1633-1635)Gtg>Atg p.V545M GIGYF2_uc010zmj.1_Missense_Mutation_p.V524M|GIGYF2_uc002vtg.2_Missense_Mutation_p.V518M|GIGYF2_uc002vti.4_Missense_Mutation_p.V524M|GIGYF2_uc002vtk.4_Missense_Mutation_p.V524M|GIGYF2_uc002vth.4_Missense_Mutation_p.V518M|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.V355M NM_001103147 NP_001096617 Q6Y7W6 PERQ2_HUMAN Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA. 524 GYF. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AGCTAAAGGAGTGTCGATTCC 0.408000 44 10 0 0 0.000978 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203729 5203729 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:5203729C>T uc009xhz.2 - 4 c.462_splice c.e4-1 Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA. cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TCAGGAAGAACCCTGGAAACC 0.393000 35 21 0 0 0.003330 0 0 LY6G6F 259215 broad.mit.edu 37 6 31675732 31675732 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:31675732C>T uc003nwb.1 + 2 467 c.467C>T c.(466-468)tCt>tTt p.S156F ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.S156F NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA. 156 integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 12 CGCATGGACTCTGTGACCTGG 0.622000 226 70 0 0 0.003610 0 0 GZMA 3001 broad.mit.edu 37 5 54405901 54405901 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:54405901C>T uc003jpm.3 + 4 717 c.680C>T c.(679-681)tCc>tTc p.S227F NM_006144 NP_006135 P12544 GRAA_HUMAN Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA. 227 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGGGTCACTTCCTTTGGCCTT 0.483000 37 16 0 0 0.004007 0 0 CDH18 1016 broad.mit.edu 37 5 19483414 19483414 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:19483414G>A uc003jgd.3 - 11 2412 c.1878C>T c.(1876-1878)ctC>ctT p.L626L CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Silent_p.L626L|CDH18_uc021xwu.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 626 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACTTACCCAGGAGAATGAGAA 0.463000 21 30 0 0 0.002096 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137106 126137106 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:126137106G>A uc001uhe.1 + 7 2027 c.2019G>A c.(2017-2019)caG>caA p.Q673Q TMEM132B_uc001uhf.1_Silent_p.Q185Q NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 673 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCTCCCTGCAGCCACACCGAG 0.607000 25 21 0 0 0.002780 0 0 TTC7A 57217 broad.mit.edu 37 2 47206012 47206012 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:47206012C>T uc010fbb.3 + 4 1098 c.730C>T c.(730-732)Ctc>Ttc p.L244F TTC7A_uc002rvm.3_Missense_Mutation_p.L210F|TTC7A_uc002rvn.1_Missense_Mutation_p.L125F|TTC7A_uc002rvo.3_Missense_Mutation_p.L244F|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.L125F|TTC7A_uc002rvq.3_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 244 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GGAAGCTGCCCTCCAGAGCGC 0.537000 19 9 0 0 0.001855 0 0 BAGE 574 broad.mit.edu 37 21 11097569 11097569 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:11097569C>T uc002yiu.1 - 1 293 c.93G>A c.(91-93)ttG>ttA p.L31L BAGE_uc002yit.1_Silent_p.L31L|BAGE_uc002yiv.1_Silent_p.L31L|BAGE_uc002yix.2_Non-coding_Transcript NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. 31 extracellular region 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) CTTcaggctccaacctccagc 0.542000 46 6 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179456883 179456883 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179456883C>A uc021vsy.1 - 250 52269 c.52044G>T c.(52042-52044)agG>agT p.R17348S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11043S|TTN_uc021vta.1_Missense_Mutation_p.R10976S|TTN_uc021vtb.1_Missense_Mutation_p.R10851S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18275 Fibronectin type-III 26. 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) CAACATCTCTCCTCTCAACCA 0.438000 16 9 1.12685e-05 1.54717e-05 0.004482 1 0 GPS1 2873 broad.mit.edu 37 17 80013902 80013902 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:80013902T>C uc002kdk.1 + 7 1400 c.980T>C c.(979-981)aTc>aCc p.I327T GPS1_uc002kdl.1_Missense_Mutation_p.I291T|GPS1_uc010dij.1_Missense_Mutation_p.I326T|GPS1_uc002kdm.1_Missense_Mutation_p.I271T|GPS1_uc002kdn.1_Missense_Mutation_p.I287T|GPS1_uc010wvh.1_Missense_Mutation_p.I283T NM_212492 NP_997657 Q13098 CSN1_HUMAN Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA. 291 PCI. JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AACGTGGCCATCTACGGTGGC 0.662000 12 7 0 0 0.003080 0 0 COL17A1 1308 broad.mit.edu 37 10 105824312 105824312 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:105824312G>A uc001kxr.3 - 9 819 c.650C>T c.(649-651)cCc>cTc p.P217L COL17A1_uc010qqv.1_Missense_Mutation_p.P201L|COL17A1_uc009xxp.1_Missense_Mutation_p.P217L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 217 Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CACATGGGAGGGAAGGTTGGC 0.572000 6 7 0 0 0.001984 0 0 FAM135B 51059 broad.mit.edu 37 8 139165086 139165086 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:139165086C>T uc003yuy.3 - 12 1803 c.1632G>A c.(1630-1632)gaG>gaA p.E544E FAM135B_uc003yux.3_Silent_p.E445E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.E106E|FAM135B_uc003yvb.3_Silent_p.E106E NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 544 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTGTCCATCCTCTGGACCTG 0.512000 HNSCC(54;0.14) 26 27 0 0 0.005443 0 0 NPAS4 266743 broad.mit.edu 37 11 66189691 66189691 + Silent SNP G A A rs147825645 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:66189691G>A uc001ohx.1 + 1 452 c.276G>A c.(274-276)ggG>ggA p.G92G NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 92 PAS 1. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CAGCCGAGGGGAAATTGCTCT 0.602000 45 10 0 0 0.008291 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351178 134351178 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:134351178C>T uc004can.4 + 14 3717 c.3662C>T c.(3661-3663)tCc>tTc p.S1221F PRRC2B_uc010mzj.1_Missense_Mutation_p.S804F|PRRC2B_uc004cao.4_Missense_Mutation_p.S579F NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 1221 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 ACCTTCGTCTCCAAAGAGTCA 0.617000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 8 0 0 0.004482 0 0 ARNTL2 56938 broad.mit.edu 37 12 27521335 27521335 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:27521335G>A uc001rht.2 + 1 391 c.172G>A c.(172-174)Gac>Aac p.D58N ARNTL2_uc001rhu.2_Missense_Mutation_p.D58N|ARNTL2_uc001rhv.2_Missense_Mutation_p.D58N|ARNTL2_uc001rhw.3_Missense_Mutation_p.D69N|ARNTL2_uc010sjp.2_Missense_Mutation_p.D69N|ARNTL2_uc009zji.2_Missense_Mutation_p.D58N NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA. 58 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) AAGTGATTCAGACCCATCCCA 0.433000 34 32 0 0 0.003271 0 0 FCGBP 8857 broad.mit.edu 37 19 40363276 40363276 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:40363276C>T uc002omp.4 - 31 14802 c.14794G>A c.(14794-14796)Gag>Aag p.E4932K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4932 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACAGCCTCGCCGTCCACG 0.652000 5 4 0 0 0.000248 0 0 THSD7B 80731 broad.mit.edu 37 2 137872762 137872762 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:137872762A>G uc002tva.1 + 3 1175 c.1175A>G c.(1174-1176)cAc>cGc p.H392R THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.H282R NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.G392V(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAGGATCCCCACTGGCATGTG 0.547000 23 4 0 0 0.000602 0 0 LLGL2 3993 broad.mit.edu 37 17 73559887 73559887 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:73559887G>A uc002joh.3 + 9 1035 c.881_splice c.e9+1 p.G294_splice LLGL2_uc002jog.1_Splice_Site_p.G294_splice|LLGL2_uc010dgf.1_Splice_Site_p.G294_splice|LLGL2_uc002joi.3_Splice_Site_p.G294_splice|LLGL2_uc010dgg.2_Splice_Site_p.G294_splice|LLGL2_uc002joj.3_Splice_Site_p.G283_splice|LLGL2_uc010wsd.2_Splice_Site|AF289551_uc002jok.3_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 294 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ACTAGGCAGGGGTAGGTATCC 0.532000 62 16 0 0 0.004007 0 0 PLCB4 5332 broad.mit.edu 37 20 9365010 9365010 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:9365010G>A uc021wam.1 + 10 1031 c.1016G>A c.(1015-1017)gGg>gAg p.G339E PLCB4_uc010gbw.1_Missense_Mutation_p.G339E|PLCB4_uc010gbx.3_Missense_Mutation_p.G339E|PLCB4_uc021wal.1_Missense_Mutation_p.G339E|PLCB4_uc002wnh.3_Missense_Mutation_p.G186E NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 339 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAGTTCGGCGGGAAGTCTTCG 0.453000 48 17 0 0 0.008871 0 0 ATP2C2 9914 broad.mit.edu 37 16 84482226 84482226 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:84482226C>T uc010chj.3 + 16 1680 c.1591C>T c.(1591-1593)Ccg>Tcg p.P531S ATP2C2_uc002fhx.3_Missense_Mutation_p.P531S|ATP2C2_uc002fhy.3_Missense_Mutation_p.P548S|ATP2C2_uc002fhz.3_Missense_Mutation_p.P380S NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 531 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CATCCCCCTGCCGCTGACGCC 0.572000 35 23 0 0 0.003330 0 0 RGPD3 653489 broad.mit.edu 37 2 107050824 107050824 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:107050824G>A uc010ywi.1 - 14 2122 c.2065C>T c.(2065-2067)Cac>Tac p.H689Y NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 689 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCCTTCCTGTGAAAAATCTAT 0.383000 36 51 0 0 0.003610 0 0 SPTA1 6708 broad.mit.edu 37 1 158614043 158614043 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:158614043C>T uc001fst.1 - 30 4537 c.4338_splice c.e30+1 p.Q1446_splice NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1446 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATTATTACCTGGGCAGTGA 0.348000 21 24 0 0 0.003954 0 0 ICA1L 130026 broad.mit.edu 37 2 203693696 203693696 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:203693696G>A uc002uzh.1 - 2 201 c.37C>T c.