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 PLEKHG2 64857 broad.mit.edu 37 19 39911444 39911444 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:39911444C>T uc010xuz.2 + 12 1676 c.1351C>T c.(1351-1353)Cct>Tct p.P451S PLEKHG2_uc010xuy.2_Missense_Mutation_p.P392S|PLEKHG2_uc002olj.3_Missense_Mutation_p.P451S|PLEKHG2_uc010xva.2_Missense_Mutation_p.P258S NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 451 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACTTGGGTCTCCTCGACCTCG 0.562000 56 32 0 0 0.004289 0 0 GPR45 11250 broad.mit.edu 37 2 105858970 105858970 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:105858970C>T uc002tco.1 + 0 771 c.655C>T c.(655-657)Ctc>Ttc p.L219F NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA. 219 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CATGTGCATCCTCAACACGGT 0.677000 33 34 0 0 0.002096 0 0 CSMD1 64478 broad.mit.edu 37 8 3046465 3046465 + Nonsense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:3046465C>A uc022aqr.1 - 34 5857 c.5467G>T c.(5467-5469)Gga>Tga p.G1823* CSMD1_uc011kwj.2_Nonsense_Mutation_p.G1216*|CSMD1_uc003wqe.3_Nonsense_Mutation_p.G980*|CSMD1_uc010lrg.3_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1824 CUB 11. 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) AAGTTGTTTCCGTATGGCTCA 0.478000 8 13 4.3838e-07 5.59679e-07 0.001855 1 0 PDE1C 5137 broad.mit.edu 37 7 31890332 31890332 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:31890332G>A uc003tcm.2 - 7 1235 c.774C>T c.(772-774)atC>atT p.I258I PDE1C_uc003tcn.1_Silent_p.I258I|PDE1C_uc003tco.2_Silent_p.I318I|PDE1C_uc003tcr.3_Silent_p.I258I|PDE1C_uc003tcs.3_Silent_p.I258I NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 258 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) TTATAGCAAAGATCTCCAGCT 0.448000 104 17 0 0 0.006122 0 0 TLR2 7097 broad.mit.edu 37 4 154625968 154625968 + Silent SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:154625968A>C uc003inq.3 + 2 2128 c.1909A>C c.(1909-1911)Agg>Cgg p.R637R TLR2_uc003inr.3_Silent_p.R637R|TLR2_uc003ins.3_Silent_p.R637R|TLR2_uc021xtl.1_Silent_p.R637R NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 637 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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 Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) AGCTCCCAGCAGGAACATCTG 0.542000 15 14 0 0 0.002450 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439891 75439891 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:75439891C>T uc010rru.2 + 4 707 c.707C>T c.(706-708)cCc>cTc p.P236L MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.P154L NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. 236 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) GACCAGATTCCCAACTCTTCT 0.537000 52 64 0 0 0.003610 0 0 EYA1 2138 broad.mit.edu 37 8 72211931 72211931 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:72211931C>T uc003xyu.3 - 7 1221 c.581G>A c.(580-582)gGa>gAa p.G194E EYA1_uc003xyt.4_Missense_Mutation_p.G161E|EYA1_uc003xyr.4_Missense_Mutation_p.G189E|EYA1_uc010lzf.3_Missense_Mutation_p.G121E|EYA1_uc003xys.4_Missense_Mutation_p.G194E|EYA1_uc011lfe.2_Missense_Mutation_p.G188E|EYA1_uc003xyv.3_Missense_Mutation_p.G72E NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 194 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 p.G194R(1) 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) TGTATATATTCCTGATGATGT 0.303000 74 34 0 0 0.004878 0 0 TRA@ 6955 broad.mit.edu 37 14 22111200 22111200 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:22111200G>A uc001wbk.3 + 0 92 c.59G>A c.(58-60)gGa>gAa p.G20E Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114. CAGATGTGGGGAGTTTTCCTT 0.463000 T """ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6""" T-ALL 29 19 0 0 0.003330 0 0 XIRP2 129446 broad.mit.edu 37 2 168102065 168102065 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:168102065G>A uc002udx.3 + 8 4252 c.4163G>A c.(4162-4164)aGa>aAa p.R1388K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1213K|XIRP2_uc010fpq.3_Missense_Mutation_p.R1166K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1213 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGTTCTGTCAGATACAGATTT 0.348000 35 33 0 0 0.005524 0 0 SETD1A 9739 broad.mit.edu 37 16 30975992 30975992 + Missense_Mutation SNP C T T rs146035438 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:30975992C>T uc002ead.1 + 6 1615 c.929C>T c.(928-930)tCc>tTc p.S310F NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 310 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding p.S310F(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GATGCCTTTTCCCGCCGCCAC 0.602000 68 68 0 0 0.003610 0 0 OR2L13 284521 broad.mit.edu 37 1 248263604 248263604 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:248263604C>T uc001ids.3 + 2 1264 c.927C>T c.(925-927)ttC>ttT p.F309F OR2L13_uc021pmc.1_Silent_p.F309F NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TATTCTCTTTCCTGAAAGAAT 0.448000 3 26 0 0 0.004656 0 0 BCAN 63827 broad.mit.edu 37 1 156628431 156628431 + Missense_Mutation SNP G C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:156628431G>C uc001fpp.3 + 12 2870 c.2534G>C c.(2533-2535)cGg>cCg p.R845P NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 845 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TACCGGTGCCGGGAAGGACTG 0.657000 9 139 0 0 0.003610 0 0 SORCS3 22986 broad.mit.edu 37 10 107007010 107007010 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:107007010C>T uc001kyi.1 + 21 3253 c.3026C>T c.(3025-3027)cCt>cTt p.P1009L SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1009 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCATTCTCTCCTAATCTGGAT 0.438000 3 25 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9046044 9046044 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:9046044G>A uc002mkp.3 - 4 35791 c.35587C>T c.(35587-35589)Cca>Tca p.P11863S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11865 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 GTTGAAGTTGGAATCATTGTG 0.483000 51 81 0 0 0.003610 0 0 C15orf55 256646 broad.mit.edu 37 15 34647840 34647840 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:34647840G>A uc010ucc.2 + 7 2013 c.1631G>A c.(1630-1632)gGg>gAg p.G544E C15orf55_uc010ucd.2_Missense_Mutation_p.G534E|C15orf55_uc001zif.3_Missense_Mutation_p.G516E NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 516 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GGGCTTCAGGGGGCTGGGGGC 0.592000 T """BRD3, BRD4""" lethal midline carcinoma 93 59 0 0 0.003610 0 0 GDAP2 54834 broad.mit.edu 37 1 118426147 118426147 + Missense_Mutation SNP C T T rs148217136 by1000genomes TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:118426147C>T uc001ehf.3 - 10 1509 c.1210G>A c.(1210-1212)Gac>Aac p.D404N GDAP2_uc001ehg.3_Missense_Mutation_p.D404N NM_017686 NP_060156 Q9NXN4 GDAP2_HUMAN Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA. 404 CRAL-TRIO. p.S403P(1) kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) TTCAGGAAGTCGGAGTCCAGG 0.353000 2 19 0 0 0.003954 0 0 CDH5 1003 broad.mit.edu 37 16 66434765 66434765 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:66434765G>A uc002eom.4 + 10 1839 c.1683G>A c.(1681-1683)ggG>ggA p.G561G NM_001795 NP_001786 P33151 CADH5_HUMAN Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA. 561 Cadherin 5. 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 p.G561W(1) 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) CAGACAATGGGATGCCAAGTC 0.582000 61 68 0 0 0.003610 0 0 ANK1 286 broad.mit.edu 37 8 41525791 41525791 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:41525791C>T uc003xok.3 - 38 5472 c.5388G>A c.(5386-5388)gtG>gtA p.V1796V NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.V950V|ANK1_uc003xoi.3_Silent_p.V1796V|ANK1_uc003xoj.3_Silent_p.V1796V|ANK1_uc003xol.3_Silent_p.V1634V|ANK1_uc003xom.3_Silent_p.V1837V|ANK1_uc003xof.3_5'Flank|ANK1_uc011lcl.2_5'Flank|ANK1_uc003xod.3_5'Flank|ANK1_uc003xoc.3_5'Flank NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1796 55 kDa regulatory 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) TCACCTGCACCACTTGGGTGA 0.652000 59 19 0 0 0.002299 0 0 USP22 23326 broad.mit.edu 37 17 20921418 20921418 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:20921418C>A uc002gym.4 - 4 731 c.527G>T c.(526-528)cGt>cTt p.R176L USP22_uc002gyn.4_Missense_Mutation_p.R164L|USP22_uc002gyl.4_Missense_Mutation_p.R71L NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA. 176 cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GATCAGCCCACGCAGACCTGG 0.557000 37 41 1.04594e-18 1.35508e-18 0.006230 1 0 TRMT5 57570 broad.mit.edu 37 14 61442787 61442787 + Missense_Mutation SNP G A A rs143033104 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:61442787G>A uc001xff.4 - 3 941 c.850C>T c.(850-852)Cgt>Tgt p.R284C NM_020810 NP_065861 Q32P41 TRMT5_HUMAN Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA. 284 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GTAGACAGACGAGGATTCCAA 0.413000 53 48 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720391 140720391 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:140720391C>T uc003ljk.2 + 0 2038 c.1853C>T c.(1852-1854)tCg>tTg p.S618L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S618L NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 620 Cadherin 6. 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) GGACTCTTCTCGGTGGGTCTG 0.677000 3 53 0 0 0.003610 0 0 SLC26A7 115111 broad.mit.edu 37 8 92364064 92364064 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:92364064C>T uc003yez.3 + 9 1406 c.1167C>T c.(1165-1167)ttC>ttT p.F389F SLC26A7_uc003yex.3_Silent_p.F389F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.F389F NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 389 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTGCATTTTCGTCCTTATAG 0.353000 86 35 0 0 0.003755 0 0 OSBP2 23762 broad.mit.edu 37 22 31266542 31266542 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:31266542G>A uc003aiy.1 + 2 1084 c.980G>A c.(979-981)gGc>gAc p.G327D OSBP2_uc011ala.1_Missense_Mutation_p.G162D|OSBP2_uc010gwc.1_Missense_Mutation_p.G154D|OSBP2_uc003aix.1_Missense_Mutation_p.G327D|OSBP2_uc011alb.1_Missense_Mutation_p.G327D|OSBP2_uc003aiz.1_Missense_Mutation_p.G327D|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.2_Missense_Mutation_p.G69D NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 327 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GCCAAGCACGGCGCTGCACTC 0.592000 32 25 0 0 0.007291 0 0 SYT9 143425 broad.mit.edu 37 11 7324437 7324437 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:7324437G>A uc001mfe.3 + 1 550 c.313G>A c.(313-315)Gag>Aag p.E105K SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 105 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CATGGACACAGAGACCAATGA 0.557000 27 47 0 0 0.003214 0 0 NFIL3 4783 broad.mit.edu 37 9 94172146 94172146 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:94172146C>T uc022bjt.1 - 0 871 c.871G>A c.(871-873)Gag>Aag p.E291K NFIL3_uc004arh.3_Missense_Mutation_p.E291K NM_005384 NP_005375 Q16649 NFIL3_HUMAN Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA. 291 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 ACCTGTTGCTCGTCTTCTCCA 0.522000 11 111 0 0 0.003610 0 0 PDIA4 9601 broad.mit.edu 37 7 148703064 148703064 + Missense_Mutation SNP C T T rs150817731 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:148703064C>T uc003wff.2 - 7 1495 c.1213G>A c.(1213-1215)Gat>Aat p.D405N NM_004911 NP_004902 P13667 PDIA4_HUMAN Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA. 405 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CGCTTAGCATCGTTTGACACC 0.592000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 111 37 0 0 0.007835 0 0 CYYR1 116159 broad.mit.edu 37 21 27852695 27852695 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:27852695A>G uc002yme.3 - 2 552 c.230T>C c.(229-231)aTt>aCt p.I77T CYYR1_uc002ymd.3_Missense_Mutation_p.I77T|CYYR1_uc011ack.2_Non-coding_Transcript NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 77 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 AATCCCAGCAATGACCCCCAT 0.468000 63 54 0 0 0.003610 0 0 OR2A14 135941 broad.mit.edu 37 7 143826896 143826896 + Nonsense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:143826896G>T uc011kua.2 + 0 691 c.691G>T c.(691-693)Gag>Tag p.E231* NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA. 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CCAGTCTGGGGAGGGCCGCAG 0.617000 175 72 5.98616e-33 7.78423e-33 0.003610 1 0 TEAD4 7004 broad.mit.edu 37 12 3129827 3129827 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:3129827C>T uc010sej.2 + 8 903 c.611C>T c.(610-612)cCa>cTa p.P204L TEAD4_uc010sek.2_Missense_Mutation_p.P161L|TEAD4_uc001qln.3_Missense_Mutation_p.P75L NM_201443 NP_958851 Q15561 TEAD4_HUMAN Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA. 204 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.A203T(1) endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GGGCCCGCCCCATCGCCCTCT 0.667000 54 41 0 0 0.002222 0 0 ZNF793 390927 broad.mit.edu 37 19 38023299 38023299 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:38023299A>C uc010efm.3 + 5 499 c.57A>C c.(55-57)caA>caC p.Q19H ZNF793_uc010xts.2_Missense_Mutation_p.Q19H NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCTTCACCCAAGAGGAGTGGC 0.493000 19 9 0 0 0.004482 0 0 CPAMD8 27151 broad.mit.edu 37 19 17115143 17115143 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:17115143A>G uc002nfb.3 - 7 786 c.754T>C c.(754-756)Ttc>Ctc p.F252L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 205 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 ACAAAAATGAACCATTCTCCC 0.478000 65 20 0 0 0.002780 0 0 APOB 338 broad.mit.edu 37 2 21251370 21251370 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:21251370G>A uc002red.3 - 12 1786 c.1658C>T c.(1657-1659)tCt>tTt p.S553F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 553 Vitellogenin. 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) ATCTCCCGGAGAAGCATCATC 0.453000 255 209 0 0 0.003610 0 0 GCLC 2729 broad.mit.edu 37 6 53387244 53387244 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:53387244G>A uc003pbw.2 - 1 716 c.232C>T c.(232-234)Ctg>Ttg p.L78L GCLC_uc021zau.1_Silent_p.L78L|GCLC_uc003pbx.3_Silent_p.L78L NM_001498 NP_001489 P48506 GSH1_HUMAN Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA. 78 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TTCTCTTGCAGAGTTTCAAGA 0.373000 95 42 0 0 0.003610 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536749 5536749 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:5536749G>A uc001maz.4 - 0 1208 c.923C>T c.(922-924)tCt>tTt p.S308F HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 308 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TGGGGGTGAAGACTGGACTTG 0.488000 52 27 0 0 0.006320 0 0 SEPP1 6414 broad.mit.edu 37 5 42808288 42808288 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:42808288T>C uc011cps.2 - 2 356 c.258A>G c.(256-258)caA>caG p.Q86Q SEPP1_uc011cpt.2_Silent_p.Q56Q|SEPP1_uc011cpu.2_Silent_p.Q56Q|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 56 response to oxidative stress extracellular region selenium binding p.S85Y(1) kidney(10)|large_intestine(1)|lung(4) 15 ATCAGCTGGCTTGAAGAAGAG 0.443000 70 40 0 0 0.003214 0 0 SLC4A10 57282 broad.mit.edu 37 2 162730517 162730517 + Splice_Site SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:162730517T>C uc002ubx.4 + 8 1132 c.948_splice c.e8+2 p.E316_splice SLC4A10_uc010fpa.1_Splice_Site_p.E328_splice|SLC4A10_uc010zcr.1_Splice_Site|SLC4A10_uc010zcs.2_Intron|SLC4A10_uc002uby.4_Intron NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 316 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GAGAGAGAGGTGAGGGCATAC 0.473000 6 10 0 0 0.008291 0 0 MYH7 4625 broad.mit.edu 37 14 23891496 23891496 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:23891496C>T uc001wjx.3 - 24 3244 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1046 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) GCTCCAGGTCCATGCGCACCT 0.577000 51 46 0 0 0.003610 0 0 PTPN23 25930 broad.mit.edu 37 3 47454654 47454654 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:47454654C>T uc003crf.1 + 24 4986 c.4890C>T c.(4888-4890)ctC>ctT p.L1630L PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.L1500L|BC067356_uc003cri.3_5'Flank NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA. 1630 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGATCCACTCTGGACACTCA 0.567000 7 58 0 0 0.003610 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627172 108627172 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:108627172A>T uc002tdv.3 + 8 1874 c.1598A>T c.(1597-1599)aAa>aTa p.K533I SLC5A7_uc010ywm.2_Missense_Mutation_p.K286I|SLC5A7_uc010fjj.3_Missense_Mutation_p.K533I|SLC5A7_uc010ywn.2_Missense_Mutation_p.K420I NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 533 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ATTCTTGTCAAAAATGAAAAT 0.368000 26 15 0 0 0.004007 0 0 PDE1A 5136 broad.mit.edu 37 2 183066463 183066463 + Missense_Mutation SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:183066463T>G uc002uos.3 - 9 1088 c.1004A>C c.(1003-1005)cAc>cCc p.H335P PDE1A_uc010zfp.1_Missense_Mutation_p.H231P|PDE1A_uc002uoq.1_Missense_Mutation_p.H335P|PDE1A_uc010zfq.1_Missense_Mutation_p.H335P|PDE1A_uc002uor.3_Missense_Mutation_p.H319P|PDE1A_uc002uou.3_Missense_Mutation_p.H301P NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 335 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ttgctggaAGTGACCTGACAT 0.353000 18 16 0 0 0.003163 0 0 DDN 23109 broad.mit.edu 37 12 49392428 49392428 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:49392428G>A uc001rsv.1 - 1 249 c.231C>T c.