(37-39)Cag>Tag p.Q13* ICA1L_uc002uzi.1_Nonsense_Mutation_p.Q13*|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Nonsense_Mutation_p.Q13*|ICA1L_uc002uzk.1_Nonsense_Mutation_p.Q13* NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA. 13 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACTACTGACTGATTATCTTCT 0.378000 124 220 0 0 0.003610 0 0 NACA2 342538 broad.mit.edu 37 17 59667908 59667908 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:59667908C>T uc002izj.2 - 0 656 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_199290 NP_954984 Q9H009 NACA2_HUMAN Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA. 212 UBA. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) ACTGTTAATTCCATAATCGCA 0.363000 184 38 0 0 0.002222 0 0 OR6C65 403282 broad.mit.edu 37 12 55795197 55795197 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:55795197G>A uc010spl.2 + 0 885 c.885G>A c.(883-885)gtG>gtA p.V295V NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 ACCAGCAGGTGAAACAGGCCC 0.358000 25 13 0 0 0.001855 0 0 MADCAM1 8174 broad.mit.edu 37 19 498503 498503 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:498503G>A uc002los.3 + 2 355 c.345G>A c.(343-345)ccG>ccA p.P115P MADCAM1_uc002lot.3_Silent_p.P115P|MADCAM1_uc010drq.3_Silent_p.P20P NM_130760 NP_570116 Q13477 MADCA_HUMAN Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA. 115 Ig-like 2. cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCTTCCCGGACCAGCTGA 0.706000 13 10 0 0 0.001368 0 0 KRIT1 889 broad.mit.edu 37 7 91852253 91852253 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:91852253G>A uc003ulr.1 - 12 2186 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C KRIT1_uc010lev.1_Missense_Mutation_p.R189C|KRIT1_uc003ulq.1_Missense_Mutation_p.R432C|KRIT1_uc003uls.1_Missense_Mutation_p.R432C|KRIT1_uc003ult.1_Missense_Mutation_p.R384C|KRIT1_uc003ulu.1_Missense_Mutation_p.R432C|KRIT1_uc003ulv.1_Missense_Mutation_p.R432C NM_004912 NP_919438 O00522 KRIT1_HUMAN Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA. 432 FERM. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCAACAGAACGATATGACCCA 0.338000 21 18 0 0 0.002299 0 0 MYLK3 91807 broad.mit.edu 37 16 46763013 46763013 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:46763013G>A uc002eei.4 - 6 1811 c.1695C>T c.(1693-1695)aaC>aaT p.N565N MYLK3_uc010vge.2_Silent_p.N224N|MYLK3_uc002eej.1_Silent_p.N224N NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 565 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGCTGAGCTGGTTCATGATGT 0.552000 42 33 0 0 0.004289 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604120 111604120 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:111604120G>A uc010hqa.3 + 1 1607 c.1196G>A c.(1195-1197)aGa>aAa p.R399K PHLDB2_uc003dyc.3_Missense_Mutation_p.R426K|PHLDB2_uc003dyd.3_Missense_Mutation_p.R399K|PHLDB2_uc003dyg.3_Missense_Mutation_p.R399K|PHLDB2_uc003dyh.3_Missense_Mutation_p.R399K|PHLDB2_uc003dye.4_Missense_Mutation_p.R399K|PHLDB2_uc003dyf.4_Missense_Mutation_p.R399K NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 399 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAAAGCCTCAGACAGGCCTCA 0.517000 40 39 0 0 0.006230 0 0 TTN 7273 broad.mit.edu 37 2 179592543 179592543 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:179592543C>T uc021vsy.1 - 64 16255 c.16030G>A c.(16030-16032)Gat>Aat p.D5344N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2005N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6271 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D5344H(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGTAGAATCAGGTATGGCT 0.348000 45 14 0 0 0.002450 0 0 AXL 558 broad.mit.edu 37 19 41765666 41765667 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:41765666_41765667CC>TT uc010ehj.3 + 19 2732_2733 c.2542_2543CC>TT c.(2542-2544)cct>TTt p.P848F HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Missense_Mutation_p.P839F|HNRNPUL1_uc010ehl.1_5'Flank NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 848 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CCAGCCAGACCCTAAGGATTCC 0.599000 8 26 0 0 0.004672 0 0 C14orf39 317761 broad.mit.edu 37 14 60928270 60928270 + Silent SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:60928270T>G uc001xez.4 - 11 1124 c.1014A>C c.(1012-1014)tcA>tcC p.S338S C14orf39_uc010apo.3_Silent_p.S49S NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 338 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCGTAATATGTGAACATTTTG 0.279000 27 17 0 0 0.007413 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:61161357T>G uc021qkf.1 + 3 409 c.137_splice c.e3-1 p.G46_splice TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site NM_001173991 NP_001167462 Q9P0N5 TM216_HUMAN Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA. 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 24 8 0 0 0.001523 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18829843 18829843 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:18829843C>T uc003zne.4 + 22 4269 c.4117C>T c.(4117-4119)Ccc>Tcc p.P1373S ADAMTSL1_uc003znf.4_Missense_Mutation_p.P74S NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 1373 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TCTCACAGATCCCCCCCAAGT 0.567000 3 23 0 0 0.007291 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672558 44672558 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:44672558C>T uc010zxl.1 + 10 1525 c.1449C>T c.(1447-1449)gtC>gtT p.V483V SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V460V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 483 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTGAGGGGGTCGTCCTGCGGG 0.557000 26 34 0 0 0.005524 0 0 LACE1 246269 broad.mit.edu 37 6 108676932 108676932 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:108676932C>T uc003psj.3 + 3 676 c.490C>T c.(490-492)Cat>Tat p.H164Y NM_145315 NP_660358 Q8WV93 LACE1_HUMAN Homo sapiens lactation elevated 1 (LACE1), mRNA. 164 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) GGTTCATTTTCATGGTTTCAT 0.318000 31 10 0 0 0.008291 0 0 MARK2 2011 broad.mit.edu 37 11 63667508 63667508 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:63667508G>A uc001nxw.3 + 7 1273 c.694G>A c.(694-696)Gat>Aat p.D232N MARK2_uc001nxv.4_Missense_Mutation_p.D232N|MARK2_uc001nxx.3_Missense_Mutation_p.D232N|MARK2_uc001nxy.3_Missense_Mutation_p.D232N|MARK2_uc001nxz.4_Missense_Mutation_p.D199N|MARK2_uc009yoy.3_Missense_Mutation_p.D199N NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA. 232 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 ACCCGAGGTGGATGTGTGGAG 0.498000 61 40 0 0 0.006230 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432718 140432718 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140432718G>A uc003lik.1 + 0 1740 c.1663G>A c.(1663-1665)Gac>Aac p.D555N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 555 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTCCTAGATGACAATGACAA 0.493000 33 15 0 0 0.002450 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280645 105280645 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:105280645G>A uc010npd.3 - 0 640 c.405C>T c.(403-405)ttC>ttT p.F135F SERPINA7_uc004eme.2_Silent_p.F135F|SERPINA7_uc010npe.2_Silent_p.F135F NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 135 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GCTTGCCAATGAAGAGGGCAT 0.438000 5 70 0 0 0.003610 0 0 LOC442132 442132 broad.mit.edu 37 5 7303927 7303927 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:7303927G>A uc003jdy.2 - 4 c.427C>T Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA. CGTATGGTATGATCCTGGGCC 0.493000 10 5 0 0 0.000602 0 0 TAAR9 134860 broad.mit.edu 37 6 132859486 132859486 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:132859486G>A uc011eci.2 + 0 60 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA. 20 plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GAACGTGAACGAATCCTGCAT 0.458000 14 12 0 0 0.004007 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344403 38344403 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:38344403C>T uc010qev.2 + 3 1473 c.1369C>T c.(1369-1371)Cgt>Tgt p.R457C ZNF33A_uc001izg.3_Missense_Mutation_p.R451C|ZNF33A_uc001izh.3_Missense_Mutation_p.R450C|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.R451C NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 450 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 AAAATCCTTCCGTGTGACTTC 0.413000 30 17 0 0 0.001523 0 0 COL8A1 1295 broad.mit.edu 37 3 99513179 99513179 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:99513179T>A uc003dti.1 + 2 565 c.437T>A c.(436-438)aTt>aAt p.I146N MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.I145N|COL8A1_uc003dth.1_Missense_Mutation_p.I145N NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 145 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ATACCTGGAATTAAAGGAAAA 0.582000 10 8 0 0 0.003080 0 0 TCL1A 8115 broad.mit.edu 37 14 96180341 96180341 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:96180341C>T uc001yfc.4 - 0 193 c.63G>A c.(61-63)tgG>tgA p.W21* BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Nonsense_Mutation_p.W21* NM_001098725 NP_068801 P56279 TCL1A_HUMAN Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA. 21 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CGAACTTCTCCCAGGCCCACA 0.657000 T TRA@ T-CLL 50 29 0 0 0.001786 0 0 POTEF 728378 broad.mit.edu 37 2 130832640 130832640 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:130832640G>A uc010fmh.2 - 16 2805 c.2405C>T c.(2404-2406)cCc>cTc p.P802L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 802 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGCAGGACGGGGTGCTCCTC 0.582000 46 19 0 0 0.001523 0 0 FGA 2243 broad.mit.edu 37 4 155507389 155507389 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:155507389G>A uc003iod.1 - 4 1250 c.1192C>T c.(1192-1194)Cca>Tca p.P398S FGA_uc003ioe.1_Missense_Mutation_p.P398S|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 398 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCAGAGCCTGGGCTATCTGGC 0.532000 67 43 0 0 0.008740 0 0 GPR112 139378 broad.mit.edu 37 X 135432542 135432542 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:135432542C>T uc004ezu.1 + 5 6968 c.6677C>T c.(6676-6678)tCc>tTc p.S2226F GPR112_uc010nsb.1_Missense_Mutation_p.S2021F|GPR112_uc010nsc.1_Missense_Mutation_p.S1993F NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2226 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) TCCACACCTTCCTTTCTATCT 0.463000 1 46 0 0 0.003610 0 0 ZDHHC14 79683 broad.mit.edu 37 6 157963677 157963677 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:157963677C>T uc003qqt.3 + 1 803 c.306C>T c.(304-306)ttC>ttT p.F102F ZDHHC14_uc003qqs.3_Silent_p.F102F|ZDHHC14_uc010kjm.1_5'UTR NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA. 102 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GCATCCTGTTCTTCTTTGTGA 0.602000 47 16 0 0 0.008871 0 0 PITRM1 10531 broad.mit.edu 37 10 3180261 3180261 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:3180261G>A uc009xhv.2 - 26 3148 c.3079C>T c.(3079-3081)Ccg>Tcg p.P1027S PITRM1_uc001igr.2_3'UTR|PITRM1_uc001igt.2_Missense_Mutation_p.P1026S|PITRM1_uc010qah.2_Missense_Mutation_p.P928S NM_001242307 NP_001229236 E7ES23 E7ES23_HUMAN Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 928 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 GCAATTTTCGGGTTCTCGGGT 0.587000 3 3 0 0 0.004672 0 0 EIF2C1 26523 broad.mit.edu 37 1 36379561 36379561 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:36379561C>T uc001bzl.3 + 12 1914 c.1701C>T c.(1699-1701)gtC>gtT p.V567V EIF2C1_uc001bzk.3_Silent_p.V492V|EIF2C1_uc009vuy.3_Non-coding_Transcript NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 567 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGATCAATGTCAAACTTGGTG 0.493000 49 12 0 0 0.000978 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010672 173010672 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:173010672C>T uc001giu.2 - 2 436 c.435G>A c.(433-435)atG>atA p.M145I NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA. 145 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 GAGTTTGTATCATGTCTTTGT 0.373000 65 17 0 0 0.004990 0 0 LFNG 3955 broad.mit.edu 37 7 2565153 2565154 + Silent DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:2565153_2565154CC>TT uc003smf.3 + 3 704_705 c.687_688CC>TT c.(685-690)agcctg>agTTtg p.229_230SL>SL LFNG_uc021zyw.1_Silent_p.158_159SL>SL|LFNG_uc021zyx.1_Silent_p.100_101SL>SL|LFNG_uc003smg.3_Silent_p.229_230SL>SL|MIR4648_uc021zyy.1_5'Flank NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. 229 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) GCAAGCCCAGCCTGGACAGGCC 0.688000 7 5 0 0 0.004672 0 0 MYH1 4619 broad.mit.edu 37 17 10395837 10395837 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:10395837C>T uc002gmo.3 - 39 5810 c.5716G>A c.(5716-5718)Gag>Aag p.E1906K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1906 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCCTCCAGCTCGTGCTGGATC 0.483000 72 24 0 0 0.004656 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876070 20876070 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:20876070C>T uc010sii.2 + 9 1423 c.1068C>T c.(1066-1068)ttC>ttT p.F356F SLCO1C1_uc010sij.2_Silent_p.F307F|SLCO1C1_uc009zip.3_Silent_p.F190F|SLCO1C1_uc001rei.3_Silent_p.F356F|SLCO1C1_uc010sik.2_Silent_p.F238F NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 356 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.Y355D(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CAGTATACTTCCTATATTTAT 0.373000 42 30 0 0 0.002836 0 0 SBNO1 55206 broad.mit.edu 37 12 123810811 123810811 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:123810811G>A uc010tap.2 - 12 1763 c.1763C>T c.(1762-1764)tCc>tTc p.S588F SBNO1_uc010tao.2_Missense_Mutation_p.S587F|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.S587F|SBNO1_uc001uet.2_Missense_Mutation_p.S588F|SBNO1_uc001uev.2_Missense_Mutation_p.S586F|SBNO1_uc009zxy.1_Missense_Mutation_p.S553F NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 588 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ACCCCACATGGACTTCTTCAT 0.453000 137 34 0 0 0.004289 0 0 COL5A3 50509 broad.mit.edu 37 19 10081684 10081685 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:10081684_10081685CC>TT uc002mmq.1 - 52 3934_3935 c.3848_3849GG>AA c.(3847-3849)ggg>gAA p.G1283E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1283 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTCCCTTCTCCCCTGGGGAACC 0.584000 34 10 0 0 0.004672 0 0 ATP13A3 79572 broad.mit.edu 37 3 194150496 194150496 + Missense_Mutation SNP G T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:194150496G>T uc003fty.4 - 25 3187 c.2785C>A c.(2785-2787)Cgt>Agt p.R929S ATP13A3_uc003ftz.1_Missense_Mutation_p.R635S NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 929 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AAAGCAGCACGGCCTTCCCTG 0.358000 30 26 7.92952e-12 1.09522e-11 0.003954 1 0 ARMC4 55130 broad.mit.edu 37 10 28228904 28228904 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:28228904C>T uc009xky.3 - 13 2117 c.2019G>A c.(2017-2019)agG>agA p.R673R ARMC4_uc010qds.2_Silent_p.R198R|ARMC4_uc010qdt.2_Silent_p.R365R|ARMC4_uc001itz.3_Silent_p.R673R NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 673 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTTCAATGATCCTTTCTGCTT 0.413000 23 21 0 0 0.004656 0 0 TPH2 121278 broad.mit.edu 37 12 72338091 72338092 + Missense_Mutation DNP GG AA AA rs146967917 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:72338091_72338092GG>AA uc009zrw.1 + 2 414_415 c.273_274GG>AA c.(271-276)atggtt>atAAtt p.91_92MV>II TPH2_uc001swy.2_Missense_Mutation_p.1_2MV>II NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 91 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GTGTCAACATGGTTCATATTGA 0.406000 12 25 0 0 0.004672 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400739 11400739 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:11400739G>A uc003gmq.3 - 1 1214 c.891C>T c.(889-891)ttC>ttT p.F297F HS3ST1_uc021xmg.1_Silent_p.F297F NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 297 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CAACAAGCTCGAAGAACTTCT 0.443000 49 48 0 0 0.003610 0 0 RFT1 91869 broad.mit.edu 37 3 53155743 53155743 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:53155743C>T uc003dgj.3 - 4 584 c.530G>A c.(529-531)tGg>tAg p.W177* NM_052859 NP_443091 Q96AA3 RFT1_HUMAN Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA. 177 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GTACAATCCCCAGTGAGGCAA 0.433000 14 11 0 0 0.000978 0 0 FAT4 79633 broad.mit.edu 37 4 126412549 126412549 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:126412549G>A uc003ifj.4 + 16 14572 c.14572G>A c.(14572-14574)Gag>Aag p.E4858K FAT4_uc011cgp.2_Missense_Mutation_p.E3099K|FAT4_uc003ifi.1_Missense_Mutation_p.E2335K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4858 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATATGACAGGGAGAAGCCAAT 0.428000 40 27 0 0 0.002445 0 0 FAM5B 57795 broad.mit.edu 37 1 177250217 177250217 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:177250217G>A uc001glf.3 + 7 2217 c.1905G>A c.(1903-1905)tgG>tgA p.W635* FAM5B_uc001glg.3_Nonsense_Mutation_p.W530* NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 635 extracellular region p.W635R(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GGAATAGGTGGAAGACTTTCT 0.498000 23 24 0 0 0.002780 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27500758 27500758 + Missense_Mutation SNP A T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:27500758A>T uc002rjl.1 + 3 668 c.250A>T c.(250-252)Ata>Tta p.I84L SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.I84L NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA. 84 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTCATGCCATACTGAGCGA 0.453000 32 17 0 0 0.004990 0 0 TFR2 7036 broad.mit.edu 37 7 100225227 100225227 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:100225227G>A uc003uvv.1 - 14 1809 c.1740C>T c.(1738-1740)gtC>gtT p.V580V TFR2_uc010lhc.1_Silent_p.V121V|TFR2_uc003uvu.1_Silent_p.V409V NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 580 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CGACGGCAGGGACTCCCACAA 0.642000 13 7 0 0 0.001984 0 0 GRIK3 2899 broad.mit.edu 37 1 37270690 37270690 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:37270690G>A uc001caz.2 - 14 2598 c.2463C>T c.(2461-2463)atC>atT p.I821I GRIK3_uc001cba.1_Silent_p.I821I NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 821 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGATGCCCCCGATCTTCTGGA 0.597000 38 20 0 0 0.008871 0 0 PLCE1 51196 broad.mit.edu 37 10 95791693 95791693 + Nonsense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:95791693T>A uc001kjk.3 + 1 1524 c.890T>A c.(889-891)tTg>tAg p.L297* PLCE1_uc010qnx.2_Nonsense_Mutation_p.L297* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 297 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAGACCTTTTTGAGCCATTTT 0.398000 58 51 0 0 0.003610 0 0 NPNT 255743 broad.mit.edu 37 4 106859556 106859556 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:106859556C>T uc011cfd.2 + 5 787 c.574C>T c.(574-576)Cct>Tct p.P192S NPNT_uc011cfc.2_Missense_Mutation_p.P179S|NPNT_uc011cfe.2_Missense_Mutation_p.P192S|NPNT_uc003hya.3_Missense_Mutation_p.P162S|NPNT_uc011cff.2_Missense_Mutation_p.P162S NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 162 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) GCAGCTGGCTCCTGATGGGAG 0.512000 29 16 0 0 0.001523 0 0 USP5 8078 broad.mit.edu 37 12 6968686 6968686 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:6968686C>T uc001qri.4 + 8 1170 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* USP5_uc001qrh.4_Nonsense_Mutation_p.Q371* NM_001098536 NP_001092006 P45974 UBP5_HUMAN Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA. 371 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 GGACCCTACCCAGGATTTCAG 0.562000 17 16 0 0 0.007413 0 0 VAC14 55697 broad.mit.edu 37 16 70731086 70731086 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:70731086G>A uc002ezm.3 - 15 2169 c.1911C>T c.(1909-1911)ttC>ttT p.F637F VAC14_uc010cfw.3_Silent_p.F403F|VAC14_uc002ezn.3_Silent_p.F202F|VAC14_uc002ezl.3_Silent_p.F69F|VAC14_uc010cfx.1_Silent_p.F115F NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA. 637 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TCTGGGTGAGGAAGCAGAGGG 0.607000 16 7 0 0 0.004482 0 0 DSCAML1 57453 broad.mit.edu 37 11 117351209 117351209 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:117351209C>T uc001prh.1 - 13 2916 c.2914G>A c.