(229-231)tcC>tcT p.S77S NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 77 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 GCGGCTGTGGGGATCCCGGGC 0.736000 7 9 0 0 0.004482 0 0 HMP19 51617 broad.mit.edu 37 5 173531309 173531309 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:173531309G>A uc003mcx.3 + 3 437 c.292G>A c.(292-294)Gat>Aat p.D98N HMP19_uc011dfh.2_Missense_Mutation_p.M1I NM_015980 NP_057064 Q9Y328 NSG2_HUMAN Homo sapiens HMP19 protein (HMP19), mRNA. 98 dopamine receptor signaling pathway Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1) 15 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTTCACCTATGATCACAGCTG 0.468000 48 35 0 0 0.004878 0 0 PEAK1 79834 broad.mit.edu 37 15 77450944 77450944 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:77450944T>C uc021sqy.1 - 5 3808 c.3232A>G c.(3232-3234)Aca>Gca p.T1078A PEAK1_uc002bcn.2_Missense_Mutation_p.T1078A NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 1078 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GACAATGCTGTTGTGACTGAA 0.468000 52 37 0 0 0.004878 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670039 44670039 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:44670039G>A uc010zxl.1 + 7 1071 c.995G>A c.(994-996)gGa>gAa p.G332E SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309E NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 332 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) GCTTGGGAAGGAAATGAGACG 0.552000 54 38 0 0 0.005524 0 0 KYNU 8942 broad.mit.edu 37 2 143676226 143676226 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:143676226G>A uc010fnm.3 + 3 434 c.218G>A c.(217-219)gGa>gAa p.G73E KYNU_uc002tvk.3_Missense_Mutation_p.G73E|KYNU_uc002tvl.3_Missense_Mutation_p.G73E NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 73 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TATTTCTTGGGAAATTCTCTT 0.279000 34 18 0 0 0.007413 0 0 FOXG1 2290 broad.mit.edu 37 14 29237835 29237835 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:29237835C>T uc001wqe.3 + 0 1549 c.1350C>T c.(1348-1350)acC>acT p.T450T NM_005249 NP_005240 P55316 FOXG1_HUMAN Homo sapiens forkhead box G1 (FOXG1), mRNA. 450 QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCCCCTCGACCCTGCCCTGTG 0.582000 46 26 0 0 0.003330 0 0 ABCA13 154664 broad.mit.edu 37 7 48522729 48522729 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:48522729G>A uc003toq.2 + 46 13175 c.13151G>A c.(13150-13152)gGa>gAa p.G4384E ABCA13_uc010kys.1_Missense_Mutation_p.G1459E|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.G114E NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4384 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GGTGCAAATGGAAACATATCA 0.353000 22 15 0 0 0.003163 0 0 FAM127C 441518 broad.mit.edu 37 X 134156473 134156473 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:134156473T>C uc004eyc.1 - 0 94 c.17A>G c.(16-18)cAg>cGg p.Q6R NM_001078173 NP_001071641 Q17RB0 F127C_HUMAN Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA. 6 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) CTTCATCAGCTGCACTCGACC 0.687000 46 29 0 0 0.001786 0 0 SSTR4 6754 broad.mit.edu 37 20 23016462 23016462 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:23016462C>T uc002wsr.2 + 0 406 c.342C>T c.(340-342)ttC>ttT p.F114F NM_001052 NP_001043 P31391 SSR4_HUMAN Homo sapiens somatostatin receptor 4 (SSTR4), mRNA. 114 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACTGGCCCTTCGGCTCCGTGC 0.662000 65 75 0 0 0.003610 0 0 XPO6 23214 broad.mit.edu 37 16 28128740 28128740 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:28128740A>G uc002dpa.1 - 14 2404 c.1903T>C c.(1903-1905)Tta>Cta p.L635L XPO6_uc002dpb.1_Silent_p.L621L|XPO6_uc010vcp.1_Silent_p.L635L NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 635 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 TACTGTGCTAACCAGTGAGAG 0.458000 72 42 0 0 0.002522 0 0 SVEP1 79987 broad.mit.edu 37 9 113228145 113228145 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:113228145C>T 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 CTTTGATAACCTCCACATGCA 0.423000 0 5 0 0 0.000602 0 0 SLC44A3 126969 broad.mit.edu 37 1 95290158 95290158 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:95290158C>T uc001dqv.4 + 2 352 c.245C>T c.(244-246)gCc>gTc p.A82V SLC44A3_uc001dqx.4_Missense_Mutation_p.A82V|SLC44A3_uc010otq.2_Missense_Mutation_p.A46V|SLC44A3_uc010otr.2_Missense_Mutation_p.A46V|SLC44A3_uc001dqw.4_Missense_Mutation_p.A34V|SLC44A3_uc010ots.2_Missense_Mutation_p.A34V|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Missense_Mutation_p.A34V|SLC44A3_uc010otu.1_5'Flank NM_001114106 NP_689582 Q8N4M1 CTL3_HUMAN Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA. 82 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) GTGGAAGGGGCCCCTCTTTCA 0.488000 5 60 0 0 0.003610 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507419 74507419 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:74507419C>T uc001dfy.4 - 6 1388 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 399 p.R399R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 CCGCTCCAATCGTATGTCTTT 0.343000 3 43 0 0 0.007835 0 0 OR10G7 390265 broad.mit.edu 37 11 123908973 123908973 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:123908973C>T uc001pzq.1 - 0 736 c.736G>A c.(736-738)Gtg>Atg p.V246M NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CAAAGGACCACGATACAGTGG 0.567000 4 12 0 0 0.000978 0 0 TRPC3 7222 broad.mit.edu 37 4 122820791 122820791 + Silent SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:122820791A>T uc003ieg.2 - 9 2597 c.2523T>A c.(2521-2523)atT>atA p.I841I TRPC3_uc010inr.2_Silent_p.I713I|TRPC3_uc003ief.2_Silent_p.I768I|TRPC3_uc011cgl.1_Silent_p.I505I NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 756 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity 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 GCTGATTGAGAATGCTGTTAA 0.348000 35 31 0 0 0.007835 0 0 OR8K5 219453 broad.mit.edu 37 11 55926983 55926983 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:55926983C>T uc010rja.2 - 0 811 c.811G>A c.(811-813)Gat>Aat p.D271N NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T270N(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GCCATTTTATCAGTATCAAAG 0.398000 17 32 0 0 0.001786 0 0 SMC1B 27127 broad.mit.edu 37 22 45804690 45804690 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:45804690C>T uc003bgc.3 - 1 251 c.199G>A c.(199-201)Gga>Aga p.G67R SMC1B_uc003bgd.3_Missense_Mutation_p.G67R|SMC1B_uc003bge.1_5'Flank NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 67 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATATGTGCTCCATGAATGAGT 0.343000 72 40 0 0 0.006999 0 0 CUTC 51076 broad.mit.edu 37 10 101496042 101496042 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:101496042C>T uc001kqd.4 + 1 249 c.101C>T c.(100-102)tCa>tTa p.S34L CUTC_uc010qpk.2_Missense_Mutation_p.S34L|CUTC_uc001kqe.4_Non-coding_Transcript NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA. 34 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) TGTGTTGATTCAGTGGAATCA 0.393000 5 37 0 0 0.008740 0 0 RASA3 22821 broad.mit.edu 37 13 114758001 114758001 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:114758001G>A uc001vui.3 - 21 2336 c.2205C>T c.(2203-2205)tcC>tcT p.S735S RASA3_uc010tkk.2_Silent_p.S703S|RASA3_uc001vuj.3_Silent_p.S352S NM_007368 NP_031394 Q14644 RASA3_HUMAN Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA. 735 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|calcium-release channel activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AGTTGAAGAGGGAGTAGATAC 0.572000 21 32 0 0 0.005524 0 0 DSCAML1 57453 broad.mit.edu 37 11 117647624 117647624 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:117647624C>T uc001prh.1 - 2 575 c.573G>A c.(571-573)gtG>gtA p.V191V DSCAML1_uc001pri.1_5'UTR NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 131 Ig-like C2-type 2. 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.R190R(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) TTTGATCCTCCACCCGGACGG 0.527000 3 21 0 0 0.003330 0 0 STAT2 6773 broad.mit.edu 37 12 56743038 56743038 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:56743038G>A uc001slc.3 - 15 1552 c.1349C>T c.(1348-1350)aCc>aTc p.T450I STAT2_uc001slb.3_5'UTR|STAT2_uc001sld.3_Missense_Mutation_p.T446I|STAT2_uc010sqn.2_Intron NM_005419 NP_005410 P52630 STAT2_HUMAN Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA. 450 JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CACAGGGAGGGTGTCCGTCTG 0.512000 48 25 0 0 0.003954 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688735 26688735 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:26688735G>A uc003acb.3 + 1 654 c.458G>A c.(457-459)gGc>gAc p.G153D SEZ6L_uc003acd.3_Missense_Mutation_p.G153D|SEZ6L_uc011akd.2_Missense_Mutation_p.G153D|SEZ6L_uc003ace.3_Missense_Mutation_p.G153D|SEZ6L_uc011akc.2_Missense_Mutation_p.G153D|SEZ6L_uc003acc.3_Missense_Mutation_p.G153D|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 153 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 GCGTCCCAGGGCCTAGATCTC 0.667000 30 25 0 0 0.005443 0 0 MYH15 22989 broad.mit.edu 37 3 108107893 108107893 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:108107893C>T uc003dxa.1 - 38 5576 c.5519G>A c.(5518-5520)gGt>gAt p.G1840D NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1840 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ACGGATTTCACCCTCCAGTTC 0.537000 86 36 0 0 0.006230 0 0 DOHH 83475 broad.mit.edu 37 19 3496633 3496633 + Nonsense_Mutation SNP G C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:3496633G>C uc002lxs.3 - 1 343 c.180C>G c.(178-180)taC>taG p.Y60* DOHH_uc010xhl.2_Nonsense_Mutation_p.Y60* NM_031304 NP_112594 Q9BU89 DOHH_HUMAN Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA. 60 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCCAGGCAGTAGGCCAGCT 0.667000 31 20 0 0 0.001523 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169663597 169663597 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:169663597G>A uc011bpp.2 - 1 c.4206C>T Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. TTTAAAGAGGGGAAAGACCAC 0.428000 6 13 0 0 0.001368 0 0 PSG4 5672 broad.mit.edu 37 19 43708384 43708384 + Nonsense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:43708384C>T uc002ovy.3 - 1 186 c.84G>A c.(82-84)tgG>tgA p.W28* PSG4_uc002ovz.3_Nonsense_Mutation_p.W28*|PSG4_uc002owb.3_Nonsense_Mutation_p.W28* NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 28 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TGGGCGGATTCCAGAAGTTTA 0.463000 44 79 0 0 0.003610 0 0 MXRA5 25878 broad.mit.edu 37 X 3229252 3229252 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:3229252C>T uc004crg.4 - 6 7149 c.6992G>A c.(6991-6993)gGg>gAg p.G2331E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2331 Ig-like C2-type 7. 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) CTCGTCCTTCCCGACCTGATT 0.537000 8 84 0 0 0.003610 0 0 REG1P 5969 broad.mit.edu 37 2 79363190 79363190 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:79363190G>A uc002soa.1 - 3 c.1124C>T REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds. CTACTCCACTGATAATGGCAG 0.522000 20 7 0 0 0.004482 0 0 CNGB3 54714 broad.mit.edu 37 8 87616331 87616331 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:87616331C>T uc003ydx.3 - 14 1819 c.1771G>A c.(1771-1773)Gga>Aga p.G591R CNGB3_uc010maj.3_Intron NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 591 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CTGATTTCTCCAAACACCGAC 0.383000 19 11 0 0 0.001855 0 0 TPCN1 53373 broad.mit.edu 37 12 113716033 113716033 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:113716033G>A uc001tux.3 + 13 1614 c.1440G>A c.(1438-1440)ttG>ttA p.L480L TPCN1_uc001tuw.3_Silent_p.L408L|TPCN1_uc010syt.1_Silent_p.L340L NM_001143819 NP_060371 Q9ULQ1 TPC1_HUMAN Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA. 408 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TTGCTGCTTTGAAGTGGAAGG 0.473000 72 16 0 0 0.008871 0 0 RSPH1 89765 broad.mit.edu 37 21 43897453 43897453 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:43897453G>A uc002zbg.3 - 6 780 c.675C>T c.(673-675)ccC>ccT p.P225P NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA. 225 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TCGGCTTTTTGGGGAGAGTTG 0.562000 55 38 0 0 0.006230 0 0 CDH18 1016 broad.mit.edu 37 5 19503104 19503104 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:19503104C>T uc003jgd.3 - 10 2161 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K CDH18_uc011cnm.2_Missense_Mutation_p.E543K|CDH18_uc003jgc.3_Missense_Mutation_p.E543K|CDH18_uc021xwu.1_Missense_Mutation_p.E543K NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 543 Cadherin 5. 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) TGTTCACCTTCATTGTCCTTC 0.353000 44 23 0 0 0.003330 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118335 118335 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrGL000205.1:118335G>A uc002kgk.4 + 0 c.1713G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTGGCTCCAGGAGGACTTCTG 0.542000 48 4 0 0 0.000248 0 0 FAT4 79633 broad.mit.edu 37 4 126372388 126372388 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:126372388T>C uc003ifj.4 + 8 10217 c.10217T>C c.(10216-10218)cTa>cCa p.L3406P FAT4_uc011cgp.2_Missense_Mutation_p.L1704P|FAT4_uc003ifi.1_Missense_Mutation_p.L884P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3406 Cadherin 33. 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 ATTTTTACTCTAAACATCTAC 0.473000 49 27 0 0 0.005443 0 0 ZNF768 79724 broad.mit.edu 37 16 30536353 30536353 + Nonsense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:30536353C>A uc002dyk.4 - 1 1284 c.1108G>T c.(1108-1110)Gag>Tag p.E370* ZNF768_uc010vex.2_Nonsense_Mutation_p.E339*|ZNF768_uc010vew.2_Nonsense_Mutation_p.E339* NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN Homo sapiens zinc finger protein 768 (ZNF768), mRNA. 370 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TAGGGCCGCTCGTGGCTGTGG 0.642000 37 20 1.10923e-09 1.42133e-09 0.002780 1 0 ATP10D 57205 broad.mit.edu 37 4 47538884 47538884 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:47538884C>T uc003gxk.1 + 8 1489 c.1325C>T c.(1324-1326)aCc>aTc p.T442I ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.T427I NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 442 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 AAGACAGGAACCCTCACTGAG 0.428000 28 9 0 0 0.004482 0 0 ZFP2 80108 broad.mit.edu 37 5 178359231 178359231 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:178359231C>T uc003mjn.1 + 4 1426 c.917C>T c.(916-918)tCc>tTc p.S306F ZFP2_uc010jky.2_Missense_Mutation_p.S306F|ZFP2_uc010jkx.1_Missense_Mutation_p.S306F|ZFP2_uc021yjb.1_Missense_Mutation_p.S306F NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA. 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TGCGGGAAATCCTTTAGCCAA 0.368000 39 33 0 0 0.004289 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77216262 77216262 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:77216262C>T uc001syk.1 + 7 1011 c.848C>T c.(847-849)gCa>gTa p.A283V ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA. 283 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 GCAAGGCAAGCAAAAGGATAT 0.353000 9 26 0 0 0.006320 0 0 SORL1 6653 broad.mit.edu 37 11 121478879 121478880 + Missense_Mutation DNP GG AT AT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:121478879_121478880GG>AT uc001pxx.3 + 37 5362_5363 c.5233_5234GG>AT c.(5233-5235)gga>ATa p.G1745I SORL1_uc010rzp.1_Missense_Mutation_p.G591I|SORL1_uc010rzq.1_Missense_Mutation_p.G360I NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1745 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) CACCATAAAAGGAAAAGGTAAA 0.366000 1 11 0 0 0.004672 0 0 CFH 3075 broad.mit.edu 37 1 196874340 196874340 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:196874340G>A uc001gtp.3 + 2 496 c.359G>A c.(358-360)gGa>gAa p.G120E CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G119E|CFH_uc001gto.3_Intron NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 480 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGTAAACCAGGATATGCAACA 0.303000 55 33 0 0 0.003271 0 0 SVEP1 79987 broad.mit.edu 37 9 113198727 113198727 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:113198727G>A uc010mtz.3 - 27 5034 c.4697C>T c.(4696-4698)cCa>cTa p.P1566L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1566 Pentaxin. 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 AGACTCAGCTGGGCTGAATCC 0.483000 4 37 0 0 0.004878 0 0 CA2 760 broad.mit.edu 37 8 86386594 86386594 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:86386594G>A uc003ydk.2 + 3 573 c.393G>A c.(391-393)ggG>ggA p.G131G NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 131 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GGGATTTTGGGAAAGCTGTGC 0.393000 141 45 0 0 0.003610 0 0 MYH8 4626 broad.mit.edu 37 17 10296153 10296153 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:10296153C>T uc002gmm.2 - 36 5553 c.5458G>A c.(5458-5460)Gcc>Acc p.A1820T AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1820 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCCACCCTGGCCTCCAGTTTC 0.557000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 64 79 0 0 0.003610 0 0 PRB3 5544 broad.mit.edu 37 12 11422583 11422583 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:11422583C>T uc001qzs.3 - 0 59 c.21G>A c.