(2914-2916)Gac>Aac p.D972N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 912 Fibronectin type-III 1. 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 p.F971F(1) 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) CTGTTCCCGTCGAATCGCTGG 0.637000 1 6 0 0 0.001168 0 0 DUS1L 64118 broad.mit.edu 37 17 80018758 80018758 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:80018758G>A uc002kdq.3 - 7 1341 c.922C>T c.(922-924)Ctg>Ttg p.L308L DUS1L_uc002kdp.3_Silent_p.L177L|DUS1L_uc002kdr.3_Silent_p.L308L NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA. 308 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CGCAGCTTCAGCTCCTGGCTC 0.672000 26 4 0 0 0.000602 0 0 HEPHL1 341208 broad.mit.edu 37 11 93806289 93806289 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:93806289G>A uc001pep.2 + 6 1488 c.1331G>A c.(1330-1332)aGa>aAa p.R444K AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 444 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTTACTAAAAGAAAGAGACTC 0.423000 4 14 0 0 0.004990 0 0 NOBOX 135935 broad.mit.edu 37 7 144098962 144098962 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:144098962C>T uc022aoj.1 - 3 292 c.292_splice c.e3+1 p.G98_splice NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 98 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GGGTACTCACCCCTTGTGAGT 0.453000 12 19 0 0 0.001882 0 0 FAM127C 441518 broad.mit.edu 37 X 134156298 134156298 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:134156298C>T uc004eyc.1 - 0 269 c.192G>A c.(190-192)aaG>aaA p.K64K NM_001078173 NP_001071641 Q17RB0 F127C_HUMAN Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA. 64 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) GGAACGTCACCTTCAGGGCGT 0.607000 16 10 0 0 0.000978 0 0 NLRP8 126205 broad.mit.edu 37 19 56485018 56485018 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:56485018G>A uc002qmh.3 + 7 2606 c.2535_splice c.e7-1 p.S845_splice NLRP8_uc010etg.3_Intron NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 845 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCTCCCATAGGATAGAGAACT 0.512000 64 86 0 0 0.003610 0 0 STAT4 6775 broad.mit.edu 37 2 191897874 191897874 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:191897874C>T uc002usm.2 - 21 2168 c.1853_splice c.e21-1 p.G618_splice STAT4_uc002usn.2_Splice_Site_p.G618_splice|STAT4_uc010zgk.1_Splice_Site_p.G463_splice|STAT4_uc002uso.2_Splice_Site_p.G618_splice NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 618 SH2. JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) ATCTCACTTCCCCTTGAAAAA 0.443000 15 7 0 0 0.003080 0 0 OVGP1 5016 broad.mit.edu 37 1 111957818 111957818 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:111957818G>A uc001eba.3 - 10 1361 c.1305C>T c.(1303-1305)atC>atT p.I435I OVGP1_uc001eaz.3_Silent_p.I397I|OVGP1_uc010owb.2_Silent_p.I83I NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 435 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) ACTTTCCGTGGATCTCAGTGA 0.498000 19 32 0 0 0.002096 0 0 CYP3A43 64816 broad.mit.edu 37 7 99436751 99436751 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:99436751G>A uc003ury.1 + 2 277 c.174G>A c.(172-174)tgG>tgA p.W58* CYP3A43_uc003urx.1_Nonsense_Mutation_p.W58*|CYP3A43_uc003urz.1_Nonsense_Mutation_p.W58*|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.G99E|CYP3A43_uc003usb.1_5'UTR NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 58 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AGGGTCTTTGGAATTTTGACA 0.358000 34 29 0 0 0.002096 0 0 TPCN2 219931 broad.mit.edu 37 11 68839459 68839459 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:68839459C>T uc001oos.2 + 10 1145 c.1029C>T c.(1027-1029)tcC>tcT p.S343S TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.S258S|TPCN2_uc010rqg.1_Silent_p.S343S|TPCN2_uc021qmo.1_Non-coding_Transcript NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN Homo sapiens two pore segment channel 2 (TPCN2), mRNA. 343 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCTATCCTCCATGGTGGGGG 0.632000 21 20 0 0 0.001882 0 0 NR1I2 8856 broad.mit.edu 37 3 119533863 119533863 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:119533863G>A uc003edj.3 + 5 2671 c.832G>A c.(832-834)Ggg>Agg p.G278R NR1I2_uc003edi.3_Missense_Mutation_p.G241R|NR1I2_uc003edk.3_Missense_Mutation_p.G317R|NR1I2_uc003edl.3_Missense_Mutation_p.G166R NM_003889 NP_003880 O75469 NR1I2_HUMAN Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA. 278 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CCTGCTGAAGGGGGCCGCTTT 0.612000 23 15 0 0 0.003163 0 0 WWP2 11060 broad.mit.edu 37 16 69965070 69965070 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:69965070C>T uc002exu.1 + 14 1550 c.1461C>T c.(1459-1461)tcC>tcT p.S487S WWP2_uc002exv.1_Silent_p.S487S|WWP2_uc010vlm.1_Silent_p.S371S|WWP2_uc010vln.1_Silent_p.S105S|WWP2_uc002exw.1_Silent_p.S48S|MIR140_uc002exx.1_5'Flank NM_007014 NP_008945 O00308 WWP2_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA. 487 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity p.S487F(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCAAGGTTCCCCTGGTGCTT 0.498000 59 44 0 0 0.003610 0 0 FCRL3 115352 broad.mit.edu 37 1 157666086 157666086 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:157666086G>A uc001fqz.4 - 6 1168 c.876C>T c.(874-876)atC>atT p.I292I FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.I18I|FCRL3_uc001frb.3_Silent_p.I292I|FCRL3_uc001frc.1_Silent_p.I292I NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 292 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CGGTGGGCCGGATCTCTAGAT 0.527000 58 16 0 0 0.004990 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726441 168726441 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:168726441C>T uc021vsc.1 + 0 892 c.892C>T c.(892-894)Cgc>Tgc p.R298C B3GALT1_uc002udz.1_Missense_Mutation_p.R298C NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 298 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 GTGTAGGTATCGCCGAGTTAT 0.433000 22 8 0 0 0.003080 0 0 UNC79 57578 broad.mit.edu 37 14 94120150 94120150 + Missense_Mutation SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:94120150A>G uc001ybv.1 + 34 5881 c.5798A>G c.(5797-5799)cAg>cGg p.Q1933R UNC79_uc001ybs.1_Missense_Mutation_p.Q1911R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2088 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATCTTCCATCAGTTGGCCCCC 0.552000 94 91 0 0 0.003610 0 0 APCS 325 broad.mit.edu 37 1 159558477 159558477 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:159558477C>T uc001ftv.3 + 1 747 c.651C>T c.(649-651)atC>atT p.I217I NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 217 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) ATGTCATCATCAAACCCTTGG 0.463000 40 41 0 0 0.003610 0 0 MIER2 54531 broad.mit.edu 37 19 327918 327918 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:327918C>T uc002lok.1 - 3 324 c.315G>A c.(313-315)cgG>cgA p.R105R NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCACTCTCCCGGTCTGAAA 0.592000 15 10 0 0 0.008291 0 0 NPEPL1 79716 broad.mit.edu 37 20 57274285 57274285 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:57274285C>T uc010zzs.1 + 4 725 c.630C>T c.(628-630)atC>atT p.I210I NPEPL1_uc010zzr.2_Silent_p.I162I|NPEPL1_uc010gjo.2_Silent_p.I182I|NPEPL1_uc002xzp.3_Silent_p.I98I NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA. 210 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) AGCTGGGGATCATCCCAACCA 0.542000 5 4 0 0 0.000602 0 0 PDE1C 5137 broad.mit.edu 37 7 31890269 31890269 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:31890269G>A uc003tcm.2 - 7 1298 c.837C>T c.(835-837)ttC>ttT p.F279F PDE1C_uc003tcn.1_Silent_p.F279F|PDE1C_uc003tco.2_Silent_p.F339F|PDE1C_uc003tcr.3_Silent_p.F279F|PDE1C_uc003tcs.3_Silent_p.F279F NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 279 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCTGAATGTGGAAATTGTTGG 0.448000 47 42 0 0 0.003610 0 0 PDE2A 5138 broad.mit.edu 37 11 72289953 72289953 + Silent SNP C G G rs143835725 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:72289953C>G uc010rrc.2 - 27 2703 c.2457G>C c.(2455-2457)acG>acC p.T819T PDE2A_uc001oso.3_Silent_p.T798T|PDE2A_uc010rra.2_Silent_p.T812T|PDE2A_uc001osn.3_Silent_p.T563T|PDE2A_uc010rrb.2_Silent_p.T810T|PDE2A_uc010rrd.2_Silent_p.T704T NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 819 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CGATCTTTCTCGTAGTCTTCC 0.592000 120 100 0 0 0.003610 0 0 G6PC 2538 broad.mit.edu 37 17 41063431 41063431 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:41063431G>A uc002icb.1 + 4 1141 c.1062G>A c.(1060-1062)aaG>aaA p.K354K G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA. 354 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) AGCCGCACAAGAAGTCGTTGT 0.527000 55 15 0 0 0.004990 0 0 OR8D2 283160 broad.mit.edu 37 11 124189215 124189215 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:124189215C>T uc010sah.2 - 0 879 c.879G>A c.(877-879)agG>agA p.R293R NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) CATCCTTGTTCCTCAGGCTAT 0.428000 32 23 0 0 0.002780 0 0 TNRC6B 23112 broad.mit.edu 37 22 40706893 40706893 + Missense_Mutation SNP C A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:40706893C>A uc011aor.2 + 16 4542 c.4331C>A c.(4330-4332)aCa>aAa p.T1444K TNRC6B_uc003aym.3_Missense_Mutation_p.T640K|TNRC6B_uc003ayn.4_Missense_Mutation_p.T1334K|TNRC6B_uc003ayo.3_Missense_Mutation_p.T1191K NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1444 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CCTGGTGACACACTGGGTGGC 0.498000 11 6 3.59834e-05 4.93828e-05 0.001168 1 0 SPRR2D 6703 broad.mit.edu 37 1 153012692 153012692 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:153012692G>A uc021ozq.1 - 0 131 c.131C>T c.