(19-21)tcG>tcA p.S7S PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 7 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GCAGGGCCACCGACAGCAGAA 0.532000 32 32 0 0 0.005524 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911637 39911637 + Splice_Site SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:39911637G>A uc010xuz.2 + 14 1772 c.1447_splice c.e14+1 p.E483_splice PLEKHG2_uc010xuy.2_Splice_Site_p.E424_splice|PLEKHG2_uc002olj.3_Splice_Site_p.E483_splice|PLEKHG2_uc010xva.2_Intron NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 483 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGCAGTCTGGTGAGCACTCA 0.657000 18 22 0 0 0.003330 0 0 ITGAD 3681 broad.mit.edu 37 16 31429405 31429405 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:31429405C>T uc010cap.1 + 20 2561 c.2512C>T c.(2512-2514)Cat>Tat p.H838Y ITGAD_uc002ebv.1_Missense_Mutation_p.H837Y NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 837 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GAAGCAGCCCCATCAGAGTGC 0.557000 61 45 0 0 0.003610 0 0 OR8H3 390152 broad.mit.edu 37 11 55890126 55890126 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:55890126C>T uc001nii.1 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AACTATATTTCCTTCACGGGC 0.423000 227 102 0 0 0.003610 0 0 SLC7A2 6542 broad.mit.edu 37 8 17401213 17401213 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:17401213C>T uc011kye.2 + 1 533 c.485C>T c.(484-486)tCg>tTg p.S162L SLC7A2_uc011kyc.2_Missense_Mutation_p.S122L|SLC7A2_uc011kyd.2_Missense_Mutation_p.S162L 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. 122 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) CTCATTTTATCGTATGTGATA 0.478000 32 19 0 0 0.008871 0 0 DUSP27 92235 broad.mit.edu 37 1 167097616 167097616 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:167097616G>A uc001geb.1 + 4 3264 c.3248G>A c.(3247-3249)gGa>gAa p.G1083E NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 1083 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TCTGAATTTGGAGCCAAGAGG 0.512000 4 36 0 0 0.004289 0 0 CAD 790 broad.mit.edu 37 2 27447254 27447254 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:27447254C>T uc002rji.3 + 8 1312 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S CAD_uc010eyw.3_Missense_Mutation_p.P384S NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 384 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.P384P(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCCTGGGATTCCCACTCCCGG 0.572000 70 58 0 0 0.003610 0 0 TMEM30A 55754 broad.mit.edu 37 6 75965893 75965893 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:75965893G>A uc003phw.2 - 6 1289 c.1011C>T c.(1009-1011)ttC>ttT p.F337F TMEM30A_uc003phx.2_Silent_p.F301F NM_018247 NP_060717 Q9NV96 CC50A_HUMAN Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA. 337 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTCCCAGAAGGAAGGAGATGG 0.353000 2 27 0 0 0.003954 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038894 17038894 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:17038894A>G uc002nfb.3 - 24 3468 c.3436T>C c.(3436-3438)Tac>Cac p.Y1146H NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1099 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 GCCTCGCTGTAGCTCTCGTCC 0.637000 70 19 0 0 0.006122 0 0 MYLIP 29116 broad.mit.edu 37 6 16145501 16145501 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:16145501C>T uc003nbq.3 + 5 1438 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S MYLIP_uc003nbr.3_Missense_Mutation_p.P220S NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA. 401 cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CACCTTCTGTCCCTGTGGCCA 0.607000 134 41 0 0 0.008740 0 0 ZNF607 84775 broad.mit.edu 37 19 38200705 38200705 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:38200705C>T uc002ohc.2 - 2 624 c.28G>A c.(28-30)Gat>Aat p.D10N ZNF607_uc002ohb.2_Missense_Mutation_p.D10N NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ATGGCCACATCCCCGAATGTT 0.488000 28 20 0 0 0.002299 0 0 GPR158 57512 broad.mit.edu 37 10 25887673 25887673 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:25887673C>T uc001isj.3 + 10 3178 c.3118C>T c.(3118-3120)Ccc>Tcc p.P1040S GPR158_uc001isk.3_Missense_Mutation_p.P415S NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1040 integral to membrane|plasma membrane G-protein coupled receptor activity p.P1040T(2) 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 GGAGAAAAACCCCACTTTTTC 0.453000 10 30 0 0 0.001786 0 0 NLRP5 126206 broad.mit.edu 37 19 56538862 56538862 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:56538862C>T uc002qmj.3 + 6 1263 c.1263C>T c.(1261-1263)gtC>gtT p.V421V NLRP5_uc002qmi.3_Silent_p.V402V NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 421 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGTCAGAGGTCGTGTCTCCCC 0.547000 17 5 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9056224 9056224 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:9056224C>T uc002mkp.3 - 2 31426 c.31222G>A c.(31222-31224)Gga>Aga p.G10408R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10410 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 GTCACTGTTCCCAGCTCAACG 0.478000 160 62 0 0 0.003610 0 0 QSOX1 5768 broad.mit.edu 37 1 180165581 180165581 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:180165581C>T uc001gnz.3 + 11 1728 c.1653C>T c.(1651-1653)gcC>gcT p.A551A QSOX1_uc001gny.3_Silent_p.A551A|FLJ23867_uc001god.4_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA. 551 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGTCAGCTGCCCGGAGGGATG 0.617000 6 189 0 0 0.003610 0 0 ATP8A1 10396 broad.mit.edu 37 4 42524177 42524177 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:42524177C>T uc003gwr.2 - 22 2179 c.1947_splice c.e22+1 p.K649_splice ATP8A1_uc003gws.2_Splice_Site_p.K634_splice NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 649 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ATCCACGTACCTTTTCAATCA 0.403000 30 7 0 0 0.004482 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215708 20215708 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:20215708G>A uc010tkt.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L40L(3)|p.L40V(2) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTGTCCTGGGAAACCTCTTG 0.398000 206 80 0 0 0.003610 0 0 MAFIP 727764 broad.mit.edu 37 GL000194.1 53784 53784 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrGL000194.1:53784G>A uc021xvt.1 - 2 1977 c.238C>T c.(238-240)Cgc>Tgc p.R80C MAFIP_uc003jab.2_Non-coding_Transcript|MAFIP_uc011clu.2_3'UTR NM_001190825 NP_001177754 Q8WZ33 MAFIP_HUMAN Homo sapiens MAFF interacting protein (MAFIP), mRNA. 80 microtubule cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule|nucleolus TTGAGGTTGCGCAGGGACTGC 0.587000 2 3 0 0 0.000602 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56735102 56735102 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:56735102G>A uc002qmq.3 - 2 652 c.486C>T c.(484-486)tcC>tcT p.S162S ZSCAN5A_uc010ygi.2_Silent_p.S45S|ZSCAN5A_uc002qmr.3_Silent_p.S162S|ZSCAN5A_uc002qms.1_Silent_p.S162S NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 162 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CCCGTTGGCTGGACACGTCTT 0.587000 49 19 0 0 0.007413 0 0 RFXANK 8625 broad.mit.edu 37 19 19304785 19304785 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:19304785C>T uc002nls.3 + 2 535 c.30C>T c.(28-30)ctC>ctT p.L10L MEF2B_uc002nlp.2_5'Flank|MEF2B_uc010xqp.1_5'Flank|MEF2B_uc002nlo.2_5'Flank|MEF2BNB_uc002nlq.3_5'Flank|MEF2BNB_uc002nlr.4_5'Flank|MEF2B_uc010ecb.2_5'Flank|RFXANK_uc002nlt.3_Silent_p.L10L|RFXANK_uc002nlu.3_Silent_p.L10L|RFXANK_uc002nlv.3_Silent_p.L10L|RFXANK_uc021uqt.1_Silent_p.L10L NM_003721 NP_003712 O14593 RFXK_HUMAN Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA. 10 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1) 14 Epithelial(12;0.00228) CAGAAGACCTCATCCAGACCC 0.537000 121 161 0 0 0.003610 0 0 PTPRC 5788 broad.mit.edu 37 1 198701444 198701444 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:198701444T>C uc001gur.1 + 18 2164 c.1984T>C c.(1984-1986)Ttc>Ctc p.F662L PTPRC_uc001gut.1_Missense_Mutation_p.F501L|PTPRC_uc009wzf.1_Missense_Mutation_p.F550L|PTPRC_uc021pgy.1_Missense_Mutation_p.F616L|PTPRC_uc010ppg.1_Missense_Mutation_p.F598L NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 662 Tyrosine-protein phosphatase 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCCGCGGGTGTTCAGCAAGTT 0.393000 32 27 0 0 0.002096 0 0 FGFR2 2263 broad.mit.edu 37 10 123256163 123256163 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:123256163G>A uc021pzz.1 - 12 2393 c.1746C>T c.(1744-1746)ccC>ccT p.P582P FGFR2_uc021pzv.1_Silent_p.P470P|FGFR2_uc021pzw.1_Silent_p.P467P|FGFR2_uc021pzx.1_Silent_p.P493P|FGFR2_uc021pzy.1_Silent_p.P583P|FGFR2_uc010qtl.2_Silent_p.P466P|FGFR2_uc010qtm.2_Silent_p.P465P|FGFR2_uc021qaa.1_Silent_p.P583P|FGFR2_uc021qab.1_Silent_p.P494P|FGFR2_uc021qac.1_Silent_p.P511P|FGFR2_uc001lfg.4_Silent_p.P190P NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 582 Protein kinase. 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) ACTCCATCCCGGGTGGCCTCC 0.537000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 11 122 0 0 0.003610 0 0 GPX6 257202 broad.mit.edu 37 6 28474159 28474159 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:28474159A>T uc021yrx.1 - 2 339 c.289T>A c.(289-291)Ttg>Atg p.L97M GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 97 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) GGAAAGGCCAACACAATGACA 0.483000 44 89 0 0 0.003610 0 0 SRL 6345 broad.mit.edu 37 16 4254547 4254547 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:4254547G>A uc002cvz.4 - 1 163 c.150C>T c.(148-150)tcC>tcT p.S50S SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 509 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.S50S(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGTAGTCATCGGATGGCTTGT 0.602000 69 62 0 0 0.003610 0 0 FZR1 51343 broad.mit.edu 37 19 3523026 3523026 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:3523026C>T uc010dtk.2 + 0 73 c.39C>T c.(37-39)atC>atT p.I13I FZR1_uc002lxt.2_Silent_p.I13I|FZR1_uc002lxv.2_Silent_p.I13I NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 13 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TTCGCCAGATCGTCATCCAGA 0.687000 50 65 0 0 0.003610 0 0 DSG3 1830 broad.mit.edu 37 18 29038468 29038468 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:29038468G>A uc002kws.3 + 3 386 c.277G>A c.(277-279)Gat>Aat p.D93N NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 93 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTGGGAATCGATCAGCCGCC 0.443000 31 48 0 0 0.003610 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083465 6083465 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:6083465C>T uc010idb.1 - 5 1458 c.972G>A c.(970-972)gaG>gaA p.E324E JAKMIP1_uc010idc.1_Silent_p.E159E|JAKMIP1_uc010idd.1_Silent_p.E324E|JAKMIP1_uc003giu.4_Silent_p.E324E|JAKMIP1_uc011bwc.2_Silent_p.E159E|JAKMIP1_uc003giv.4_Silent_p.E324E|JAKMIP1_uc010ide.3_Silent_p.E324E NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 324 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GAACCTCGGTCTCTCGTGAGC 0.532000 24 62 0 0 0.003610 0 0 ABP1 26 broad.mit.edu 37 7 150556125 150556125 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:150556125C>T uc003why.1 + 3 6063 c.1845C>T c.(1843-1845)atC>atT p.I615I ABP1_uc003whz.1_Silent_p.I615I|ABP1_uc003wia.1_Silent_p.I615I NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 615 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) AGCAGGCCATCACCTGGGCAA 0.642000 29 25 0 0 0.003954 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627195 108627195 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:108627195G>A uc002tdv.3 + 8 1897 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K SLC5A7_uc010ywm.2_Missense_Mutation_p.E294K|SLC5A7_uc010fjj.3_Missense_Mutation_p.E541K|SLC5A7_uc010ywn.2_Missense_Mutation_p.E428K NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 541 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TAAATTAGATGAACTTGCACT 0.398000 21 10 0 0 0.008291 0 0 PIK3CD 5293 broad.mit.edu 37 1 9783302 9783302 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:9783302C>T uc001aqe.4 + 18 2826 c.2618C>T c.(2617-2619)gCc>gTc p.A873V PIK3CD_uc001aqb.4_Missense_Mutation_p.A849V|PIK3CD_uc010oaf.2_Missense_Mutation_p.A848V|PIK3CD_uc021ogb.1_Missense_Mutation_p.A633V NM_005026 NP_005017 O00329 PK3CD_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA. 849 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GCCACAGCCGCCTTCAACAAG 0.587000 8 74 0 0 0.003610 0 0 OR2L13 284521 broad.mit.edu 37 1 248263527 248263527 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:248263527C>A uc001ids.3 + 2 1187 c.850C>A c.(850-852)Ctc>Atc p.L284I OR2L13_uc021pmc.1_Missense_Mutation_p.L284I NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TACCCCCATGCTCAATCCCAT 0.483000 70 12 5.50884e-06 7.00761e-06 0.001368 1 0 KIAA1328 57536 broad.mit.edu 37 18 34740253 34740253 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:34740253G>A uc002kzz.3 + 7 1345 c.1323G>A c.(1321-1323)agG>agA p.R441R KIAA1328_uc002lab.3_Silent_p.R193R|KIAA1328_uc002lac.1_Silent_p.R300R NM_020776 NP_065827 Q86T90 K1328_HUMAN Homo sapiens KIAA1328 (KIAA1328), mRNA. 441 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) GAGAGAATAGGAAGGAGAGGA 0.418000 26 19 0 0 0.007413 0 0 VAT1L 57687 broad.mit.edu 37 16 77850854 77850854 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:77850854G>A uc002ffg.1 + 1 367 c.270G>A c.(268-270)ggG>ggA p.G90G NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 90 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TGCGACAAGGGAATATTGACA 0.448000 43 34 0 0 0.003271 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335105 42335105 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:42335105G>A uc002igf.4 - 11 1502 c.1353C>T c.(1351-1353)ttC>ttT p.F451F SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 451 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCAGCAGGGCGAAGAGAATGC 0.592000 36 20 0 0 0.008871 0 0 BCL9L 283149 broad.mit.edu 37 11 118771389 118771389 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:118771389G>A uc001pug.3 - 5 4028 c.3063C>T c.(3061-3063)tcC>tcT p.S1021S BCL9L_uc009zal.3_Silent_p.S1016S NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 1021 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCTTGTTCTGGGAGACCCCCG 0.632000 6 33 0 0 0.006999 0 0 MTMR4 9110 broad.mit.edu 37 17 56582272 56582272 + Silent SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:56582272A>C uc002iwj.2 - 11 1277 c.1167T>G c.(1165-1167)gcT>gcG p.A389A NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 389 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) CCACCAGCACAGCTGCTTTTA 0.557000 39 40 0 0 0.005524 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085042 64085042 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:64085042G>A uc003dmf.3 - 7 2806 c.2220C>T c.(2218-2220)tcC>tcT p.S740S NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA. 740 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGTCCCTCCGGGACCCATGCC 0.597000 5 32 0 0 0.003271 0 0 VAT1L 57687 broad.mit.edu 37 16 78011529 78011529 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:78011529G>A uc002ffg.1 + 8 1294 c.1197G>A c.(1195-1197)ggG>ggA p.G399G NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 399 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GTGAAGCAGGGGAAGAGGAGG 0.522000 30 32 0 0 0.004289 0 0 DNMT1 1786 broad.mit.edu 37 19 10250421 10250421 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:10250421G>A uc002mng.3 - 32 4011 c.3831C>T c.(3829-3831)tcC>tcT p.S1277S DNMT1_uc002mnf.3_Silent_p.S201S|DNMT1_uc010xlc.2_Silent_p.S1293S|DNMT1_uc002mnh.3_Silent_p.S1172S|DNMT1_uc010xld.2_Silent_p.S1277S NM_001379 NP_001370 P26358 DNMT1_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. 1277 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCAGGACCATGGAGCGCTTGA 0.632000 11 23 0 0 0.002780 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158564 26158564 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:26158564C>A uc003ngr.3 + 0 216 c.167C>A c.(166-168)tCt>tAt p.S56Y HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S56Y NM_021063 NP_619790 P58876 H2B1D_HUMAN Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA. 56 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 ACCGGCATCTCTTCCAAGGCA 0.567000 121 197 3.44299e-84 4.51061e-84 0.003610 1 0 ANO1 55107 broad.mit.edu 37 11 69933967 69933967 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:69933967C>T uc001opj.3 + 1 523 c.218C>T c.(217-219)cCc>cTc p.P73L ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.P45L NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA. 73 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CACAAGAGGCCCTCGGGCAAC 0.652000 22 9 0 0 0.006214 0 0 CES1 1066 broad.mit.edu 37 16 55855329 55855329 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:55855329G>A uc002eim.3 - 4 749 c.641C>T c.(640-642)tCt>tTt p.S214F CES1_uc002eil.3_Missense_Mutation_p.S215F|CES1_uc002ein.3_Missense_Mutation_p.S214F NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 214 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) GATGGTCACAGAGCCTGGGTT 0.587000 64 31 0 0 0.002836 0 0 ELTD1 64123 broad.mit.edu 37 1 79358832 79358832 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:79358832G>A uc001diq.4 - 12 1948 c.1792C>T c.(1792-1794)Cgt>Tgt p.R598C NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 598 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.R598C(2) 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) GCAGTGTGACGAAAAACTTTG 0.299000 1 30 0 0 0.004878 0 0 SP6 80320 broad.mit.edu 37 17 45924926 45924926 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:45924926G>T uc002imh.1 - 1 1148 c.870C>A c.(868-870)ttC>ttA p.F290L SP6_uc002img.1_Missense_Mutation_p.F290L|SP6_uc021tzc.1_Missense_Mutation_p.F290L NM_199262 NP_954871 Q3SY56 SP6_HUMAN Homo sapiens Sp6 transcription factor (SP6), mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 GCTTGCCGCAGAAGAGCCAGT 0.662000 42 15 4.7546e-09 6.08497e-09 0.004007 1 0 YTHDF2 51441 broad.mit.edu 37 1 29069282 29069282 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:29069282G>A uc021okf.1 + 4 763 c.500G>A c.(499-501)gGa>gAa p.G167E YTHDF2_uc001brc.3_Missense_Mutation_p.G167E|YTHDF2_uc010ofx.2_Missense_Mutation_p.G117E|YTHDF2_uc001bre.3_Missense_Mutation_p.G117E NM_001173128 NP_001166299 Q9Y5A9 YTHD2_HUMAN Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA. 167 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) ATGATTGATGGACAGTCAGCT 0.468000 3 29 0 0 0.001786 0 0 C3orf15 89876 broad.mit.edu 37 3 119462963 119462963 + Missense_Mutation SNP C T T rs139653997 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:119462963C>T uc003ede.4 + 13 1899 c.1822C>T c.(1822-1824)Cgg>Tgg p.R608W C3orf15_uc010hqz.3_Missense_Mutation_p.R546W|C3orf15_uc011bjd.2_Missense_Mutation_p.R482W|C3orf15_uc011bje.2_Missense_Mutation_p.R588W NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 444 mitochondrion protein binding p.R608W(2)|p.R607G(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GCGCCAGCGGCGGGTACGAGA 0.587000 97 26 0 0 0.006320 0 0 SLC17A7 57030 broad.mit.edu 37 19 49937914 49937914 + Nonsense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:49937914C>T uc002pnp.3 - 4 754 c.582G>A c.(580-582)tgG>tgA p.W194* SLC17A7_uc002pnq.1_Nonsense_Mutation_p.W127*|SLC17A7_uc002pno.3_5'UTR NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 194 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 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;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CCCATTTGCTCCAGATCCCAT 0.592000 26 37 0 0 0.006230 0 0 KIF4B 285643 broad.mit.edu 37 5 154397004 154397004 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:154397004G>A uc010jih.1 + 0 3745 c.3585G>A c.(3583-3585)tcG>tcA p.S1195S NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 1195 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.S1195L(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCCCAGAGTCGAAACATGGAG 0.507000 1 15 0 0 0.004990 0 0 OAS1 4938 broad.mit.edu 37 12 113346461 113346461 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:113346461G>A uc001tuc.3 + 1 407 c.301G>A c.(301-303)Gaa>Aaa p.E101K OAS1_uc010syn.2_Missense_Mutation_p.E100K|OAS1_uc010syo.2_Missense_Mutation_p.E100K|OAS1_uc001tub.3_Missense_Mutation_p.E101K|OAS1_uc001tud.3_Missense_Mutation_p.E101K|OAS1_uc009zwf.3_Missense_Mutation_p.E100K NM_001032409 NP_001027581 P00973 OAS1_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA. 101 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GTTCATCCAGGAAATTAGGAG 0.552000 38 14 0 0 0.004990 0 0 PALMD 54873 broad.mit.edu 37 1 100155290 100155290 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:100155290G>A uc001dsg.3 + 6 1917 c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 492 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TAGTCCTCATGAAAACACAAA 0.463000 3 22 0 0 0.002780 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813600 100813600 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:100813600A>C uc010svi.2 + 11 1746 c.1433A>C c.(1432-1434)gAa>gCa p.E478A SLC17A8_uc009ztx.3_Missense_Mutation_p.E428A NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 478 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TAGACCCGTGAAGAATGGCAG 0.453000 72 26 0 0 0.007291 0 0 RIN2 54453 broad.mit.edu 37 20 19977443 19977443 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:19977443G>A uc002wro.2 + 10 2617 c.2468G>A c.(2467-2469)cGg>cAg p.R823Q RIN2_uc010gcu.2_Missense_Mutation_p.R341Q|RIN2_uc010gcv.2_Missense_Mutation_p.R568Q NM_001242581 NP_001229510 Q8WYP3 RIN2_HUMAN Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA. 774 Ras-associating. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TGGCACAAACGGAGAACCACC 0.557000 7 4 0 0 0.000248 0 0 TTN 7273 broad.mit.edu 37 2 179590695 179590695 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179590695G>A uc021vsy.1 - 66 16847 c.16622C>T c.(16621-16623)tCg>tTg p.S5541L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2202L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6468 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTGTTCCCGAAAGTTCACA 0.413000 35 26 0 0 0.004656 0 0 SHROOM3 57619 broad.mit.edu 37 4 77631396 77631396 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:77631396G>A uc011cbx.2 + 2 1364 c.411G>A c.(409-411)agG>agA p.R137R SHROOM3_uc011cbz.1_5'UTR NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 137 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 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) CCCAGCACAGGAAAGCAGCGT 0.542000 57 16 0 0 0.004990 0 0 AGGF1 55109 broad.mit.edu 37 5 76332530 76332530 + Silent SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:76332530T>G uc003ket.3 + 3 1048 c.666T>G c.(664-666)ggT>ggG p.G222G AGGF1_uc003keu.1_Non-coding_Transcript NM_018046 NP_060516 Q8N302 AGGF1_HUMAN Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA. 222 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) ACAGCACTGGTTTCTATTATG 0.423000 230 7 0 0 0.003080 0 0 FAM155A 728215 broad.mit.edu 37 13 108518107 108518107 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:108518107C>T uc001vql.3 - 0 1354 c.838G>A c.(838-840)Gaa>Aaa p.E280K NM_001080396 NP_001073865 B1AL88 F155A_HUMAN Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA. 280 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCAAACTCTTCGTATTTCTCC 0.527000 78 33 0 0 0.002096 0 0 SSTR2 6752 broad.mit.edu 37 17 71166318 71166318 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:71166318C>T uc002jje.3 + 1 1220 c.860C>T c.(859-861)aCc>aTc p.T287I SSTR2_uc021ucm.1_Missense_Mutation_p.T287I NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 287 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) ATCAGCCCCACCCCAGCCCTT 0.507000 60 51 0 0 0.003610 0 0 PRDM9 56979 broad.mit.edu 37 5 23523442 23523442 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:23523442G>A uc003jgo.3 + 8 1107 c.925G>A c.(925-927)Gat>Aat p.D309N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 309 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGATGGAAAAGATAAATCCTG 0.413000 HNSCC(3;0.000094) 66 39 0 0 0.003610 0 0 CEP170 9859 broad.mit.edu 37 1 243292732 243292732 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:243292732C>T uc021plo.1 - 17 4751 c.4343G>A c.(4342-4344)cGg>cAg p.R1448Q CEP170_uc021plp.1_Missense_Mutation_p.R1324Q|CEP170_uc021plq.1_Missense_Mutation_p.R1350Q|CEP170_uc001hzr.3_Missense_Mutation_p.R37Q|CEP170_uc001hzv.1_Missense_Mutation_p.R800Q NM_014812 NP_055627 Q5SW79 CE170_HUMAN Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA. 1448 Targeting to centrosomes.|Targeting to microtubules. centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ATCCCAATTCCGATCTTTGTC 0.264000 17 11 0 0 0.008291 0 0 ORC4 5000 broad.mit.edu 37 2 148731066 148731066 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:148731066A>T uc002twj.3 - 2 255 c.85T>A c.(85-87)Tgt>Agt p.C29S ORC4_uc021vqr.1_Missense_Mutation_p.C29S|ORC4_uc002twi.3_Missense_Mutation_p.C29S|ORC4_uc010zbo.2_5'UTR|ORC4_uc010zbq.2_Intron|ORC4_uc010zbp.2_5'UTR|ORC4_uc002twk.3_Missense_Mutation_p.C29S|ORC4_uc010zbr.2_Missense_Mutation_p.C29S NM_002552 NP_001177810 O43929 ORC4_HUMAN Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA. 29 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 nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 14 CTCTGACGACAAAATCTTTCA 0.308000 40 32 0 0 0.004878 0 0 EVI5L 115704 broad.mit.edu 37 19 7925473 7925473 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:7925473C>T uc010xjz.2 + 12 1448 c.1401C>T c.(1399-1401)ttC>ttT p.F467F EVI5L_uc002min.3_Silent_p.F456F NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 456 intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 CAGAAGACTTCGTGTCCCACC 0.657000 4 10 0 0 0.000978 0 0 LOC727896 727896 broad.mit.edu 37 18 2946308 2946308 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:2946308T>C uc010wyu.2 - 0 314 c.227A>G c.(226-228)gAg>gGg p.E76G LPIN2_uc002klo.3_Intron Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 pseudogene (LOC727896), non-coding RNA. AGTCTTGACCTCAGGTTTGAC 0.398000 14 21 0 0 0.002299 0 0 OR5M9 390162 broad.mit.edu 37 11 56230234 56230234 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:56230234G>A uc010rjj.2 - 0 644 c.644C>T c.(643-645)tCc>tTc p.S215F OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GAGAGTGTAGGAGATGAGGAC 0.498000 12 4 0 0 0.000248 0 0 COL8A1 1295 broad.mit.edu 37 3 99514879 99514879 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:99514879G>A uc003dti.1 + 2 2265 c.2137G>A c.(2137-2139)Gac>Aac p.D713N MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.D712N|COL8A1_uc003dth.1_Missense_Mutation_p.D712N NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 712 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII p.R713W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CAGGCCCGGAGACCGGGTGTT 0.537000 32 20 0 0 0.001523 0 0 OLFML1 283298 broad.mit.edu 37 11 7530873 7530873 + Nonsense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:7530873C>A uc001mfi.3 + 2 1170 c.663C>A c.(661-663)taC>taA p.Y221* OLFML1_uc010raz.2_Nonsense_Mutation_p.Y85*|OLFML1_uc010rba.2_Nonsense_Mutation_p.Y221* NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN Homo sapiens olfactomedin-like 1 (OLFML1), mRNA. 221 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AAGTGATCTACAAAGGTTTTC 0.438000 13 20 1.28384e-07 1.64107e-07 0.001882 1 0 LOC401127 401127 broad.mit.edu 37 4 39483089 39483089 + RNA SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:39483089C>T uc011byn.2 + 0 c.1215C>T Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA. ACTGTTAAGTCCCTTTGCTCC 0.502000 14 20 0 0 0.001523 0 0 SFSWAP 6433 broad.mit.edu 37 12 132249039 132249039 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:132249039G>A uc001uja.1 + 11 1899 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K SFSWAP_uc010tbn.1_Missense_Mutation_p.E587K|SFSWAP_uc001ujb.1_Missense_Mutation_p.E380K NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 587 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CAAGGCCAAAGAAAATGATCT 0.408000 1 14 0 0 0.003163 0 0 RPGR 6103 broad.mit.edu 37 X 38132689 38132689 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:38132689G>A uc004deb.3 - 17 2359 c.2191C>T c.(2191-2193)Cta>Tta p.L731L RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript NM_000328 NP_000319 Q92834 RPGR_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. 737 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 CTGTTTTCTAGGATTTCTAAT 0.313000 0 20 0 0 0.003330 0 0 GHR 2690 broad.mit.edu 37 5 42719062 42719062 + Missense_Mutation SNP G A A rs6176 byFrequency TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:42719062G>A uc021xxv.1 + 9 1611 c.1474G>A c.(1474-1476)Gac>Aac p.D492N GHR_uc003jmt.3_Missense_Mutation_p.D485N|GHR_uc003jmu.3_Missense_Mutation_p.D485N|GHR_uc003jmv.2_Missense_Mutation_p.D485N|GHR_uc021xxw.1_Missense_Mutation_p.D485N|GHR_uc021xxx.1_Missense_Mutation_p.D485N|GHR_uc021xxy.1_Missense_Mutation_p.D485N|GHR_uc021xxz.1_Missense_Mutation_p.D485N|GHR_uc021xya.1_Missense_Mutation_p.D485N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.D298N|GHR_uc021xyd.1_Missense_Mutation_p.D463N NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 485 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTCAAACATCGACTTTTATGC 0.488000 38 41 0 0 0.008740 0 0 INTS4 92105 broad.mit.edu 37 11 77667094 77667094 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:77667094G>T uc001oys.3 - 7 840 c.812C>A c.(811-813)cCt>cAt p.P271H INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.P271H NM_033547 NP_291025 Q96HW7 INT4_HUMAN Homo sapiens integrator complex subunit 4 (INTS4), mRNA. 271 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) ATTAGAAGAAGGAATTGGGAC 0.413000 17 17 4.63292e-17 5.99488e-17 0.008871 1 0 NPY1R 4886 broad.mit.edu 37 4 164246466 164246466 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:164246466C>T uc003iqm.2 - 2 1609 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.E139K NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 382 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding 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) CAGATTTTTTCATTATCATCA 0.378000 27 24 0 0 0.003330 0 0 PTCH2 8643 broad.mit.edu 37 1 45293862 45293862 + Splice_Site SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:45293862G>A uc010olf.2 - 14 1722 c.1710_splice c.e14-1 p.S570_splice PTCH2_uc021omv.1_Splice_Site_p.S570_splice|PTCH2_uc010olg.2_Splice_Site_p.S268_splice NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 570 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GCAGAGCAGGGACTGGAAGAG 0.617000 Basal Cell Nevus syndrome 6 35 0 0 0.003271 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88920115 88920115 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:88920115G>A uc004aou.3 - 22 4016 c.3878C>T c.(3877-3879)tCa>tTa p.S1293L ZCCHC6_uc010mqe.3_Missense_Mutation_p.S193L|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.S1293L|ZCCHC6_uc004aot.3_Missense_Mutation_p.S1057L|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript NM_001185059 NP_078893 Q5VYS8 TUT7_HUMAN Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA. 1293 RNA 3'-end processing RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 ACTTTTCCTTGATAATCCAGC 0.303000 3 29 0 0 0.002836 0 0 LAMA4 3910 broad.mit.edu 37 6 112461972 112461972 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:112461972G>A uc003pvu.2 - 21 3275 c.2966C>T c.(2965-2967)tCc>tTc p.S989F LAMA4_uc003pvv.2_Missense_Mutation_p.S982F|LAMA4_uc003pvt.2_Missense_Mutation_p.S982F NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 989 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTTGAAGTTGGAAGGCACTCC 0.413000 0 26 0 0 0.007291 0 0 ST14 6768 broad.mit.edu 37 11 130064116 130064116 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:130064116G>A uc001qfw.3 + 7 1141 c.948G>A c.(946-948)ctG>ctA p.L316L ST14_uc010sca.1_Silent_p.L126L NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 316 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCATCACACTGATAACCAACA 0.612000 37 69 0 0 0.003610 0 0 C3orf30 152405 broad.mit.edu 37 3 118867037 118867037 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:118867037C>T uc003ecb.1 + 1 1449 c.1409C>T c.(1408-1410)tCa>tTa p.S470L IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.S470L NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 470 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GATGAATTTTCAGAAATTGAC 0.368000 60 41 0 0 0.005524 0 0 TYW1B 441250 broad.mit.edu 37 7 72277945 72277945 + Missense_Mutation SNP C G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:72277945C>G uc011kej.2 - 4 596 c.437G>C c.(436-438)gGc>gCc p.G146A TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Non-coding_Transcript NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA. 146 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATTTTTGCCAACCTGCGA 0.517000 72 12 0 0 0.002450 0 0 FAM91A1 157769 broad.mit.edu 37 8 124792266 124792266 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:124792266C>T uc003yqv.3 + 6 652 c.591C>T c.(589-591)atC>atT p.I197I FAM91A1_uc011lik.1_Silent_p.I197I|FAM91A1_uc011lil.2_5'UTR NM_144963 NP_659400 Q658Y4 F91A1_HUMAN Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA. 197 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) ATAAGATCATCGATTCAGGCC 0.323000 42 23 0 0 0.003954 0 0 EYA4 2070 broad.mit.edu 37 6 133767844 133767844 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:133767844G>A uc011ecs.2 + 3 476 c.160G>A c.(160-162)Gaa>Aaa p.E54K EYA4_uc011ecq.2_Missense_Mutation_p.E54K|EYA4_uc011ecr.2_Missense_Mutation_p.E54K|EYA4_uc003qec.4_Missense_Mutation_p.E54K|EYA4_uc003qed.4_Missense_Mutation_p.E54K|EYA4_uc003qee.4_Missense_Mutation_p.E54K|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 54 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) CTCCAAACTGGAAAAATCTAA 0.438000 4 26 0 0 0.003954 0 0 SLC9C1 285335 broad.mit.edu 37 3 111918210 111918210 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:111918210T>A uc003dyu.3 - 19 2703 c.2481A>T c.(2479-2481)ttA>ttT p.L827F SLC9C1_uc011bhu.2_Missense_Mutation_p.L90F|SLC9C1_uc010hqc.3_Missense_Mutation_p.L779F NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 827 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TAATTCCTTTTAAGCCAAAAG 0.313000 75 48 0 0 0.003610 0 0 LTBP3 4054 broad.mit.edu 37 11 65318909 65318909 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:65318909G>A uc001oej.3 - 9 1854 c.1585C>T c.(1585-1587)Cca>Tca p.P529S LTBP3_uc001oeh.3_5'Flank|LTBP3_uc010roi.2_Missense_Mutation_p.P412S|LTBP3_uc001oei.3_Missense_Mutation_p.P529S|LTBP3_uc010roj.2_Missense_Mutation_p.P230S|LTBP3_uc010rok.1_Missense_Mutation_p.P440S|U7_uc021qll.1_5'Flank NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA. 529 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GTGGCAGTTGGGTGGCTCTGC 0.652000 26 15 0 0 0.006122 0 0 SRRM4 84530 broad.mit.edu 37 12 119540121 119540121 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:119540121C>T uc001txa.2 + 1 600 c.212C>T c.(211-213)cCc>cTc p.P71L NM_194286 NP_919262 A7MD48 SRRM4_HUMAN Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA. 71 RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GCCACCGAGCCCTTGGGCACC 0.542000 3 23 0 0 0.002299 0 0 ZNF491 126069 broad.mit.edu 37 19 11917528 11917528 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:11917528C>A uc002mso.1 + 2 1045 c.760C>A c.