(130-132)cCc>cTc p.P44L SPRR2D_uc001fbb.2_Missense_Mutation_p.P44L NM_006945 NP_008876 P22532 SPR2D_HUMAN Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA. 44 3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS]. keratinization cornified envelope|cytoplasm endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGGGCAGGGCTGTGGACA 0.612000 96 39 0 0 0.008740 0 0 abParts 0 broad.mit.edu 37 14 107282946 107282946 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:107282946C>T uc021ser.1 - 1 c.117G>A Parts of antibodies, mostly variable regions. CCATCCCATCCACTCAAGCCC 0.552000 50 29 0 0 0.001786 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44796724 44796724 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:44796724C>T uc003tlr.3 + 3 467 c.344C>T c.(343-345)cCt>cTt p.P115L ZMIZ2_uc003tlq.3_Missense_Mutation_p.P83L|ZMIZ2_uc003tls.3_Missense_Mutation_p.P115L|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 115 Gly-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GGGGGCTACCCTGGGGCCCCC 0.642000 5 8 0 0 0.003080 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355126 33355126 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:33355126G>A uc002ntv.4 - 3 471 c.354C>T c.(352-354)atC>atT p.I118I SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.I118I|SLC7A9_uc021usa.1_Silent_p.I118I|SLC7A9_uc002ntw.4_5'UTR NM_001126335 NP_055085 P82251 BAT1_HUMAN Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA. 118 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GCTTAATGACGATCAGGCTGG 0.572000 32 8 0 0 0.004482 0 0 ALPK1 80216 broad.mit.edu 37 4 113346895 113346895 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:113346895C>T uc003ian.4 + 6 837 c.610C>T c.(610-612)Ctg>Ttg p.L204L ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Silent_p.L204L|ALPK1_uc011cfx.2_Silent_p.L126L|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 204 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGGGCAGATTCTGCAAAAGCT 0.413000 77 29 0 0 0.008361 0 0 ACE 1636 broad.mit.edu 37 17 61560476 61560476 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61560476G>A uc002jau.2 + 8 1463 c.1429G>A c.(1429-1431)Ggg>Agg p.G477R ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.G294R|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 477 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) GTGGCGCTGGGGGGTCTTTAG 0.532000 170 21 0 0 0.005443 0 0 ZNF71 58491 broad.mit.edu 37 19 57132752 57132752 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:57132752C>T uc002qnm.4 + 2 335 c.97C>T c.(97-99)Cct>Tct p.P33S ZNF71_uc021vcg.1_Missense_Mutation_p.P33S NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 33 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) TGCCAGGGGTCCTGGCTCAGA 0.587000 18 7 0 0 0.001984 0 0 TGM2 7052 broad.mit.edu 37 20 36760877 36760877 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:36760877G>A uc002xhr.3 - 10 1741 c.1641C>T c.(1639-1641)ctC>ctT p.L547L TGM2_uc002xhq.3_Silent_p.L148L|TGM2_uc010zvx.2_Silent_p.L466L|TGM2_uc010zvy.2_Silent_p.L487L|TGM2_uc002xhs.1_Silent_p.L523L NM_004613 NP_004604 P21980 TGM2_HUMAN Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. 547 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) ATTTCTCATAGAGGATGCAAA 0.547000 89 82 0 0 0.003610 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458098 45458098 + RNA SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:45458098C>T uc001rol.3 - 0 c.1097G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. GCCAGCATTCCCTCTCCAATC 0.507000 7 14 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 8976277 8976277 + Missense_Mutation SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:8976277T>C uc002mkp.3 - 74 42755 c.42551A>G c.(42550-42552)gAt>gGt p.D14184G MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D984G|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14215 SEA 14. Missing (in Ref. 3; AAK74120). 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 GAAGAGGCTATCCCTGTCCAG 0.512000 14 8 0 0 0.006214 0 0 ARMCX5-GPRASP2 100528062 broad.mit.edu 37 X 101970302 101970302 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:101970302C>T uc022cbh.1 + 0 505 c.505C>T c.(505-507)Ctg>Ttg p.L169L ARMCX5-GPRASP2_uc022cay.1_Silent_p.L169L|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.L169L|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.L169L|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.L169L|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.L169L|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.L169L|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.L169L NM_001199818 NP_001186747 Q96D09 GASP2_HUMAN Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA. 169 cytoplasm protein binding ATCTAAGGGCCTGTCTATGGA 0.527000 3 59 0 0 0.003610 0 0 CACNB2 783 broad.mit.edu 37 10 18789789 18789789 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:18789789G>A uc001ipr.2 + 4 565 c.505G>A c.(505-507)Gaa>Aaa p.E169K CACNB2_uc001ipt.2_Missense_Mutation_p.E169K|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.E169K|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.E141K|CACNB2_uc001ipv.3_Missense_Mutation_p.E141K|CACNB2_uc009xka.2_Missense_Mutation_p.E141K|CACNB2_uc001ipw.2_Missense_Mutation_p.E114K|CACNB2_uc001ipx.2_Missense_Mutation_p.E114K|CACNB2_uc009xkb.1_Missense_Mutation_p.E115K|CACNB2_uc010qcm.2_Missense_Mutation_p.E115K|CACNB2_uc001ipz.2_Missense_Mutation_p.E115K|CACNB2_uc001ipy.2_Missense_Mutation_p.E115K|CACNB2_uc010qcn.2_Missense_Mutation_p.E121K|CACNB2_uc010qco.1_Missense_Mutation_p.E121K|CACNB2_uc001iqa.2_Missense_Mutation_p.E121K NM_201596 NP_963890 Q08289 CACB2_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA. 169 SH3. axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGAAGGCTGTGAAATCGGATT 0.408000 42 14 0 0 0.003163 0 0 VANGL2 57216 broad.mit.edu 37 1 160389283 160389283 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:160389283C>T uc001fwb.2 + 4 983 c.684C>T c.(682-684)ttC>ttT p.F228F VANGL2_uc001fwc.2_Silent_p.F228F NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA. 228 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCTTCTTTTCGTGCACTACC 0.647000 31 13 0 0 0.002450 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698678 187698678 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:187698678G>A uc002upu.1 - 5 863 c.823C>T c.(823-825)Cgt>Tgt p.R275C NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 275 apoptosis zinc ion binding p.R275C(4) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TGTACCTCACGAAATGTAAAC 0.363000 21 9 0 0 0.006214 0 0 GPR128 84873 broad.mit.edu 37 3 100373774 100373774 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:100373774C>T uc003duc.3 + 11 1743 c.1475C>T c.(1474-1476)tCc>tTc p.S492F GPR128_uc011bhc.2_Missense_Mutation_p.S193F|GPR128_uc003dud.3_Missense_Mutation_p.S15F NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 492 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 ATTGAAAACTCCAATAAGAAC 0.383000 40 27 0 0 0.006320 0 0 HSF1 3297 broad.mit.edu 37 8 145535756 145535756 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:145535756C>T uc003zbt.4 + 8 1138 c.968C>T c.(967-969)aCc>aTc p.T323I HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 323 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TCCGTGGACACCCTCTTGTCC 0.706000 9 4 0 0 0.000248 0 0 PRB2 653247 broad.mit.edu 37 12 11546453 11546453 + Missense_Mutation SNP C G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:11546453C>G uc010shk.1 - 2 594 c.559G>C c.(559-561)Gga>Cga p.G187R NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGTTGCCTCCTTGTGGGGGT 0.602000 119 34 0 0 0.003610 0 0 UGT3A2 167127 broad.mit.edu 37 5 36038066 36038066 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:36038066C>T uc003jjz.2 - 5 1260 c.1128G>A c.(1126-1128)atG>atA p.M376I UGT3A2_uc011cos.2_Missense_Mutation_p.M342I|UGT3A2_uc011cot.2_Missense_Mutation_p.M74I NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 376 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGATGGCCTCCATTATGCTAT 0.493000 25 28 0 0 0.007291 0 0 OR4N2 390429 broad.mit.edu 37 14 20295843 20295843 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:20295843C>T uc010tkv.2 + 0 236 c.236C>T c.(235-237)cCc>cTc p.P79L NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTGTGGCTCCCCGGATGTTG 0.517000 195 36 0 0 0.007835 0 0 BIN2 51411 broad.mit.edu 37 12 51696470 51696470 + Splice_Site SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:51696470C>T uc001ryg.3 - 4 364 c.312_splice c.e4+1 p.W104_splice BIN2_uc009zlz.3_Splice_Site_p.W104_splice|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Splice_Site_p.W78_splice NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 104 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CCACTCTTACCCATACGATGG 0.443000 87 35 0 0 0.005524 0 0 SPP1 6696 broad.mit.edu 37 4 88902819 88902819 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:88902819C>T uc003hra.3 + 5 574 c.409C>T c.(409-411)Ccc>Tcc p.P137S SPP1_uc011cde.2_Missense_Mutation_p.P150S|SPP1_uc003hrb.3_Missense_Mutation_p.P110S|SPP1_uc003hrc.3_Missense_Mutation_p.P123S|SPP1_uc003hrd.3_Missense_Mutation_p.P96S NM_001040058 NP_001035147 P10451 OSTP_HUMAN Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA. 137 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CACTGATTTTCCCACGGACCT 0.468000 59 47 0 0 0.003610 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083391 44083391 + Silent SNP A G G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:44083391A>G uc003bdy.2 - 10 1416 c.1102T>C c.(1102-1104)Ttg>Ctg p.L368L EFCAB6_uc003bdz.2_Silent_p.L216L|EFCAB6_uc010gzi.2_Silent_p.L216L|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.L365L NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CTAACTTGCAACCCCTGAGGC 0.289000 32 26 0 0 0.006320 0 0 CHDH 55349 broad.mit.edu 37 3 53853615 53853615 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:53853615G>A uc003dgz.3 - 6 1648 c.1207C>T c.(1207-1209)Ctg>Ttg p.L403L NM_018397 NP_060867 Q8NE62 CHDH_HUMAN Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA. 403 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TGGGATGGCAGGAAATGGAAC 0.627000 19 8 0 0 0.004482 0 0 ABCC10 89845 broad.mit.edu 37 6 43410735 43410735 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:43410735C>T uc003ouy.1 + 9 2469 c.2254C>T c.