(760-762)Cgc>Agc p.R254S ZNF491_uc021upj.1_Missense_Mutation_p.R254S NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN Homo sapiens zinc finger protein 491 (ZNF491), mRNA. 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R254C(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 AGCATTATCTCGCCTTATAAG 0.413000 17 27 6.32553e-13 8.14499e-13 0.004656 1 0 GABRA4 2557 broad.mit.edu 37 4 46967121 46967121 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:46967121G>A uc003gxg.3 - 7 1983 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F GABRA4_uc021xnz.1_Missense_Mutation_p.L315F|GABRA4_uc021xoa.1_Missense_Mutation_p.L264F NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 334 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AACTCGATAAGGGCCGAAAAT 0.463000 26 44 0 0 0.002222 0 0 CCDC141 285025 broad.mit.edu 37 2 179736976 179736976 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179736976T>A uc002une.2 - 12 2081 c.1963A>T c.(1963-1965)Aac>Tac p.N655Y CCDC141_uc002unf.1_Missense_Mutation_p.N134Y NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 80 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTTTCTGGTTTTCCATGGTG 0.418000 43 31 0 0 0.002836 0 0 MST1P2 11209 broad.mit.edu 37 1 16974677 16974677 + RNA SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:16974677C>T uc010och.2 + 6 c.1137C>T MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GTTGTACAGACGACGTGCGGC 0.697000 19 4 0 0 0.001168 0 0 SYT1 6857 broad.mit.edu 37 12 79679683 79679683 + Missense_Mutation SNP G A A rs138582600 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:79679683G>A uc001sys.3 + 5 954 c.283G>A c.(283-285)Gaa>Aaa p.E95K SYT1_uc001syt.3_Missense_Mutation_p.E95K|SYT1_uc001syu.3_Missense_Mutation_p.E95K|SYT1_uc001syv.3_Missense_Mutation_p.E95K NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 95 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.E95K(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GAAGGGAAAGGAAAAAGGAGG 0.348000 13 14 0 0 0.002450 0 0 SLC5A8 160728 broad.mit.edu 37 12 101560428 101560428 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:101560428C>T uc001thz.4 - 11 1760 c.1370G>A c.(1369-1371)gGa>gAa p.G457E NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 457 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.V456I(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGCTCCAATTCCAACCCATAG 0.393000 14 20 0 0 0.008871 0 0 DSTYK 25778 broad.mit.edu 37 1 205138813 205138813 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:205138813T>A uc001hbw.3 - 2 866 c.802A>T c.(802-804)Atc>Ttc p.I268F DSTYK_uc001hbx.3_Missense_Mutation_p.I268F|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 268 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TACTTTCGGATTTCCTGAAGC 0.448000 32 31 0 0 0.007291 0 0 C15orf2 23742 broad.mit.edu 37 15 24921772 24921772 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:24921772G>A uc001ywo.3 + 0 1232 c.758G>A c.(757-759)gGa>gAa p.G253E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 253 G -> R (in dbSNP:rs1563102). cell differentiation|multicellular organismal development|spermatogenesis p.G253E(2) 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) CGGCATCTTGGAAAGCCTGAT 0.637000 38 26 0 0 0.006320 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062327 144062327 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:144062327C>T uc003wel.3 + 1 2683 c.2565C>T c.(2563-2565)ccC>ccT p.P855P ARHGEF5_uc003wek.3_Silent_p.P855P|ARHGEF5_uc003wem.3_5'Flank NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 855 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCCCATTGCCCCCAAAGTCCA 0.587000 84 38 0 0 0.002852 0 0 MYOCD 93649 broad.mit.edu 37 17 12666879 12666879 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:12666879C>T uc002gno.2 + 13 3178 c.2879C>T c.(2878-2880)cCc>cTc p.P960L MYOCD_uc002gnn.2_Missense_Mutation_p.P912L|MYOCD_uc002gnq.2_Missense_Mutation_p.P636L NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 912 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding p.P912R(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACCAGCAGCCCCAGCATCTTC 0.512000 13 26 0 0 0.003330 0 0 GDF2 2658 broad.mit.edu 37 10 48414335 48414335 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:48414335C>T uc001jfa.1 - 1 693 c.533G>A c.(532-534)gGa>gAa p.G178E NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 178 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 GGCATCTGTTCCATCCAGAAC 0.532000 1 24 0 0 0.003330 0 0 ZIC3 7547 broad.mit.edu 37 X 136649461 136649461 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:136649461G>A uc004fak.3 + 0 1116 c.611G>A c.(610-612)aGc>aAc p.S204N NM_003413 NP_003404 O60481 ZIC3_HUMAN Homo sapiens Zic family member 3 (ZIC3), mRNA. 204 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CCAGTGGCCAGCCCGCGCACG 0.692000 3 42 0 0 0.008740 0 0 PHF21B 112885 broad.mit.edu 37 22 45279178 45279178 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:45279178G>A uc003bfn.3 - 12 1535 c.1384C>T c.(1384-1386)Ctg>Ttg p.L462L PHF21B_uc011aqk.2_Silent_p.L408L|PHF21B_uc003bfm.3_Silent_p.L258L|PHF21B_uc011aql.2_Silent_p.L420L NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 462 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) TTCAACTCCAGGCATTTCTGT 0.637000 50 33 0 0 0.002445 0 0 DYSF 8291 broad.mit.edu 37 2 71766287 71766287 + Splice_Site SNP G A A rs141400095 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:71766287G>A uc010fen.3 + 17 1635 c.1494_splice c.e17-1 p.W498_splice DYSF_uc010fei.3_Splice_Site_p.W497_splice|DYSF_uc010feh.3_Splice_Site_p.W466_splice|DYSF_uc002sig.4_Splice_Site_p.W466_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.W497_splice|DYSF_uc010fee.3_Splice_Site_p.W466_splice|DYSF_uc010fef.3_Splice_Site_p.W497_splice|DYSF_uc002sie.3_Splice_Site_p.W466_splice|DYSF_uc010feo.3_Splice_Site_p.W498_splice|DYSF_uc010fej.3_Splice_Site_p.W467_splice|DYSF_uc010fel.3_Splice_Site_p.W467_splice|DYSF_uc010fem.3_Splice_Site_p.W467_splice|DYSF_uc002sif.3_Splice_Site_p.W467_splice|DYSF_uc010fek.3_Splice_Site_p.W498_splice NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 466 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.W466*(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTTGCTCTAGGGACCGCCTGA 0.557000 50 52 0 0 0.003610 0 0 NTRK3 4916 broad.mit.edu 37 15 88476382 88476382 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:88476382C>T uc002bme.2 - 15 2056 c.1750G>A c.(1750-1752)Gat>Aat p.D584N NTRK3_uc002bmh.2_Missense_Mutation_p.D576N|NTRK3_uc002bmf.2_Missense_Mutation_p.D584N|NTRK3_uc021sua.1_Missense_Mutation_p.D576N|NTRK3_uc010upl.1_Missense_Mutation_p.D486N|NTRK3_uc010bnh.1_Missense_Mutation_p.D576N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 584 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.D584E(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CTCTGGAAATCCTTCCGGGCA 0.567000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 48 42 0 0 0.003214 0 0 SERPINA9 327657 broad.mit.edu 37 14 94936041 94936041 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:94936041G>A uc001ydf.3 - 1 352 c.191C>T c.(190-192)tCc>tTc p.S64F SERPINA9_uc001yde.3_Missense_Mutation_p.S64F|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.S64F|SERPINA9_uc001ydi.1_Intron 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. 46 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) GGTGTTGAGGGAATACACCTG 0.587000 48 33 0 0 0.002445 0 0 RYR3 6263 broad.mit.edu 37 15 34042414 34042414 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:34042414G>A uc001zhi.3 + 56 8396 c.8326G>A c.(8326-8328)Gaa>Aaa p.E2776K RYR3_uc010bar.3_Missense_Mutation_p.E2776K NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2776 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GACTGCCAAGGAAAAGTTCAA 0.493000 11 14 0 0 0.003163 0 0 HIST1H4D 8360 broad.mit.edu 37 6 26189118 26189119 + Silent DNP GG AA AA TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:26189118_26189119GG>AA uc003ngu.3 - 0 186_187 c.186_187CC>TT c.(184-189)ttcctg>ttTTtg p.62_63FL>FL NM_003539 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 1, H4d (HIST1H4D), mRNA. 62 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1) 8 all_hematologic(11;0.196) ACATTTTCCAGGAAAACTTTCA 0.579000 51 67 0 0 0.004672 0 0 DVL3 1857 broad.mit.edu 37 3 183888383 183888383 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:183888383C>T uc003fms.3 + 14 2131 c.1991C>T c.(1990-1992)cCc>cTc p.P664L DVL3_uc011bqw.2_Missense_Mutation_p.P647L|DVL3_uc003fmt.3_Missense_Mutation_p.P335L|DVL3_uc003fmu.3_Missense_Mutation_p.P496L NM_004423 NP_004414 Q92997 DVL3_HUMAN Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA. 664 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) CTCTACGGCCCCCCCATGCTG 0.736000 9 11 0 0 0.001368 0 0 GABRA1 2554 broad.mit.edu 37 5 161324166 161324166 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:161324166C>T uc010jiw.3 + 10 1577 c.1109C>T c.(1108-1110)cCa>cTa p.P370L GABRA1_uc010jix.3_Missense_Mutation_p.P370L|GABRA1_uc010jiy.3_Missense_Mutation_p.P370L|GABRA1_uc003lyx.4_Missense_Mutation_p.P370L|GABRA1_uc010jiz.3_Missense_Mutation_p.P370L|GABRA1_uc010jja.3_Missense_Mutation_p.P370L|GABRA1_uc010jjb.3_Missense_Mutation_p.P370L NM_000806 NP_001121120 P14867 GBRA1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. 370 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|extracellular ligand-gated ion channel activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ACTTACGCTCCAACAGCAACC 0.438000 7 77 0 0 0.003610 0 0 CACNA1C 775 broad.mit.edu 37 12 2613673 2613673 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:2613673C>T uc001qkm.2 + 7 1498 c.1185C>T c.(1183-1185)ttC>ttT p.F395F CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Silent_p.F395F|CACNA1C_uc001qkk.2_Silent_p.F395F|CACNA1C_uc001qkn.2_Silent_p.F395F|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Silent_p.F131F|CACNA1C_uc009zdy.1_Silent_p.F20F|CACNA1C_uc001qkv.1_5'Flank NM_001167625 NP_001161097 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 23, mRNA. 395 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GATCCTTTTTCGTTCTAAATC 0.488000 89 59 0 0 0.003610 0 0 AGBL2 79841 broad.mit.edu 37 11 47712337 47712337 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:47712337G>A uc001ngg.3 - 9 1224 c.922C>T c.(922-924)Cgt>Tgt p.R308C AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.R270C|AGBL2_uc001ngh.1_Missense_Mutation_p.R252C NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA. 308 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 TTCTGAACACGAAAATAAAAC 0.403000 55 30 0 0 0.008361 0 0 C14orf133 63894 broad.mit.edu 37 14 77902196 77902196 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:77902196G>A uc001xtt.2 - 13 1320 c.903C>T c.(901-903)atC>atT p.I301I C14orf133_uc001xtu.2_Silent_p.I301I|C14orf133_uc001xtv.2_Silent_p.I301I|C14orf133_uc021rwu.1_Silent_p.I301I|C14orf133_uc010tvj.2_Silent_p.I252I NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA. 301 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCTCAATAATGATCTGACGTT 0.463000 50 46 0 0 0.003610 0 0 PFKM 5213 broad.mit.edu 37 12 48501918 48501918 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:48501918A>G uc001rrb.2 + 2 420 c.146A>G c.(145-147)aAg>aGg p.K49R SENP1_uc001rqw.3_5'Flank|SENP1_uc001rqx.3_5'Flank|SENP1_uc001rqy.3_5'Flank|SENP1_uc001rqz.3_5'Flank|SENP1_uc009zkx.3_5'Flank|PFKM_uc001rra.2_5'UTR NM_001166686 NP_001160160 P08237 K6PF_HUMAN Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. 0 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GACATCTTGAAGAGTCTAGAT 0.463000 40 91 0 0 0.003610 0 0 KCNA6 3742 broad.mit.edu 37 12 4919938 4919938 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:4919938G>T uc001qng.3 + 0 1597 c.731G>T c.(730-732)gGg>gTg p.G244V KCNA6_uc021qtr.1_Missense_Mutation_p.G244V NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 244 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 GGGGAAATGGGGACCGGGGGC 0.547000 HNSCC(72;0.22) 92 42 2.24059e-37 2.92808e-37 0.003610 1 0 KLHL18 23276 broad.mit.edu 37 3 47374698 47374698 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:47374698C>T uc003crd.3 + 4 778 c.652C>T c.(652-654)Ccc>Tcc p.P218S KLHL18_uc003crc.2_Missense_Mutation_p.P218S|KLHL18_uc011bav.2_Missense_Mutation_p.P106S|KLHL18_uc010hjq.2_Missense_Mutation_p.P69S NM_025010 NP_079286 O94889 KLH18_HUMAN Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA. 218 BACK. endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GCAGAGGGGTCCCTACCTGCC 0.592000 3 52 0 0 0.003610 0 0 KIAA1328 57536 broad.mit.edu 37 18 34647325 34647325 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:34647325G>A uc002kzz.3 + 6 1071 c.1049G>A c.(1048-1050)gGg>gAg p.G350E KIAA1328_uc002lab.3_Missense_Mutation_p.G66E|KIAA1328_uc002lac.1_Missense_Mutation_p.G173E|KIAA1328_uc002lad.3_Missense_Mutation_p.G66E NM_020776 NP_065827 Q86T90 K1328_HUMAN Homo sapiens KIAA1328 (KIAA1328), mRNA. 350 p.G350R(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) CATGGTGGTGGGGCACTGCAA 0.458000 24 19 0 0 0.007413 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193244 132193244 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:132193244C>T uc003vra.4 - 1 438 c.209G>A c.(208-210)cGg>cAg p.R70Q PLXNA4_uc003vrc.2_Missense_Mutation_p.R70Q|PLXNA4_uc003vrb.3_Missense_Mutation_p.R70Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 70 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 CTTGTAAATCCGATTGACGGC 0.577000 76 37 0 0 0.005524 0 0 CALB1 793 broad.mit.edu 37 8 91090675 91090675 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:91090675C>T uc003yel.1 - 3 339 c.157_splice c.e3-1 p.E53_splice CALB1_uc003yem.1_Splice_Site|CALB1_uc011lge.1_Splice_Site NM_004929 NP_004920 P05937 CALB1_HUMAN Homo sapiens calbindin 1, 28kDa (CALB1), mRNA. 53 EF-hand 2. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) GGTGATAACTCCTAAAATTAT 0.308000 74 30 0 0 0.001786 0 0 C21orf62 56245 broad.mit.edu 37 21 34166432 34166432 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:34166432C>T uc021wik.1 - 0 301 c.301G>A c.(301-303)Gac>Aac p.D101N C21orf49_uc002yqs.3_Intron|C21orf49_uc002yqu.4_Intron|C21orf49_uc002yqt.3_Intron|C21orf62_uc010glz.3_Missense_Mutation_p.D101N|C21orf62_uc011adt.2_Missense_Mutation_p.D101N|C21orf62_uc011adu.2_Missense_Mutation_p.D101N NM_019596 NP_062542 Q9NYP8 CU062_HUMAN Homo sapiens chromosome 21 open reading frame 62 (C21orf62), transcript variant 2, mRNA. 101 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 6 Myeloproliferative disorder(46;0.0255) AGCTTCAGGTCTTGGACCAGC 0.562000 36 24 0 0 0.003330 0 0 BC101079 0 broad.mit.edu 37 15 102292756 102292756 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:102292756G>A uc010usj.2 + 3 403 c.344G>A c.(343-345)gGc>gAc p.G115D DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank Homo sapiens cDNA clone IMAGE:40009338. GGCAGAGCAGGCACAGCGGCG 0.607000 9 4 0 0 0.000248 0 0 SCN7A 6332 broad.mit.edu 37 2 167288995 167288995 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:167288995C>T uc002udu.2 - 14 2555 c.2425G>A c.(2425-2427)Gaa>Aaa p.E809K SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 809 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTGCTTTTTTCCTTATCTTTG 0.398000 155 131 0 0 0.003610 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918742 17918742 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:17918742G>A uc002nhl.1 + 1 273 c.126G>A c.(124-126)gcG>gcA p.A42A B3GNT3_uc010ebd.1_Silent_p.A42A|B3GNT3_uc010ebe.1_Silent_p.A42A NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 42 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 AGCCACCGGCGATCCCCGAGG 0.677000 8 24 0 0 0.003330 0 0 BDKRB2 624 broad.mit.edu 37 14 96703467 96703467 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:96703467C>T uc010avm.1 + 1 219 c.23C>T c.(22-24)tCa>tTa p.S8L BDKRB2_uc010avl.2_Nonsense_Mutation_p.Q68*|BDKRB2_uc010twu.1_5'UTR|BDKRB2_uc001yfg.2_Missense_Mutation_p.S8L NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 8 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) TGGAAGATATCAATGTTTCTG 0.527000 70 51 0 0 0.003610 0 0 THSD7B 80731 broad.mit.edu 37 2 137928455 137928455 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:137928455G>A uc002tva.1 + 5 1577 c.1577G>A c.(1576-1578)gGa>gAa p.G526E THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416E 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) CCTGATCATGGAAAATGTGGC 0.522000 28 21 0 0 0.001523 0 0 KCNH5 27133 broad.mit.edu 37 14 63447604 63447604 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:63447604C>T uc001xfx.3 - 5 979 c.928G>A c.(928-930)Gaa>Aaa p.E310K KCNH5_uc001xfy.3_Missense_Mutation_p.E310K|KCNH5_uc001xfz.1_Missense_Mutation_p.E252K|KCNH5_uc001xga.3_Missense_Mutation_p.E252K NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 310 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.E310K(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCCACATTTTCAAAGGCATTG 0.363000 22 27 0 0 0.006320 0 0 PHC1 1911 broad.mit.edu 37 12 9083324 9083324 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:9083324G>A uc001qvd.3 + 6 1062 c.906G>A c.(904-906)ggG>ggA p.G302G PHC1_uc001qvc.1_Silent_p.G257G|PHC1_uc010sgn.1_Silent_p.G302G|PHC1_uc001qve.3_Silent_p.G302G NM_004426 NP_004417 P78364 PHC1_HUMAN Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA. 302 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TGGGTGGTGGGAGCTGTCCCA 0.607000 4 8 0 0 0.003080 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140262057 140262057 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:140262057C>T uc003lif.2 + 0 204 c.204C>T c.(202-204)tcC>tcT p.S68S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S68S|PCDHAC2_uc003lid.3_Silent_p.S68S NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 86 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) GGGTGGCGTCCAAAAGACACG 0.622000 10 112 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82784917 82784917 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:82784917C>T uc003uhx.2 - 1 1329 c.1040G>A c.(1039-1041)gGg>gAg p.G347E PCLO_uc003uhv.2_Missense_Mutation_p.G347E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 320 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.G347G(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTCACTGTCCCTGGTTGTTG 0.587000 31 22 0 0 0.002299 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246907 47246907 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:47246907G>A uc002ion.2 + 10 1577 c.1518G>A c.(1516-1518)ggG>ggA p.G506G B4GALNT2_uc010wlt.1_Silent_p.G420G|B4GALNT2_uc010wlu.1_Silent_p.G446G NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 506 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) ATGGGCTAGGGACCCTACTCG 0.532000 67 69 0 0 0.003610 0 0 TRPA1 8989 broad.mit.edu 37 8 72963099 72963099 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:72963099C>T uc003xza.3 - 14 1994 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA. 607 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTAAGACATTCATCCCATCTG 0.338000 24 46 0 0 0.003610 0 0 OTUD4 54726 broad.mit.edu 37 4 146071980 146071980 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:146071980G>A uc003ika.4 - 11 989 c.851C>T c.(850-852)tCc>tTc p.S284F NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 348 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) TCCAGAAGTGGAAGGTTTTTT 0.423000 22 16 0 0 0.004990 0 0 PDE9A 5152 broad.mit.edu 37 21 44182282 44182282 + Missense_Mutation SNP T C C rs145560514 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:44182282T>C uc002zbm.3 + 13 1238 c.1175T>C c.(1174-1176)aTc>aCc p.I392T PDE9A_uc002zbn.3_Missense_Mutation_p.I265T|PDE9A_uc002zbo.3_Missense_Mutation_p.I339T|PDE9A_uc002zbp.3_Missense_Mutation_p.I185T|PDE9A_uc002zbq.3_Missense_Mutation_p.I290T|PDE9A_uc002zbs.3_Missense_Mutation_p.I185T|PDE9A_uc002zbr.3_Missense_Mutation_p.I185T|PDE9A_uc002zbt.3_Missense_Mutation_p.I264T|PDE9A_uc002zbu.3_Missense_Mutation_p.I258T|PDE9A_uc002zbv.3_Missense_Mutation_p.I232T|PDE9A_uc002zbw.3_Missense_Mutation_p.I175T|PDE9A_uc002zbx.3_Missense_Mutation_p.I332T|PDE9A_uc002zby.3_Missense_Mutation_p.I175T|PDE9A_uc002zbz.3_Missense_Mutation_p.I284T|PDE9A_uc002zca.3_Missense_Mutation_p.I351T|PDE9A_uc002zcb.3_Missense_Mutation_p.I366T|PDE9A_uc002zcc.3_Missense_Mutation_p.I291T|PDE9A_uc002zcd.3_Missense_Mutation_p.I306T|PDE9A_uc002zce.3_Missense_Mutation_p.I325T|PDE9A_uc002zcf.3_Missense_Mutation_p.I185T|PDE9A_uc002zcg.3_Missense_Mutation_p.I185T|PDE9A_uc010gpf.1_Missense_Mutation_p.I185T NM_002606 NP_001001585 O76083 PDE9A_HUMAN Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA. 392 Catalytic (By similarity). platelet activation|signal transduction Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GCCTTCCAGATCCTCGCCGAG 0.612000 45 30 0 0 0.001786 0 0 NLRP11 204801 broad.mit.edu 37 19 56297232 56297232 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:56297232G>A uc010ygf.2 - 11 3572 c.2861C>T c.(2860-2862)cCa>cTa p.P954L NLRP11_uc002qlz.3_Missense_Mutation_p.P801L|NLRP11_uc002qmb.3_Missense_Mutation_p.P855L|NLRP11_uc002qmc.3_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 954 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GCCAGTTAATGGAAGCCTGAA 0.433000 33 47 0 0 0.003610 0 0 SSTR2 6752 broad.mit.edu 37 17 71166319 71166319 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:71166319C>T uc002jje.3 + 1 1221 c.861C>T c.(859-861)acC>acT p.T287T SSTR2_uc021ucm.1_Silent_p.T287T NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 287 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TCAGCCCCACCCCAGCCCTTA 0.502000 8 101 0 0 0.003610 0 0 DSG4 147409 broad.mit.edu 37 18 28970648 28970648 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:28970648G>A uc002kwr.2 + 5 682 c.547G>A c.(547-549)Gat>Aat p.D183N DSG4_uc002kwq.2_Missense_Mutation_p.D183N NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 183 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATGTGCCACAGATGCAGATGA 0.393000 45 20 0 0 0.001882 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857935 9857935 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:9857935C>T uc010uym.2 - 13 3776 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K GRIN2A_uc002czo.4_Missense_Mutation_p.E1156K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E999K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1156K NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1156 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) CGGAAGTTTTCACTGGGATCC 0.527000 107 79 0 0 0.003610 0 0 NOL4 8715 broad.mit.edu 37 18 31537398 31537398 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:31537398G>A uc010dmi.3 - 7 1618 c.1320C>T c.(1318-1320)atC>atT p.I440I NOL4_uc010xbs.2_Silent_p.I155I|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Silent_p.I366I|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 440 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ATGAGTCAATGATAGCCTGGA 0.468000 32 10 0 0 0.006214 0 0 ENHO 375704 broad.mit.edu 37 9 34521573 34521573 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:34521573C>T uc022bgf.1 - 0 121 c.121G>A c.(121-123)Gtt>Att p.V41I ENHO_uc003zun.1_Missense_Mutation_p.V41I|ENHO_uc003zuo.3_Non-coding_Transcript NM_198573 NP_940975 Q6UWT2 ENHO_HUMAN Homo sapiens energy homeostasis associated (ENHO), mRNA. 41 extracellular region endometrium(1)|lung(1) 2 AGAGAGTCAACGTCGGCAGAG 0.632000 38 28 0 0 0.006320 0 0 RBM22 55696 broad.mit.edu 37 5 150072520 150072520 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:150072520G>A uc003lst.3 - 9 1191 c.1069C>T c.(1069-1071)Cct>Tct p.P357S NM_018047 NP_060517 Q9NW64 RBM22_HUMAN Homo sapiens RNA binding motif protein 22 (RBM22), mRNA. 357 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACAGCTGGAGGACCACTTGGG 0.547000 7 78 0 0 0.003610 0 0 SLC15A2 6565 broad.mit.edu 37 3 121641671 121641671 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:121641671G>A uc003eep.2 + 8 983 c.830G>A c.(829-831)cGa>cAa p.R277Q SLC15A2_uc011bjn.1_Missense_Mutation_p.R246Q NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 277 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) ATTCCAAAGCGACAGCACTGG 0.423000 29 14 0 0 0.004007 0 0 ROBO1 6091 broad.mit.edu 37 3 78766486 78766486 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:78766486G>A uc003dqe.2 - 6 1064 c.856C>T c.(856-858)Cga>Tga p.R286* ROBO1_uc003dqc.2_Nonsense_Mutation_p.R247*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.R247*|ROBO1_uc003dqb.2_Nonsense_Mutation_p.R247*|ROBO1_uc003dqf.1_5'Flank NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 286 Ig-like C2-type 3. Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding p.R286R(6)|p.R263R(2)|p.R247R(2) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGGTCACCTCGGGCCTCACAT 0.428000 101 107 0 0 0.003610 0 0 ODZ1 10178 broad.mit.edu 37 X 123785916 123785916 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:123785916G>A uc010nqy.3 - 7 1491 c.1427C>T c.(1426-1428)tCt>tTt p.S476F ODZ1_uc011muj.2_Missense_Mutation_p.S475F|ODZ1_uc004euj.3_Missense_Mutation_p.S476F NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 476 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 TGTATCATCAGAGCCCTTGGA 0.433000 2 42 0 0 0.002522 0 0 LZTR1 8216 broad.mit.edu 37 22 21328425 21328425 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:21328425G>A uc002ztj.2 + 4 647 c.429G>A c.(427-429)gaG>gaA p.E143E LZTR1_uc002ztk.2_Silent_p.E143E|LZTR1_uc002ztl.2_Silent_p.E149E|LZTR1_uc011ahx.1_Silent_p.E131E NM_144704 NP_653305 Q8N653 LZTR1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 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) GGGACCTGGAGGACTTCCCTG 0.667000 34 17 0 0 0.006122 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535920 69535920 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:69535920C>T uc021xow.1 - 0 575 c.417G>A c.(415-417)atG>atA p.M139I NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 139 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CTTGTAGTTTCATCATAAGTT 0.358000 150 63 0 0 0.003610 0 0 MME 4311 broad.mit.edu 37 3 154861319 154861319 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:154861319C>T uc010hvr.1 + 12 1487 c.1276C>T c.(1276-1278)Ctt>Ttt p.L426F MME_uc003fab.1_Missense_Mutation_p.L426F|MME_uc003fac.1_Missense_Mutation_p.L426F|MME_uc003fad.1_Missense_Mutation_p.L426F|MME_uc003fae.1_Missense_Mutation_p.L426F NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 426 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TGTGGGGAGGCTTTATGTGGA 0.413000 75 45 0 0 0.003214 0 0 FSIP1 161835 broad.mit.edu 37 15 40057916 40057916 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:40057916T>C uc001zki.3 - 3 560 c.342A>G c.(340-342)caA>caG p.Q114Q NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA. 114 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) CATCTTGAAGTTGAGAATCTA 0.274000 40 18 0 0 0.001882 0 0 FAM5C 339479 broad.mit.edu 37 1 190234137 190234137 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:190234137C>T uc001gse.1 - 3 708 c.476G>A c.(475-477)cGa>cAa p.R159Q FAM5C_uc010pot.1_Missense_Mutation_p.R57Q NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 159 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) TCCTTCAGCTCGTTTGCTCAA 0.408000 2 62 0 0 0.003610 0 0 FRG2B 441581 broad.mit.edu 37 10 135440179 135440179 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:135440179G>A uc010qvg.2 - 0 121 c.68C>T c.(67-69)cCt>cTt p.P23L NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 23 nucleus p.P22T(1)|p.P22H(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) CTGTTGGAAAGGGGGCTGGTC 0.498000 196 16 0 0 0.002780 0 0 DSTYK 25778 broad.mit.edu 37 1 205138811 205138811 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:205138811G>A uc001hbw.3 - 2 868 c.804C>T c.(802-804)atC>atT p.I268I DSTYK_uc001hbx.3_Silent_p.I268I|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 268 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AATACTTTCGGATTTCCTGAA 0.443000 32 30 0 0 0.006320 0 0 ERC2 26059 broad.mit.edu 37 3 56041241 56041241 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:56041241C>T uc021wzo.1 - 8 2169 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K ERC2_uc003dhr.1_Missense_Mutation_p.E677K|ERC2_uc003dht.1_Missense_Mutation_p.E148K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 677 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) TTGCTACATTCCTCTTTCTTT 0.333000 0 6 0 0 0.001168 0 0 EFHA2 286097 broad.mit.edu 37 8 16962938 16962938 + Nonsense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:16962938C>T uc003wxd.2 + 10 1144 c.1102C>T c.(1102-1104)Caa>Taa p.Q368* NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA. 368 integral to membrane calcium ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4) 23 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) GGATAATCTCCAAACAGAAGT 0.313000 17 3 0 0 0.004672 0 0 TRHDE 29953 broad.mit.edu 37 12 73056945 73056945 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:73056945C>T uc001sxa.3 + 18 3075 c.3045C>T c.(3043-3045)ttC>ttT p.F1015F NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 1015 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACGAGCTTTTCCAATGGTTAG 0.398000 16 30 0 0 0.001786 0 0 TRHR 7201 broad.mit.edu 37 8 110100093 110100093 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:110100093G>A uc003ymz.4 + 0 441 c.352G>A c.(352-354)Gcc>Acc p.A118T NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 118 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTCAATAACAGCCTTTACCAT 0.433000 52 20 0 0 0.001523 0 0 DNAH6 1768 broad.mit.edu 37 2 84811238 84811238 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:84811238C>T uc010fgb.3 + 14 2482 c.2345C>T c.(2344-2346)tCc>tTc p.S782F DNAH6_uc002soo.3_Missense_Mutation_p.S361F|DNAH6_uc002sop.3_Missense_Mutation_p.S361F NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA. 782 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 ATGAAGCCATCCATTGTTGCT 0.398000 53 41 0 0 0.007835 0 0 SLC2A3 6515 broad.mit.edu 37 12 8075454 8075454 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:8075454G>A uc001qtr.3 - 8 1497 c.1235C>T c.(1234-1236)tCc>tTc p.S412F NM_006931 NP_008862 P11169 GTR3_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA. 412 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TAGGAAGTTGGAGGTCCAGTT 0.537000 62 50 0 0 0.003610 0 0 UNC80 285175 broad.mit.edu 37 2 210640652 210640652 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:210640652C>T uc010zjc.1 + 2 261 c.181C>T c.(181-183)Ctc>Ttc p.L61F UNC80_uc021vvx.1_Missense_Mutation_p.L61F|UNC80_uc002vdj.1_Missense_Mutation_p.L61F NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA. 61 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GCTGCATGGCCTCTCTCCAGC 0.453000 104 63 0 0 0.003610 0 0 CARD6 84674 broad.mit.edu 37 5 40852421 40852421 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:40852421C>T uc003jmg.3 + 2 1062 c.987C>T c.(985-987)ttC>ttT p.F329F NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 329 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CCTGGAATTTCCTGATGAAAG 0.463000 41 24 0 0 0.002780 0 0 RIN3 79890 broad.mit.edu 37 14 93151445 93151445 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:93151445G>A uc001yap.3 + 8 2733 c.2581G>A c.(2581-2583)Gag>Aag p.E861K RIN3_uc010auk.3_Missense_Mutation_p.E523K|RIN3_uc001yaq.3_Missense_Mutation_p.E786K|RIN3_uc001yas.1_Missense_Mutation_p.E523K NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA. 861 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCACCGCTGGGAGCGCCGGCG 0.672000 18 24 0 0 0.003330 0 0 FUT6 2528 broad.mit.edu 37 19 5831951 5831951 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:5831951G>A uc002mdf.1 - 3 1154 c.628C>T c.(628-630)Cag>Tag p.Q210* FUT6_uc021unl.1_Nonsense_Mutation_p.Q210*|FUT6_uc002mdg.1_Nonsense_Mutation_p.Q210*|FUT6_uc002mdh.1_Nonsense_Mutation_p.Q210*|FUT6_uc021unm.1_Nonsense_Mutation_p.Q210* NM_001040701 NP_001035791 P51993 FUT6_HUMAN Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA. 210 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 TGCAGGCTCTGGTAGTAGCGC 0.647000 42 63 0 0 0.003610 0 0 MLL2 8085 broad.mit.edu 37 12 49416070 49416071 + Missense_Mutation DNP GG AA AA TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:49416070_49416071GG>AA uc001rta.4 - 51 16404_16405 c.16404_16405CC>TT c.(16402-16407)ggccct>ggTTct p.P5469S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 5469 SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CACCTGGCAGGGCCGCCGGTCA 0.490000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 5 16 0 0 0.004672 0 0 OR51A2 401667 broad.mit.edu 37 11 4976637 4976637 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:4976637C>T uc010qyt.2 - 0 307 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 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) ATGAAGAATTCCTGGGCAAAG 0.448000 7 93 0 0 0.003610 0 0 SMR3A 26952 broad.mit.edu 37 4 71232674 71232674 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:71232674C>T uc003hfg.1 + 2 449 c.368C>T c.(367-369)tCt>tTt p.S123F SMR3A_uc011cas.2_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA. 123 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) CCTGTAAATTCTCCAACTGAT 0.512000 23 38 0 0 0.005524 0 0 MUC16 94025 broad.mit.edu 37 19 9068790 9068790 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:9068790T>C uc002mkp.3 - 2 18860 c.18656A>G c.(18655-18657)aAc>aGc p.N6219S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6221 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.N6219I(3)|p.N1852I(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 AGAGAGAGAGTTGGCTTCTTC 0.458000 70 46 0 0 0.003610 0 0 GFPT2 9945 broad.mit.edu 37 5 179755283 179755283 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:179755283G>A uc003mlw.1 - 6 688 c.590C>T c.(589-591)gCc>gTc p.A197V NM_005110 NP_005101 O94808 GFPT2_HUMAN Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA. 197 Glutamine amidotransferase type-2. UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TCACCGTGTGGCAACGGCTTC 0.532000 OREG0017113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 37 0 0 0.007835 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50466899 50466899 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:50466899A>G uc001vdk.2 + 0 2355 c.2173A>G c.(2173-2175)Acc>Gcc p.T725A Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. TCCTCCAGGAACCATGTTTGG 0.527000 41 68 0 0 0.003610 0 0 SEMA6D 80031 broad.mit.edu 37 15 48062918 48062918 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:48062918C>T uc010bek.3 + 18 2518 c.2158C>T c.(2158-2160)Ctc>Ttc p.L720F SEMA6D_uc001zvw.3_Missense_Mutation_p.L658F|SEMA6D_uc001zvy.3_Missense_Mutation_p.L720F|SEMA6D_uc001zvz.3_Missense_Mutation_p.L664F|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.L658F|SEMA6D_uc001zwc.3_Missense_Mutation_p.L645F NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA. 720 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACTGAATGGTCTCTTTGACAG 0.443000 70 38 0 0 0.005524 0 0 LAMC2 3918 broad.mit.edu 37 1 183197521 183197521 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:183197521A>G uc001gqa.2 + 10 1795 c.1481A>G c.