(2254-2256)Cct>Tct p.P752S ABCC10_uc003ouz.1_Missense_Mutation_p.P724S|ABCC10_uc010jyo.1_5'UTR NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 752 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L752L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 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) CCTCGATGACCCTCTGGCCGC 0.592000 43 9 0 0 0.008291 0 0 COL14A1 7373 broad.mit.edu 37 8 121379423 121379423 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:121379423C>T uc003yox.3 + 45 5356 c.5091C>T c.(5089-5091)atC>atT p.I1697I COL14A1_uc003yoz.3_Silent_p.I662I NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1697 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAACTGGTATCAAAGGAGAAA 0.378000 19 19 0 0 0.008871 0 0 MYCBP2 23077 broad.mit.edu 37 13 77661649 77661649 + Silent SNP T C C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:77661649T>C uc021rks.1 - 61 11112 c.10845A>G c.(10843-10845)gaA>gaG p.E3615E MYCBP2_uc010aev.3_Silent_p.E2981E|MYCBP2_uc001vke.3_Silent_p.E197E NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 3577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGTTTTATTTTCTTCATCCT 0.353000 8 7 0 0 0.004482 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232978 1232978 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:1232978C>T uc003jby.2 + 2 537 c.414C>T c.(412-414)tcC>tcT p.S138S NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 138 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCTGGAGCTCCTGCCCACCGG 0.632000 31 4 0 0 0.001168 0 0 PITPNM1 9600 broad.mit.edu 37 11 67260519 67260519 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:67260519G>A uc001olx.3 - 21 3546 c.3357C>T c.(3355-3357)atC>atT p.I1119I PITPNM1_uc001olw.3_Silent_p.I401I|PITPNM1_uc001oly.3_Silent_p.I1119I|PITPNM1_uc001olz.3_Silent_p.I1118I NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 1119 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AACCGGCCACGATGTTCAGTT 0.647000 47 61 0 0 0.003610 0 0 RNF217 154214 broad.mit.edu 37 6 125397890 125397890 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:125397890C>T uc003pzr.3 + 3 1198 c.664C>T c.(664-666)Cgc>Tgc p.R222C RNF217_uc003pzs.3_Missense_Mutation_p.R165C|RNF217_uc003pzt.3_Non-coding_Transcript Q8TC41 RN217_HUMAN Homo sapiens ring finger protein 217 (RNF217), mRNA. 165 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) TGAGAGATACCGCCAGCTCCG 0.443000 48 44 0 0 0.003610 0 0 FBLN1 2192 broad.mit.edu 37 22 45923826 45923826 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:45923826C>T uc010gzz.3 + 4 682 c.535C>T c.(535-537)Cag>Tag p.Q179* FBLN1_uc003bgg.1_Nonsense_Mutation_p.Q141*|FBLN1_uc003bgh.3_Nonsense_Mutation_p.Q141*|FBLN1_uc003bgi.1_Nonsense_Mutation_p.Q141*|FBLN1_uc003bgj.1_Nonsense_Mutation_p.Q141* NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 141 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ACAGGTCTTCCAGGCATGCTG 0.597000 42 19 0 0 0.001523 0 0 SMCHD1 23347 broad.mit.edu 37 18 2718232 2718232 + Splice_Site SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:2718232G>A uc002klm.4 + 18 2527 c.2338_splice c.e18+1 p.E780_splice SMCHD1_uc002klk.4_Splice_Site|SMCHD1_uc002kll.4_Splice_Site NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 780 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TTAAAAAAATGGGTGAGTTCT 0.284000 24 14 0 0 0.004007 0 0 FBN2 2201 broad.mit.edu 37 5 127609652 127609652 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:127609652C>T uc003kuu.3 - 60 8159 c.7720G>A c.(7720-7722)Gaa>Aaa p.E2574K NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 2574 EGF-like 44; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACCCACATTCGTTGTTGTCT 0.433000 17 10 0 0 0.001855 0 0 PZP 5858 broad.mit.edu 37 12 9322155 9322155 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:9322155G>A uc001qvl.3 - 15 1901 c.1872C>T c.(1870-1872)acC>acT p.T624T PZP_uc009zgl.3_Silent_p.T493T|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CAGGAAAATTGGTGAGATCCT 0.418000 21 17 0 0 0.001882 0 0 UPB1 51733 broad.mit.edu 37 22 24916373 24916373 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr22:24916373C>T uc003aaf.3 + 6 2105 c.810C>T c.(808-810)atC>atT p.I270I UPB1_uc003aae.3_Silent_p.I202I|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 270 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding p.I270I(2) endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TGTGGCCCATCGAGGCCAGAA 0.612000 13 7 0 0 0.004482 0 0 RNF17 56163 broad.mit.edu 37 13 25374598 25374599 + Missense_Mutation DNP AC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:25374598_25374599AC>TT uc001upr.3 + 12 1725_1726 c.1684_1685AC>TT c.(1684-1686)act>TTt p.T562F RNF17_uc010tdd.1_Missense_Mutation_p.T421F|RNF17_uc010tde.2_Missense_Mutation_p.T562F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T501F NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 562 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGAACCATATACTGAAGGGCTG 0.381000 32 33 0 0 0.004672 0 0 OBSCN 84033 broad.mit.edu 37 1 228466962 228466962 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:228466962C>T uc009xez.1 + 26 7257 c.7213C>T c.(7213-7215)Ccc>Tcc p.P2405S OBSCN_uc001hsn.3_Missense_Mutation_p.P2405S|OBSCN_uc001hsp.1_Missense_Mutation_p.P104S|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2405 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACCTCCATCCCCTCAGTGCG 0.637000 18 12 0 0 0.003163 0 0 ITPR1 3708 broad.mit.edu 37 3 4854903 4854903 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:4854903C>T uc003bqc.3 + 55 7851 c.7501C>T c.(7501-7503)Cct>Tct p.P2501S ITPR1_uc021wsi.1_Missense_Mutation_p.P2468S|ITPR1_uc021wsj.1_Missense_Mutation_p.P2453S|ITPR1_uc011asu.2_Missense_Mutation_p.P479S|ITPR1_uc010hcc.2_Missense_Mutation_p.P236S|ITPR1_uc011asv.2_Missense_Mutation_p.P192S NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2516 Interaction with ERP44 (By similarity). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTGCTCCTCTCCTGCACCCAG 0.507000 36 34 0 0 0.003271 0 0 NEB 4703 broad.mit.edu 37 2 152507129 152507129 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:152507129C>T uc021vrb.1 - 50 7215 c.7186G>A c.(7186-7188)Gat>Aat p.D2396N NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2396 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCACAACATCGTTCTGATCA 0.388000 40 93 0 0 0.003610 0 0 TIE1 7075 broad.mit.edu 37 1 43772659 43772659 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:43772659C>T uc001ciu.3 + 3 810 c.633C>T c.(631-633)atC>atT p.I211I TIE1_uc010okd.2_Silent_p.I211I|TIE1_uc010oke.2_Silent_p.I166I|TIE1_uc009vwq.3_Silent_p.I211I|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010okb.2_Silent_p.I211I|TIE1_uc010okc.2_Silent_p.I211I NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 211 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCGGCTCATCGTGCGGGGTC 0.637000 15 7 0 0 0.001984 0 0 CPNE2 221184 broad.mit.edu 37 16 57153179 57153179 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:57153179C>T uc010cct.2 + 6 1005 c.658C>T c.(658-660)Cac>Tac p.H220Y CPNE2_uc002eks.2_Missense_Mutation_p.H194Y|CPNE2_uc010ccu.2_Missense_Mutation_p.H194Y NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN Homo sapiens copine II (CPNE2), mRNA. 194 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) GATGCTGGTCCACAGGACTGA 0.592000 22 19 0 0 0.002780 0 0 INPP5E 56623 broad.mit.edu 37 9 139327674 139327674 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:139327674G>A uc004cho.3 - 3 1477 c.1092C>T c.(1090-1092)tcC>tcT p.S364S INPP5E_uc010nbm.3_Silent_p.S364S NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA. 364 Golgi cisterna membrane|cilium axoneme|cytoskeleton inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGGCCGCCGAGGACAGCAGCA 0.692000 11 4 0 0 0.000248 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459888 107459888 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:107459888C>T uc002tdq.3 - 1 665 c.546G>A c.(544-546)agG>agA p.R182R ST6GAL2_uc002tdr.3_Silent_p.R182R|ST6GAL2_uc002tds.3_Silent_p.R182R NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 182 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 ACACGTGGCTCCTTCTCTGCC 0.647000 19 16 0 0 0.006122 0 0 ATP8A1 10396 broad.mit.edu 37 4 42414996 42414996 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr4:42414996G>A uc003gwr.2 - 36 3664 c.3432C>T c.(3430-3432)atC>atT p.I1144I ATP8A1_uc003gwq.2_Silent_p.I370I|ATP8A1_uc003gws.2_Silent_p.I1129I|ATP8A1_uc021xnv.1_5'Flank NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 1144 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.I1144I(2)|p.I1129I(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ACTGTGAAACGATTCCATTTT 0.438000 30 9 0 0 0.006214 0 0 ITSN1 6453 broad.mit.edu 37 21 35260506 35260506 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr21:35260506G>A uc002yta.1 + 39 5336 c.5068G>A c.(5068-5070)Ggc>Agc p.G1690S DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.G1685S|ITSN1_uc002ytj.2_Missense_Mutation_p.G1629S|ITSN1_uc010gmm.1_Non-coding_Transcript NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 1690 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 GAAAGACCAGGGCTCCAAAGG 0.532000 26 17 0 0 0.004990 0 0 WBP11 51729 broad.mit.edu 37 12 14941981 14941981 + Nonsense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:14941981G>A uc001rci.3 - 10 1557 c.1396C>T c.(1396-1398)Cga>Tga p.R466* NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN Homo sapiens WW domain binding protein 11 (WBP11), mRNA. 466 Pro-rich. RNA splicing|mRNA processing|rRNA processing cytoplasm WW domain binding|single-stranded DNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 CCAGGGGGTCGGCCTGGTGGT 0.642000 16 17 0 0 0.007413 0 0 MUC5B 727897 broad.mit.edu 37 11 1263664 1263664 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:1263664G>A uc001lta.3 + 30 5613 c.5554G>A c.(5554-5556)Gag>Aag p.E1852K NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1852 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGCAGCCTGGAGACGGGGCT 0.587000 23 11 0 0 0.000978 0 0 ERC2 26059 broad.mit.edu 37 3 56330423 56330423 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:56330423C>T uc021wzo.1 - 1 838 c.698G>A c.(697-699)cGa>cAa p.R233Q ERC2_uc003dhr.1_Missense_Mutation_p.R233Q NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 233 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCTCTGGGTTCGCAGCTCATC 0.522000 32 10 0 0 0.006214 0 0 FPR3 2359 broad.mit.edu 37 19 52327436 52327436 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:52327436G>A uc002pxt.1 + 1 619 c.435G>A c.(433-435)gtG>gtA p.V145V FPR3_uc021uyq.1_Silent_p.V145V NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 145 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CCAAGAGGGTGATGACGGGAC 0.478000 11 31 0 0 0.007291 0 0 KCNV1 27012 broad.mit.edu 37 8 110984918 110984918 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:110984918C>T uc003ynr.4 - 1 1364 c.560G>A c.(559-561)gGa>gAa p.G187E KCNV1_uc010mcw.3_Missense_Mutation_p.G187E NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA. 187 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.Q186K(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGGACAAGGTCCTTGGGAGAA 0.473000 55 29 0 0 0.006320 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140723892 140723892 + Nonsense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140723892C>T uc003ljm.2 + 0 292 c.292C>T c.(292-294)Cag>Tag p.Q98* PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Nonsense_Mutation_p.Q98* NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 98 Cadherin 1. 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) GCTCTGCGCTCAGATCCCGCT 0.453000 12 20 0 0 0.008871 0 0 CP 1356 broad.mit.edu 37 3 148905923 148905923 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr3:148905923C>T uc003ewy.4 - 9 2033 c.1780G>A c.(1780-1782)Gaa>Aaa p.E594K CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.E375K|CP_uc003ewz.3_Missense_Mutation_p.E594K|CP_uc010hvf.1_Missense_Mutation_p.E320K NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 594 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATATTATCTTCCAGGAGTAAA 0.338000 80 32 0 0 0.002445 0 0 ATM 472 broad.mit.edu 37 11 108121480 108121480 + Missense_Mutation SNP T A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:108121480T>A uc001pkb.1 + 9 1673 c.1288T>A c.(1288-1290)Tgt>Agt p.C430S ATM_uc009yxr.1_Missense_Mutation_p.C430S NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 430 DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity p.N429fs*7(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTACCTAACTGTGAGCTGTC 0.378000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 26 20 0 0 0.001882 0 0 WBSCR17 64409 broad.mit.edu 37 7 71036309 71036309 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:71036309G>A uc003tvy.3 + 5 1002 c.1002G>A c.(1000-1002)agG>agA p.R334R WBSCR17_uc003tvz.3_Silent_p.R33R NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 334 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGGTCAACAGGAAGTTCTTCG 0.502000 55 37 0 0 0.004878 0 0 PCM1 5108 broad.mit.edu 37 8 17823920 17823920 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr8:17823920C>T uc022asj.1 + 18 3298 c.3276C>T c.(3274-3276)ttC>ttT p.F1092F PCM1_uc003wyi.4_Silent_p.F1053F|PCM1_uc011kyh.2_Silent_p.F1053F|PCM1_uc003wyj.4_Silent_p.F1054F NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1053 G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AAGTACACTTCATAATGCACC 0.393000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 100 23 0 0 0.002780 0 0 KRT35 3886 broad.mit.edu 37 17 39637161 39637161 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:39637161G>A uc002hws.3 - 0 232 c.189C>T c.(187-189)gcC>gcT p.A63A NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 63 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GGCAGCTGGTGGCCCTGTAGC 0.612000 20 7 0 0 0.003080 0 0 DNAH5 1767 broad.mit.edu 37 5 13870977 13870977 + Missense_Mutation SNP G A A rs149609746 TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:13870977G>A uc003jfd.2 - 23 3775 c.3733C>T c.(3733-3735)Cgt>Tgt p.R1245C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1245 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTAATTGGACGATTTAGTTTC 0.393000 Kartagener syndrome 29 17 0 0 0.004990 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671372 112671372 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:112671372G>A uc003pvx.1 + 2 774 c.462G>A c.(460-462)gaG>gaA p.E154E RFPL4B_uc021zdy.1_Silent_p.E154E NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA. 154 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) AAGTGGGAGAGGTGAAGTCAT 0.552000 25 34 0 0 0.005524 0 0 ZNF862 643641 broad.mit.edu 37 7 149558499 149558500 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:149558499_149558500CC>TT uc010lpn.3 + 6 2442_2443 c.2250_2251CC>TT c.(2248-2253)atccgc>atTTgc p.R751C NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 751 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity p.R751C(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 ACCGGCACATCCGCACCGTCTT 0.609000 24 21 0 0 0.004672 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758648 62758648 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:62758648G>A uc011kdj.2 - 1 230 c.162C>T c.(160-162)tcC>tcT p.S54S Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA. CCTCACCCAGGGAGACCAAGT 0.353000 39 26 0 0 0.002836 0 0 CPNE1 8904 broad.mit.edu 37 20 34220719 34220719 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr20:34220719C>T uc010zvj.2 - 1 509 c.142G>A c.(142-144)Gag>Aag p.E48K CPNE1_uc002xde.3_Missense_Mutation_p.E43K|CPNE1_uc002xdf.3_Missense_Mutation_p.E43K|CPNE1_uc002xdi.3_Missense_Mutation_p.E43K|CPNE1_uc002xdj.3_Missense_Mutation_p.E43K|CPNE1_uc002xdl.3_Missense_Mutation_p.E43K|CPNE1_uc002xdm.3_Missense_Mutation_p.E43K|CPNE1_uc010gfk.2_Missense_Mutation_p.E43K|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Non-coding_Transcript NM_003915 NP_690905 Q99829 CPNE1_HUMAN Homo sapiens copine I (CPNE1), transcript variant 3, mRNA. 43 C2 1. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CGCCTCACCTCAGCCCAGCTG 0.557000 54 12 0 0 0.001368 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47118857 47118857 + Silent SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:47118857C>T uc002iom.3 + 7 1270 c.936C>T c.(934-936)atC>atT p.I312I IGF2BP1_uc010dbj.3_Silent_p.I173I NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 312 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AAATCACCATCTCCTCGTAAG 0.463000 19 17 0 0 0.006122 0 0 MYH7 4625 broad.mit.edu 37 14 23897062 23897062 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:23897062G>A uc001wjx.3 - 15 1726 c.1620C>T c.(1618-1620)ttC>ttT p.F540F NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 540 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCTTGGGGAACATGCACT 0.547000 27 24 0 0 0.002780 0 0 FLNC 2318 broad.mit.edu 37 7 128494221 128494221 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr7:128494221G>A uc003vnz.4 + 39 6887 c.6678G>A c.(6676-6678)ctG>ctA p.L2226L FLNC_uc003voa.4_Silent_p.L2193L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2226 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGGACTTCCTGGGCCGGGAGC 0.711000 7 6 0 0 0.004482 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43016349 43016349 + RNA SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:43016349G>A uc001jab.4 - 4 c.2851C>T ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA. GAATTCTCAGGGAAAGCTTTC 0.373000 20 16 0 0 0.004990 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013857 117013857 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:117013857G>A uc009zwk.1 + 1 264 c.110G>A c.(109-111)cGa>cAa p.R37Q MAP1LC3B2_uc021rej.1_Missense_Mutation_p.R37Q NM_001085481 NP_001078950 A6NCE7 MP3B2_HUMAN Homo sapiens microtubule-associated protein 1 light chain 3 beta 2 (MAP1LC3B2), mRNA. 37 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule p.R37Q(2) breast(1)|large_intestine(2)|lung(3) 6 ATAATAGAACGATACAAGGGT 0.458000 64 30 0 0 0.002096 0 0 ACAP1 9744 broad.mit.edu 37 17 7240682 7240682 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:7240682G>A uc002ggd.2 + 1 311 c.105G>A c.(103-105)ctG>ctA p.L35L NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 35 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGACCCGTCTGGAAAAGGTGA 0.557000 45 16 0 0 0.004007 0 0 BTNL8 79908 broad.mit.edu 37 5 180374603 180374603 + Silent SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:180374603G>A uc003mmp.3 + 3 999 c.765G>A c.(763-765)aaG>aaA p.K255K BTNL8_uc003mmq.3_Silent_p.K255K|BTNL8_uc010jll.3_Silent_p.K255K|BTNL8_uc011dhg.2_Silent_p.K130K|BTNL8_uc010jlm.3_Silent_p.K139K|BTNL8_uc011dhh.2_Silent_p.K71K NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 255 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGGACTGAAGATTTTCTTCT 0.473000 124 57 0 0 0.003610 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43821151 43821151 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr12:43821151G>A uc010skx.2 - 26 4067 c.4067C>T c.(4066-4068)cCa>cTa p.P1356L ADAMTS20_uc001rno.1_Missense_Mutation_p.P474L NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1356 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACAAGGCCCTGGACCACATTG 0.448000 35 16 0 0 0.004990 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890584 63890584 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:63890584G>A uc003jtj.3 + 3 511 c.511G>A c.(511-513)Gag>Aag p.E171K RGS7BP_uc011cqu.2_Missense_Mutation_p.E38K NM_001029875 NP_001025046 Q6MZT1 R7BP_HUMAN Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA. 171 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CAAAATTGAGGAGAGTGCTGA 0.478000 26 41 0 0 0.002222 0 0 FHL5 9457 broad.mit.edu 37 6 97053856 97053856 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:97053856G>A uc003pos.2 + 4 829 c.413G>A c.(412-414)gGg>gAg p.G138E FHL5_uc003pot.2_Missense_Mutation_p.G138E NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 138 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CAACCTATAGGGACAAAGCCT 0.413000 25 9 0 0 0.004482 0 0 ASXL3 80816 broad.mit.edu 37 18 31324329 31324329 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr18:31324329G>A uc010dmg.1 + 11 4572 c.4517G>A c.