(1480-1482)gAg>gGg p.E494G LAMC2_uc001gpz.4_Missense_Mutation_p.E494G|LAMC2_uc010poa.2_Missense_Mutation_p.E194G NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 494 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 GCCCGCTGTGAGCTCTGTGCT 0.562000 OREG0014041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 65 0 0 0.003610 0 0 PRSS58 136541 broad.mit.edu 37 7 141955396 141955396 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:141955396G>A uc003vxb.3 - 1 458 c.138C>T c.(136-138)atC>atT p.I46I PRSS58_uc003vxc.4_Silent_p.I46I NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 46 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.L45L(1) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AAAGCGGGTGGATCAGGACTC 0.498000 84 38 0 0 0.006230 0 0 VARS 7407 broad.mit.edu 37 6 31747260 31747260 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:31747260G>A uc003nxe.3 - 27 3765 c.3342C>T c.(3340-3342)atC>atT p.I1114I VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Silent_p.I51I NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 1114 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CGGCTCGCGTGATGCTTAGCG 0.697000 170 278 0 0 0.003610 0 0 MRPS31 10240 broad.mit.edu 37 13 41345346 41345346 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:41345346C>T uc001uxm.4 - 1 1 c.-74_splice c.e1-1 NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) CCCGCCCTCTCTTCCGCTTCC 0.637000 13 9 0 0 0.006214 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77468357 77468357 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:77468357A>G uc002ffc.4 - 1 555 c.136T>C c.(136-138)Tta>Cta p.L46L ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 46 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCACTGGCTAAGGCCGCGGCG 0.642000 9 5 0 0 0.001168 0 0 MYH1 4619 broad.mit.edu 37 17 10399748 10399748 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:10399748C>T uc002gmo.3 - 33 4869 c.4775G>A c.(4774-4776)aGa>aAa p.R1592K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1592 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.R1592K(2) 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 AATGTGGTTTCTCTTCATCTG 0.463000 105 43 0 0 0.008740 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036488 21036488 + Missense_Mutation SNP C T T rs78627909 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:21036488C>T uc010sil.2 + 10 1699 c.1634C>T c.(1633-1635)tCt>tTt p.S545F SLCO1B3_uc001rek.3_Missense_Mutation_p.S545F|SLCO1B3_uc001rel.3_Missense_Mutation_p.S545F|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 545 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.S545C(2) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GTCATAAACTCTTTGTTCTCT 0.358000 59 50 0 0 0.003610 0 0 CD33 945 broad.mit.edu 37 19 51738439 51738439 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:51738439T>C uc002pwa.2 + 4 813 c.773T>C c.(772-774)gTt>gCt p.V258A CD33_uc010eos.1_Missense_Mutation_p.V258A|CD33_uc010eot.1_Missense_Mutation_p.V131A|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 258 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding p.V257L(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GCAGGAGTGGTTCATGGGGCC 0.493000 33 47 0 0 0.003610 0 0 SLC7A10 56301 broad.mit.edu 37 19 33706849 33706849 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:33706849G>A uc002num.2 - 1 329 c.182C>T c.(181-183)tCg>tTg p.S61L SLC7A10_uc010xrq.2_Intron NM_019849 NP_062823 Q9NS82 AAA1_HUMAN Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA. 61 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CCCCTTGGGCGAGATGAAGAT 0.667000 8 6 0 0 0.001168 0 0 GLI3 2737 broad.mit.edu 37 7 42004024 42004024 + Silent SNP C T T rs111446996 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:42004024C>T uc011kbh.2 - 14 4738 c.4647G>A c.(4645-4647)gcG>gcA p.A1549A GLI3_uc011kbg.2_Silent_p.A1490A NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1549 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TCATGGACAGCGCTGGGAATG 0.567000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 71 15 0 0 0.003163 0 0 LRPPRC 10128 broad.mit.edu 37 2 44121759 44121759 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:44121759C>T uc002rtr.2 - 35 3968 c.3910G>A c.(3910-3912)Gtg>Atg p.V1304M NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 1304 RNA-binding. mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACAGATTTCACAGTTGATGCC 0.279000 195 178 0 0 0.003610 0 0 GFAP 2670 broad.mit.edu 37 17 42988735 42988735 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:42988735C>T uc021tyh.1 - 5 1062 c.996G>A c.(994-996)gaG>gaA p.E332E GFAP_uc002ihq.3_Silent_p.E332E|GFAP_uc002ihr.3_Silent_p.E332E|GFAP_uc010wjg.2_Non-coding_Transcript NM_001242376 NP_001229305 P14136 GFAP_HUMAN Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA. 332 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) GCCCCTCTTCCTCCAGCCGCG 0.652000 20 32 0 0 0.002096 0 0 TPO 7173 broad.mit.edu 37 2 1480956 1480956 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:1480956G>A uc002qwr.3 + 7 1004 c.918G>A c.(916-918)ggG>ggA p.G306G TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G306G|TPO_uc002qwx.3_Silent_p.G306G|TPO_uc002qwu.3_Silent_p.G306G|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.G306G NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 306 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) CGCTCTTTGGGAACCTGTCCA 0.711000 25 17 0 0 0.004990 0 0 CERS5 91012 broad.mit.edu 37 12 50524405 50524405 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:50524405G>A uc001rwd.4 - 9 1119 c.1102C>T c.(1102-1104)Ccc>Tcc p.P368S CERS5_uc001rwc.3_3'UTR|CERS5_uc001rwe.4_Missense_Mutation_p.P309S|CERS5_uc001rwf.4_Non-coding_Transcript NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN Homo sapiens ceramide synthase 5 (CERS5), mRNA. 368 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTGTCACAGGGACTTTTTGTG 0.517000 65 30 0 0 0.007291 0 0 TC2N 123036 broad.mit.edu 37 14 92268603 92268603 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:92268603C>T uc001xzu.4 - 3 655 c.464G>A c.(463-465)gGa>gAa p.G155E TC2N_uc001xzt.4_Missense_Mutation_p.G155E|TC2N_uc010auc.3_Missense_Mutation_p.G155E|TC2N_uc001xzv.4_Missense_Mutation_p.G155E NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 155 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CATACCCGATCCATACAGTCT 0.358000 29 18 0 0 0.001523 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55239185 55239185 + Missense_Mutation SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:55239185T>G uc002qgu.1 + 3 482 c.464T>G c.(463-465)cTg>cGg p.L155R NM_153443 NP_703144 Q8N743 KI3L3_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA. 155 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CGCTTCCTTCTGCACAGAGAG 0.582000 1 45 0 0 0.003610 0 0 C8B 732 broad.mit.edu 37 1 57417853 57417853 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:57417853C>T uc001cyp.3 - 5 601 c.534_splice c.e5-1 p.G178_splice C8B_uc010oon.2_Splice_Site_p.G116_splice|C8B_uc010ooo.2_Splice_Site_p.G126_splice NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 178 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACAAATTTATCCTGTGAGGAA 0.448000 6 61 0 0 0.003610 0 0 CDH4 1002 broad.mit.edu 37 20 60485588 60485588 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:60485588C>T uc002ybn.2 + 8 1387 c.1299C>T c.(1297-1299)atC>atT p.I433I CDH4_uc002ybr.2_Silent_p.I396I|CDH4_uc002ybp.2_Silent_p.I359I NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 433 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACCGCATCATCAGTGGGGATC 0.602000 21 23 0 0 0.003954 0 0 SMOC1 64093 broad.mit.edu 37 14 70478208 70478208 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:70478208G>A uc001xlt.2 + 8 1146 c.864G>A c.(862-864)gtG>gtA p.V288V SMOC1_uc001xls.2_Silent_p.V288V NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 288 Thyroglobulin type-1 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CCAGCTACGTGATGCCCAGTT 0.582000 45 50 0 0 0.003610 0 0 DNAH11 8701 broad.mit.edu 37 7 21894070 21894070 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:21894070G>A uc003svc.3 + 68 11251 c.11220G>A c.(11218-11220)ttG>ttA p.L3740L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3740 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 AATTCTCTTTGAAGGTAATGC 0.338000 Kartagener syndrome 62 23 0 0 0.005443 0 0 LMBR1L 55716 broad.mit.edu 37 12 49491488 49491488 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:49491488G>T uc001rth.4 - 16 1779 c.1437C>A c.(1435-1437)ttC>ttA p.F479L DHH_uc001rtf.3_5'Flank|LMBR1L_uc001rtg.4_Missense_Mutation_p.F474L|LMBR1L_uc001rti.4_Missense_Mutation_p.F459L NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA. 479 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATGCCTGGGGGAAACCGGAGA 0.607000 OREG0021783 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 32 1.42033e-22 1.8424e-22 0.004289 1 0 LMF1 64788 broad.mit.edu 37 16 984245 984245 + Splice_Site SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:984245G>A uc021tae.1 - 3 518 c.514_splice c.e3+1 p.G172_splice LMF1_uc010uuu.2_Splice_Site|LMF1_uc021tad.1_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Splice_Site|LMF1_uc010uuv.1_Non-coding_Transcript NM_022773 NP_073610 Q96S06 LMF1_HUMAN Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA. 172 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) CTCACTTACCGAAAGAGTACC 0.458000 31 21 0 0 0.003330 0 0 BIRC7 79444 broad.mit.edu 37 20 61869964 61869965 + Missense_Mutation DNP CC TT TT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:61869964_61869965CC>TT uc002yej.3 + 3 748_749 c.575_576CC>TT c.(574-576)tcc>tTT p.S192F BIRC7_uc010gkc.1_Missense_Mutation_p.S192F|BIRC7_uc002yei.3_Missense_Mutation_p.S192F|MIR3196_uc021wga.1_5'Flank NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA. 192 DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) GTGGCCCCCTCCGGTGAGAGCT 0.658000 62 48 0 0 0.004672 0 0 TRIM68 55128 broad.mit.edu 37 11 4621725 4621725 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:4621725G>A uc001lzf.2 - 6 1529 c.1239C>T c.(1237-1239)atC>atT p.I413I TRIM68_uc010qyj.2_Non-coding_Transcript NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN Homo sapiens tripartite motif containing 68 (TRIM68), mRNA. 413 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) GCAAGGACAGGATTGGGTACT 0.537000 54 24 0 0 0.007291 0 0 ODZ3 55714 broad.mit.edu 37 4 183245358 183245358 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:183245358G>A uc003ivd.1 + 0 260 c.185G>A c.(184-186)aGa>aAa p.R62K ODZ3_uc021xux.1_Missense_Mutation_p.R62K|ODZ3_uc010irv.1_Missense_Mutation_p.R62K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 62 Teneurin N-terminal. signal transduction integral to membrane p.R62K(2) 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) TACGGCAACAGAGTGAAGGAT 0.473000 28 23 0 0 0.005443 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711920 140711920 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:140711920G>A uc003lji.2 + 0 1669 c.1669G>A c.(1669-1671)Gac>Aac p.D557N PCDHGC5_uc011dan.2_Missense_Mutation_p.D557N NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 559 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) GGACCAGAACGACAACGCGCC 0.642000 12 110 0 0 0.003610 0 0 RANBP2 5903 broad.mit.edu 37 2 109400092 109400092 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:109400092C>T uc002tem.4 + 28 9536 c.9410C>T c.(9409-9411)tCc>tTc p.S3137F NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 3137 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GGCGGACAGTCCATTTATGGA 0.328000 58 33 0 0 0.004289 0 0 GALNT13 114805 broad.mit.edu 37 2 155099233 155099233 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:155099233G>A uc002tyt.4 + 3 605 c.501G>A c.(499-501)gaG>gaA p.E167E GALNT13_uc002tyr.4_Silent_p.E167E|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 167 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L166I(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGACATTAGAGAATTACGTGA 0.338000 19 16 0 0 0.007413 0 0 CACNG4 27092 broad.mit.edu 37 17 65021058 65021058 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:65021058G>A uc002jft.2 + 2 435 c.387G>A c.(385-387)agG>agA p.R129R NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA. 129 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GTGCTGGCAGGATCTACAGCC 0.687000 70 62 0 0 0.003610 0 0 NTRK3 4916 broad.mit.edu 37 15 88476248 88476248 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:88476248G>A uc002bme.2 - 15 2190 c.1884C>T c.(1882-1884)ttC>ttT p.F628F NTRK3_uc002bmh.2_Silent_p.F620F|NTRK3_uc002bmf.2_Silent_p.F628F|NTRK3_uc021sua.1_Silent_p.F620F|NTRK3_uc010upl.1_Silent_p.F530F|NTRK3_uc010bnh.1_Silent_p.F620F NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 628 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTACCTGAGGAACTTATTCA 0.512000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 22 23 0 0 0.006320 0 0 IFI27 3429 broad.mit.edu 37 14 94582839 94582839 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:94582839C>T uc021sba.1 + 4 458 c.335C>T c.(334-336)gCg>gTg p.A112V NM_001130080 NP_001123552 P40305 IFI27_HUMAN Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA. 112 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway integral to membrane|mitochondrion breast(1)|lung(3) 4 Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206) TCTGCCATTGCGGCTGTCATT 0.602000 30 10 0 0 0.000978 0 0 TACR2 6865 broad.mit.edu 37 10 71174766 71174766 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:71174766C>T uc001jpn.2 - 1 1117 c.522G>A c.(520-522)atG>atA p.M174I NM_001057 NP_001048 P21452 NK2R_HUMAN Homo sapiens tachykinin receptor 2 (TACR2), mRNA. 174 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) CACCCTGGTCCATGGTGACGG 0.642000 10 61 0 0 0.003610 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798067 55798067 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:55798067C>T uc010riw.2 + 0 173 c.173C>T c.(172-174)cCc>cTc p.P58L NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) CTTCAAATTCCCATGTATTAT 0.343000 19 25 0 0 0.003954 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517871 158517871 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:158517871C>T uc010pil.2 - 0 25 c.25G>A c.(25-27)Gat>Aat p.D9N NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GTATGATTATCTACTTCCAGA 0.433000 75 17 0 0 0.004990 0 0 NFAT5 10725 broad.mit.edu 37 16 69681273 69681274 + Missense_Mutation DNP CC TT TT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:69681273_69681274CC>TT uc002exm.2 + 2 878_879 c.542_543CC>TT c.(541-543)tcc>tTT p.S181F NFAT5_uc002exj.2_Missense_Mutation_p.S105F|NFAT5_uc002exk.2_Missense_Mutation_p.S105F|NFAT5_uc002exl.2_Missense_Mutation_p.S199F|NFAT5_uc002exn.2_Missense_Mutation_p.S199F|NFAT5_uc002exh.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.S105F NM_006599 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA. 181 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GATTCCCCCTCCAACTTCAGTA 0.510000 40 30 0 0 0.004672 0 0 POM121C 100101267 broad.mit.edu 37 7 75050949 75050950 + Missense_Mutation DNP GG AA AA TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:75050949_75050950GG>AA uc003udk.4 - 12 3470_3471 c.2585_2586CC>TT c.(2584-2586)acc>aTT p.T862I NM_001099415 NP_001092885 A8CG34 P121C_HUMAN Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA. 1104 Pore side (Potential).|Thr-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TGAAAGCTCCGGTGGTGGCGCT 0.649000 27 26 0 0 0.004672 0 0 TTC18 118491 broad.mit.edu 37 10 75072323 75072323 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:75072323G>A uc009xrc.3 - 10 1322 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L TTC18_uc001jty.3_Silent_p.L401L|TTC18_uc009xrd.1_Silent_p.L209L NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 401 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTGGACAGCAGAGAATTAATT 0.368000 12 86 0 0 0.003610 0 0 SYT5 6861 broad.mit.edu 37 19 55687136 55687136 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:55687136C>T uc002qjm.1 - 3 1541 c.481G>A c.(481-483)Gag>Aag p.E161K SYT5_uc002qjp.2_Missense_Mutation_p.E158K|SYT5_uc002qjn.1_Missense_Mutation_p.E161K|SYT5_uc002qjo.1_Missense_Mutation_p.E161K NM_003180 NP_003171 O00445 SYT5_HUMAN Homo sapiens synaptotagmin V (SYT5), mRNA. 161 C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ACCTTGGTCTCGTACCGCCTC 0.607000 26 64 0 0 0.003610 0 0 MYOM2 9172 broad.mit.edu 37 8 2054311 2054311 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:2054311G>A uc003wpx.4 + 22 3060 c.2922G>A c.(2920-2922)aaG>aaA p.K974K MYOM2_uc011kwi.2_Silent_p.K399K NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 974 Ig-like C2-type 3. muscle contraction myosin filament structural constituent of muscle p.D973N(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) ATCCGGATAAGGAGGATTTAG 0.408000 14 14 0 0 0.002450 0 0 ACLY 47 broad.mit.edu 37 17 40063734 40063734 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:40063734G>A uc002hyg.3 - 6 871 c.708C>T c.(706-708)atC>atT p.I236I ACLY_uc002hyh.3_Silent_p.I236I|ACLY_uc002hyi.3_Silent_p.I290I|ACLY_uc010wfx.2_Silent_p.I290I|ACLY_uc010wfy.2_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 236 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GAGGGAACTCGATGTCACCCC 0.587000 98 36 0 0 0.002522 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935417 151935417 + Silent SNP G A A rs149076914 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:151935417G>A uc022chl.1 - 0 750 c.750C>T c.