(4516-4518)aGg>aAg p.R1506K ASXL3_uc002kxq.2_Missense_Mutation_p.R1213K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGACCAGTGAGGACAGAGGCA 0.557000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 5 0 0 0.000602 0 0 HHIPL2 79802 broad.mit.edu 37 1 222696044 222696044 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:222696044G>A uc001hnh.1 - 8 2132 c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 692 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CGGACGTGGGGCCCCACTCTG 0.567000 332 115 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711422 140711422 + Missense_Mutation SNP C T T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:140711422C>T uc003lji.2 + 0 1171 c.1171C>T c.(1171-1173)Ccc>Tcc p.P391S PCDHGC5_uc011dan.2_Missense_Mutation_p.P391S NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 394 Cadherin 4. 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) TGGAAATTTACCCTTTAAATT 0.393000 23 9 0 0 0.004482 0 0 SLC6A7 6534 broad.mit.edu 37 5 149581965 149581965 + Missense_Mutation SNP G A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:149581965G>A uc003lrr.3 + 6 1285 c.914G>A c.(913-915)gGg>gAg p.G305E NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 305 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GGCTTCGGGGGGCTCCTCACC 0.572000 53 23 0 0 0.004656 0 0 FOXD2 2306 broad.mit.edu 37 1 47905020 47905020 + Frame_Shift_Del DEL G - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:47905020delG uc001crm.3 + 0 3332 c.1213delG c.(1213-1215)gggfs p.G405fs NM_004474 NP_004465 O60548 FOXD2_HUMAN Homo sapiens forkhead box D2 (FOXD2), mRNA. 405 Ala-rich.|Gly-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) CGGGGGCGCCGGGGCAGGGCA 0.766 --- 4 --- --- 2 --- GPR61 83873 broad.mit.edu 37 1 110085890 110085905 + Frame_Shift_Del DEL CTGCCTGGTGGACCTG - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr1:110085890_110085905delCTGCCTGGTGGACCTG uc021orh.1 + 0 246_261 c.246_261delCTGCCTGGTGGACCTG c.(244-261)ctctgcctggtggacctgfs p.L82fs GPR61_uc001dxy.2_Frame_Shift_Del_p.L82fs NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA. 82 integral to membrane|plasma membrane G-protein coupled receptor activity p.D86G(2) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TCTTCCACCTCTGCCTGGTGGACCTGCTGGCTGCCC 0.616 --- 33 --- --- 23 --- BIRC6 57448 broad.mit.edu 37 2 32828074 32828074 + Splice_Site DEL T - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr2:32828074delT uc010ezu.3 + 71 14127 c.13993_splice c.e71-1 p.V4665_splice NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 4665 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTTCGTCAGGTTTGTTTAAGC 0.343 --- 48 --- --- 14 --- YTHDC2 64848 broad.mit.edu 37 5 112874846 112874846 + Frame_Shift_Del DEL A - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr5:112874846delA uc003kqn.3 + 7 1380 c.1178delA c.(1177-1179)gaafs p.E393fs YTHDC2_uc010jce.2_Frame_Shift_Del_p.E393fs|YTHDC2_uc010jcf.2_Frame_Shift_Del_p.E93fs NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN Homo sapiens YTH domain containing 2 (YTHDC2), mRNA. 393 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.E393*(1) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ACAAACAAAGAAATGTTAAAA 0.229 --- 16 --- --- 17 --- GRIK2 2898 broad.mit.edu 37 6 102247659 102247659 + Frame_Shift_Del DEL T - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr6:102247659delT uc003pqp.4 + 6 1381 c.1088delT c.(1087-1089)attfs p.I363fs GRIK2_uc003pqn.3_Frame_Shift_Del_p.I363fs|GRIK2_uc010kcw.3_Frame_Shift_Del_p.I363fs|GRIK2_uc003pqo.4_Frame_Shift_Del_p.I363fs|GRIK2_uc021zdk.1_Frame_Shift_Del_p.I363fs|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 363 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ATGAGTCTAATTAAAGAGGTA 0.438 --- 42 --- --- 16 --- TRAF1 7185 broad.mit.edu 37 9 123675735 123675735 + Frame_Shift_Del DEL C - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr9:123675735delC uc004bku.2 - 4 1148 c.576delG c.(574-576)gggfs p.G192fs TRAF1_uc011lyg.2_Frame_Shift_Del_p.G70fs|TRAF1_uc010mvl.2_Frame_Shift_Del_p.G192fs NM_005658 NP_001177876 Q13077 TRAF1_HUMAN Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA. 192 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding p.G192G(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 CACGCAGCTTCCCCTCCAGCT 0.612 --- 33 --- --- 19 --- TAF3 83860 broad.mit.edu 37 10 8007517 8007517 + Frame_Shift_Del DEL T - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr10:8007517delT uc010qbd.2 + 2 2044 c.2044delT c.(2044-2046)ttgfs p.L682fs NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA. 682 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GCCATCTTTGTTGCCAGTGCT 0.507 --- 42 --- --- 32 --- AMPD3 272 broad.mit.edu 37 11 10514955 10514956 + Frame_Shift_Ins INS - A A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr11:10514955_10514956insA uc001min.1 + 6 1371_1372 c.1026_1027insA c.(1024-1029)atcaagfs p.I342fs AMPD3_uc010rbz.1_Frame_Shift_Ins_p.I174fs|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Frame_Shift_Ins_p.I333fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Ins_p.I340fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.I333fs NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 333 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGCGCTTCATCAAGCACACATA 0.614 --- 77 --- --- 47 --- AKAP11 11215 broad.mit.edu 37 13 42876378 42876387 + Frame_Shift_Del DEL CTCATGCGAT - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr13:42876378_42876387delCTCATGCGAT uc001uys.2 + 7 3671_3680 c.3496_3505delCTCATGCGAT c.(3496-3507)ctcatgcgatctfs p.L1166fs NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 1166 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CATGTTGAAACTCATGCGATCTCTTTCTGA 0.429 --- 47 --- --- 27 --- SSTR1 6751 broad.mit.edu 37 14 38678738 38678738 + Frame_Shift_Del DEL C - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr14:38678738delC uc021rsi.1 + 0 144 c.144delC c.(142-144)aacfs p.N48fs SSTR1_uc001wul.1_Frame_Shift_Del_p.N48fs NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 48 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CGTCCCAGAACGGGACCTTGA 0.692 --- 11 --- --- 11 --- FMN1 342184 broad.mit.edu 37 15 33359221 33359221 + Frame_Shift_Del DEL C - - rs142673160 by1000genomes TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:33359221delC uc001zhf.4 - 0 865 c.865delG c.(865-867)gctfs p.A289fs FMN1_uc001zhg.2_Frame_Shift_Del_p.A289fs NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN Homo sapiens formin 1 (FMN1), mRNA. 400 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCTCCCTCAGCGGTAGCCCCC 0.498 --- 25 --- --- 16 --- VPS13C 54832 broad.mit.edu 37 15 62214170 62214170 + Frame_Shift_Del DEL C - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr15:62214170delC uc002agz.3 - 54 7129 c.7038delG c.(7036-7038)aagfs p.K2346fs VPS13C_uc002aha.3_Frame_Shift_Del_p.K2303fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.K2346fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.K2303fs NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 2346 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCCATTGTCTCTTCCCCTCCA 0.358 --- 47 --- --- 40 --- DNAJA2 10294 broad.mit.edu 37 16 47005416 47005416 + Frame_Shift_Del DEL G - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr16:47005416delG uc002eeo.2 - 2 349 c.207delC c.(205-207)tacfs p.Y69fs NM_005880 NP_005871 O60884 DNJA2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA. 69 J. positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) CTTGCTCTCCGTATCTGTCAT 0.398 --- 121 --- --- 87 --- NF1 4763 broad.mit.edu 37 17 29528134 29528141 + Frame_Shift_Del DEL TTTCTTGC - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:29528134_29528141delTTTCTTGC uc002hgg.3 + 9 1525_1532 c.1142_1149delTTTCTTGC c.(1141-1149)gtttcttgcfs p.V381fs NF1_uc002hge.2_Frame_Shift_Del_p.V381fs|NF1_uc002hgf.2_Frame_Shift_Del_p.V381fs|NF1_uc002hgh.3_Frame_Shift_Del_p.V381fs|NF1_uc010csn.2_Frame_Shift_Del_p.V241fs NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 381 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GACTGCCTTGTTTCTTGCTTTCGTATAA 0.370 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) --- 43 --- --- 17 --- SPATA20 64847 broad.mit.edu 37 17 48632997 48632997 + Frame_Shift_Del DEL G - - rs150608206 byFrequency TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:48632997delG uc002ird.3 + 16 2524 c.2383delG c.(2383-2385)gaafs p.E795fs SPATA20_uc002irc.3_Frame_Shift_Del_p.E446fs|SPATA20_uc002ire.3_Frame_Shift_Del_p.E735fs|SPATA20_uc002irf.3_Frame_Shift_Del_p.E779fs|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 779 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding p.E795K(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TGATCCCTGCGAATTACGAAA 0.567 --- 15 --- --- 14 --- FTSJ3 117246 broad.mit.edu 37 17 61902618 61902624 + Frame_Shift_Del DEL GATCTCT - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr17:61902618_61902624delGATCTCT uc002jbz.3 - 5 651_657 c.573_579delAGAGATC c.(571-579)gcagagatcfs p.A191fs FTSJ3_uc002jca.3_Frame_Shift_Del_p.A191fs|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA. 191 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding p.E192Q(2) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 AGACTACAAAGATCTCTGCAGATTCAT 0.488 --- 43 --- --- 37 --- ALDH16A1 126133 broad.mit.edu 37 19 49969512 49969512 + Frame_Shift_Del DEL G - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chr19:49969512delG uc002pnt.3 + 13 2026 c.1910delG c.(1909-1911)cggfs p.R637fs ALDH16A1_uc010yar.2_Frame_Shift_Del_p.R586fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.R472fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.R474fs NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA. 637 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TGGGGGGCCCGGGTGCAGGCC 0.697 --- 4 --- --- 2 --- TLR7 51284 broad.mit.edu 37 X 12905306 12905308 + In_Frame_Del DEL CAG - - TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a17dfc3-f54c-4ca4-a2c3-0a387585d99b 9cff6731-b26a-4b4b-a68e-051b496c2f34 g.chrX:12905306_12905308delCAG uc004cvc.3 + 2 1818_1820 c.1679_1681delCAG c.(1678-1683)acagca>aca p.A561del NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 561 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CTCCATTCAACAGCATTTGAAGA 0.369 --- 14 --- --- 173 ---