(748-750)ttC>ttT p.F250F MAGEA3_uc004fgp.3_Silent_p.F250F NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 250 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGCACGAAATGTTGGG 0.537000 5 93 0 0 0.003610 0 0 KIAA0355 9710 broad.mit.edu 37 19 34833128 34833128 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:34833128G>A uc002nvd.4 + 9 3148 c.2289G>A c.(2287-2289)caG>caA p.Q763Q NM_014686 NP_055501 O15063 K0355_HUMAN Homo sapiens KIAA0355 (KIAA0355), mRNA. 763 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CATCCCAGCAGCCAGCGCAGG 0.587000 62 118 0 0 0.003610 0 0 TRPC4 7223 broad.mit.edu 37 13 38266355 38266355 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:38266355G>A uc010abx.3 - 3 1250 c.1015C>T c.(1015-1017)Ctt>Ttt p.L339F TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.L339F|TRPC4_uc001uws.3_Missense_Mutation_p.L339F|TRPC4_uc010tey.2_Missense_Mutation_p.L339F|TRPC4_uc010abw.3_Missense_Mutation_p.L166F|TRPC4_uc010aby.3_Missense_Mutation_p.L339F NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 339 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) ACAGGAAAAAGAAGTCCTATT 0.478000 16 45 0 0 0.002852 0 0 ADAM18 8749 broad.mit.edu 37 8 39467034 39467034 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:39467034G>A uc003xni.3 + 4 353 c.298G>A c.(298-300)Gaa>Aaa p.E100K ADAM18_uc003xnh.3_Missense_Mutation_p.E100K|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E100K NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 100 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.E100K(2) 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) ATATGCTGCCGAATTTCCAAA 0.323000 20 25 0 0 0.008361 0 0 DNAH5 1767 broad.mit.edu 37 5 13754446 13754446 + Splice_Site SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:13754446G>A uc003jfd.2 - 62 10462 c.10420_splice c.e62-1 p.T3474_splice DNAH5_uc003jfc.2_Splice_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3474 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCAAGCAAGGTCTAACAAAG 0.423000 Kartagener syndrome 71 44 0 0 0.003610 0 0 ARAP2 116984 broad.mit.edu 37 4 36130312 36130312 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:36130312T>C uc003gsq.2 - 20 3821 c.3483A>G c.(3481-3483)gaA>gaG p.E1161E NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1161 Rho-GAP. 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 TCTCCAGGAGTTCACTTATAT 0.328000 17 28 0 0 0.008361 0 0 ITGA5 3678 broad.mit.edu 37 12 54798975 54798975 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:54798975C>T uc001sga.3 - 11 1268 c.1200G>A c.(1198-1200)ggG>ggA p.G400G ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 400 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GGTCCAGGTCCCCCAGGGGGG 0.602000 78 23 0 0 0.003330 0 0 SKIL 6498 broad.mit.edu 37 3 170108058 170108058 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:170108058G>A uc003fgu.3 + 4 2189 c.1477G>A c.(1477-1479)Gcc>Acc p.A493T SKIL_uc011bps.2_Missense_Mutation_p.A473T|SKIL_uc003fgv.3_Missense_Mutation_p.A447T|SKIL_uc003fgw.3_Missense_Mutation_p.A493T NM_005414 NP_005405 P12757 SKIL_HUMAN Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA. 493 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development PML body|cytoplasm SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATCTGAGTCTGCCACTTGCAA 0.368000 37 28 0 0 0.007291 0 0 SHANK2 22941 broad.mit.edu 37 11 70332945 70332945 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:70332945C>T uc001oqc.3 - 20 3367 c.3255G>A c.(3253-3255)agG>agA p.R1085R SHANK2_uc010rqn.2_Silent_p.R561R|SHANK2_uc001opz.3_Silent_p.R556R|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. 772 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) TTTCGGGCTCCCTGGGCGTGG 0.677000 60 20 0 0 0.008871 0 0 TMEM181 57583 broad.mit.edu 37 6 158957847 158957847 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:158957847C>T uc003qrm.4 + 0 380 c.369C>T c.(367-369)taC>taT p.Y123Y TMEM181_uc010kjr.1_5'UTR NM_020823 NP_065874 Q9P2C4 TM181_HUMAN Homo sapiens transmembrane protein 181 (TMEM181), mRNA. 123 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GGGAAGCGTACCGCGAGCTCA 0.726000 3 38 0 0 0.002852 0 0 CDH8 1006 broad.mit.edu 37 16 61689414 61689414 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:61689414G>A uc002eog.2 - 10 2821 c.1866C>T c.(1864-1866)ggC>ggT p.G622G NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 622 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G622G(4) 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) CAATTAAGGCGCCCATACTGA 0.448000 29 37 0 0 0.004878 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562320 32562320 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:32562320C>T uc001wrl.3 + 1 2684 c.2445C>T c.(2443-2445)tcC>tcT p.S815S ARHGAP5_uc001wrm.3_Silent_p.S815S|ARHGAP5_uc001wrn.3_Silent_p.S815S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 815 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGAATAATTCCCTAATGCTTG 0.388000 55 48 0 0 0.003610 0 0 TRIP6 7205 broad.mit.edu 37 7 100468309 100468309 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:100468309C>T uc003uww.3 + 5 1113 c.943C>T c.(943-945)Cgc>Tgc p.R315C TRIP6_uc010lhk.2_Missense_Mutation_p.R49C|TRIP6_uc022aiv.1_Missense_Mutation_p.R294C|TRIP6_uc022ait.1_Missense_Mutation_p.R49C|TRIP6_uc022aiu.1_Missense_Mutation_p.R49C NM_003302 NP_003293 Q15654 TRIP6_HUMAN Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA. 315 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCAGCTTCGCGGCCAGCA 0.617000 73 43 0 0 0.008740 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172358 47172358 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:47172358G>A uc001rpi.2 - 10 1318 c.919C>T c.(919-921)Cat>Tat p.H307Y SLC38A4_uc001rpj.2_Missense_Mutation_p.H307Y NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 307 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCACTGTCATGAAGAGAGCCC 0.478000 33 18 0 0 0.007413 0 0 ADD1 118 broad.mit.edu 37 4 2899946 2899946 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:2899946C>T uc003gfq.3 + 6 965 c.777C>T c.(775-777)tcC>tcT p.S259S ADD1_uc010ico.1_Silent_p.S259S|ADD1_uc003gfo.3_Silent_p.S259S|ADD1_uc003gfp.3_Silent_p.S259S|ADD1_uc003gfr.3_Silent_p.S259S|ADD1_uc003gfs.3_Silent_p.S259S|ADD1_uc003gft.3_Silent_p.S259S|ADD1_uc003gfu.3_Silent_p.S9S NM_014189 NP_054908 P35611 ADDA_HUMAN Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA. 259 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) TGCCAATCTCCCCGGAGGCGC 0.463000 74 39 0 0 0.003214 0 0 SERPINA3 12 broad.mit.edu 37 14 95080941 95080941 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:95080941G>A uc001ydp.3 + 1 322 c.163G>A c.(163-165)Gac>Aac p.D55N SERPINA3_uc001ydo.4_Missense_Mutation_p.D80N|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.D55N|SERPINA3_uc001yds.3_Missense_Mutation_p.D55N NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 55 D -> S (in Ref. 12; AA sequence). acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.V54G(1) NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CGCCAACGTGGACTTCGCTTT 0.567000 90 51 0 0 0.003610 0 0 DNAH11 8701 broad.mit.edu 37 7 21788221 21788221 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:21788221G>A uc003svc.3 + 52 8586 c.8555G>A c.(8554-8556)cGa>cAa p.R2852Q NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2852 AAA 4 (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 CGGATCTTACGAACCCCTCAG 0.522000 Kartagener syndrome 37 24 0 0 0.002780 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 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) TCTTAACTTACTGTTGTGAAA 0.418000 47 5 0 0 0.001168 0 0 LOC81691 81691 broad.mit.edu 37 16 20856428 20856428 + Missense_Mutation SNP G C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:20856428G>C uc002dhy.4 + 17 2364 c.1989G>C c.(1987-1989)aaG>aaC p.K663N ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Missense_Mutation_p.K663N|LOC81691_uc002dhx.3_Missense_Mutation_p.K632N NM_001199053 NP_001185982 Q96IC2 REXON_HUMAN Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA. 663 RRM 2. nucleolus RNA binding|exonuclease activity|nucleotide binding endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1) 18 TCACAGGCAAGGACTGGAAGC 0.537000 33 21 0 0 0.003330 0 0 ART1 417 broad.mit.edu 37 11 3681025 3681025 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:3681025G>A uc001lye.1 + 2 377 c.276G>A c.(274-276)agG>agA p.R92R ART1_uc009yeb.1_Silent_p.R92R NM_004314 NP_004305 P52961 NAR1_HUMAN Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA. 92 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GTCAGGCCAGGTGGCCAGAGT 0.652000 15 15 0 0 0.004990 0 0 C16orf88 400506 broad.mit.edu 37 16 19721848 19721848 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:19721848C>T uc002dgq.3 - 3 1063 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA. 350 Interaction with ZFP106 (By similarity). nucleolus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 13 TTCCTGGTTTCAGAAGCTTCC 0.592000 80 75 0 0 0.003610 0 0 HMCN1 83872 broad.mit.edu 37 1 185984530 185984530 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:185984530G>A uc001grq.1 + 30 5099 c.4870G>A c.(4870-4872)Gct>Act p.A1624T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1624 Ig-like C2-type 13. A -> V. 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 AGCCAATGTTGCTGGAACTGC 0.373000 78 26 0 0 0.007291 0 0 C15orf2 23742 broad.mit.edu 37 15 24921296 24921296 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:24921296C>T uc001ywo.3 + 0 756 c.282C>T c.(280-282)atC>atT p.I94I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 94 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) GGCTGGCCATCAGGAAGACAC 0.672000 36 31 0 0 0.003755 0 0 SCN5A 6331 broad.mit.edu 37 3 38647508 38647508 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:38647508G>A uc021wvo.1 - 8 1324 c.1272C>T c.(1270-1272)atC>atT p.I424I SCN5A_uc021wvk.1_Silent_p.I424I|SCN5A_uc021wvl.1_Silent_p.I424I|SCN5A_uc021wvm.1_Silent_p.I424I|SCN5A_uc021wvn.1_Silent_p.I424I|SCN5A_uc021wvp.1_Silent_p.I424I|SCN5A_uc021wvq.1_Silent_p.I424I|SCN5A_uc021wvr.1_Silent_p.I424I|SCN5A_uc021wvs.1_Silent_p.I424I|SCN5A_uc021wvt.1_Silent_p.I424I|SCN5A_uc021wvu.1_Silent_p.I424I|SCN5A_uc021wvv.1_Silent_p.I424I|SCN5A_uc021wvj.1_Silent_p.I290I|SCN5A_uc021wvi.1_Silent_p.I290I|SCN5A_uc021wvw.1_Silent_p.I35I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 424 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGGTCTCAGCGATGGTGGCTT 0.552000 6 42 0 0 0.003610 0 0 ESRP1 54845 broad.mit.edu 37 8 95709087 95709087 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:95709087C>T uc003ygq.4 + 14 2162 c.1979C>T c.(1978-1980)aCc>aTc p.T660I ESRP1_uc003ygr.4_Missense_Mutation_p.T656I|ESRP1_uc003ygs.4_Intron|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Intron|ESRP1_uc003ygw.3_Missense_Mutation_p.P450S NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 660 RNA splicing|mRNA processing|regulation of RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TAGTATGCAACCGAGGATGGA 0.383000 92 111 0 0 0.003610 0 0 TRRAP 8295 broad.mit.edu 37 7 98513439 98513439 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:98513439C>T uc003upp.3 + 18 2502 c.2293C>T c.(2293-2295)Cgc>Tgc p.R765C TRRAP_uc011kis.2_Missense_Mutation_p.R765C|TRRAP_uc003upr.3_Missense_Mutation_p.R457C NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 765 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) GGCGCTGTTTCGCTCTATTGG 0.527000 53 43 0 0 0.002852 0 0 PEG3 5178 broad.mit.edu 37 19 57325196 57325197 + Missense_Mutation DNP GG AA AA TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:57325196_57325197GG>AA uc002qnu.2 - 6 4964_4965 c.4613_4614CC>TT c.(4612-4614)gcc>gTT p.A1538V 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.A1509V|PEG3_uc002qnv.2_Missense_Mutation_p.A1538V|PEG3_uc002qnw.2_Missense_Mutation_p.A1414V|PEG3_uc002qnx.2_Missense_Mutation_p.A1412V|PEG3_uc010etr.2_Missense_Mutation_p.A1538V NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1538 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) ACTCCCCAAAGGCATTTGCAGG 0.495000 68 23 0 0 0.004672 0 0 KALRN 8997 broad.mit.edu 37 3 124149562 124149562 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:124149562C>T uc003ehg.3 + 15 2890 c.2763C>T c.(2761-2763)agC>agT p.S921S KALRN_uc010hrv.1_Silent_p.S921S|KALRN_uc003ehf.1_Silent_p.S921S|KALRN_uc011bjy.1_Silent_p.S921S|KALRN_uc003ehh.1_Silent_p.S267S NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 921 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCAATGCCAGCTCTTTGTCGG 0.577000 42 31 0 0 0.002096 0 0 LILRB4 11006 broad.mit.edu 37 19 55174488 55174488 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:55174488G>A uc002qgp.3 + 0 365 c.3G>A c.(1-3)atG>atA p.M1I LILRB4_uc002qgo.1_Missense_Mutation_p.M42I|LILRB4_uc002qgq.3_Missense_Mutation_p.M1I|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.M42I|LILRB4_uc010eru.3_Missense_Mutation_p.M42I NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 1 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGACGCCATGATCCCCACCT 0.617000 OREG0003670 type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 32 51 0 0 0.003610 0 0 RAI2 10742 broad.mit.edu 37 X 17819064 17819064 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:17819064G>A uc022btm.1 - 0 1067 c.1067C>T c.(1066-1068)cCc>cTc p.P356L RAI2_uc004cyf.3_Missense_Mutation_p.P356L|RAI2_uc004cyg.3_Missense_Mutation_p.P356L|RAI2_uc011miy.2_Missense_Mutation_p.P306L|RAI2_uc022btl.1_Missense_Mutation_p.P356L|RAI2_uc004cyh.4_Missense_Mutation_p.P356L|RAI2_uc010nfa.3_Missense_Mutation_p.P356L NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 356 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TGTCTCAGGGGGAGGCTCGGA 0.562000 4 47 0 0 0.003214 0 0 CHL1 10752 broad.mit.edu 37 3 447381 447382 + Missense_Mutation DNP CC TT TT rs150211430 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:447381_447382CC>TT uc003bot.3 + 27 4304_4305 c.3662_3663CC>TT c.(3661-3663)ccc>cTT p.P1221L CHL1_uc003bou.3_Missense_Mutation_p.P1205L|CHL1_uc011asi.2_Missense_Mutation_p.P1168L NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 1205 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GCAACTTTTCCCCTTCGGGCAT 0.421000 17 29 0 0 0.004672 0 0 CDCA7L 55536 broad.mit.edu 37 7 21948053 21948053 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:21948053C>T uc010kuk.3 - 3 496 c.376G>A c.(376-378)Gat>Aat p.D126N CDCA7L_uc003sve.4_Missense_Mutation_p.D92N|CDCA7L_uc010kul.3_Missense_Mutation_p.D80N|CDCA7L_uc003svf.4_Missense_Mutation_p.D125N NM_018719 NP_001120842 Q96GN5 CDA7L_HUMAN Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA. 126 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus p.D126Y(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GTAGCCTTATCTTCTTCTTCA 0.438000 48 39 0 0 0.004878 0 0 LCT 3938 broad.mit.edu 37 2 136566094 136566094 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:136566094C>T uc002tuu.1 - 7 3834 c.3823G>A c.(3823-3825)Gga>Aga p.G1275R NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1275 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) AGCCCCACTCCGTTTTCGGTG 0.502000 110 97 0 0 0.003610 0 0 IL18R1 8809 broad.mit.edu 37 2 103013101 103013101 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:103013101C>T uc002tbw.4 + 10 1531 c.1381C>T c.(1381-1383)Cat>Tat p.H461Y IL18R1_uc010ywd.2_Missense_Mutation_p.H305Y|IL18R1_uc010fiy.3_Missense_Mutation_p.H461Y|IL18R1_uc010ywc.2_Missense_Mutation_p.H460Y NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 461 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AAGTGGACTCCATGAAGCATT 0.343000 26 29 0 0 0.005443 0 0 CELSR3 1951 broad.mit.edu 37 3 48669784 48669784 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:48669784G>A uc003cuf.1 - 40 10694 c.10694C>T c.(10693-10695)tCc>tTc p.S3565F CELSR3_uc003cug.3_Missense_Mutation_p.S139F|CELSR3_uc011bbp.2_Intron|CELSR3_uc010hke.3_Missense_Mutation_p.S11F|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Missense_Mutation_p.S160F|CELSR3_uc003cui.3_Missense_Mutation_p.S160F|CELSR3_uc003cuj.3_Missense_Mutation_p.S160F NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 0 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGGGCCAGGGATTCTGTCAC 0.607000 1 15 0 0 0.002450 0 0 POTEE 445582 broad.mit.edu 37 2 132021420 132021420 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:132021420C>T uc002tsn.2 + 14 2444 c.2392C>T c.(2392-2394)Ccc>Tcc p.P798S PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.P398S|POTEE_uc002tsl.2_Missense_Mutation_p.P380S|POTEE_uc010fmy.1_Missense_Mutation_p.P262S NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 798 Actin-like. ATP binding GCGTGTGGCTCCCGAGGAGCA 0.587000 163 76 0 0 0.003610 0 0 IL3 3562 broad.mit.edu 37 5 131396672 131396672 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:131396672C>T uc003kwe.1 + 1 228 c.175C>T c.(175-177)Ctc>Ttc p.L59F NM_000588 NP_000579 P08700 IL3_HUMAN Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA. 59 cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2) 10 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) CTTCAACAACCTCAATGGGGA 0.552000 4 48 0 0 0.003610 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965356 7965356 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:7965356G>A uc002mir.3 + 2 2050 c.1949G>A c.(1948-1950)cGg>cAg p.R650Q NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA. 650 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 GAGCACGTGCGGAAGCTCAGG 0.627000 16 5 0 0 0.001168 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866371 131866371 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:131866371C>T uc003vra.4 - 17 3490 c.3261G>A c.(3259-3261)gaG>gaA p.E1087E NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1087 IPT/TIG 3. 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 CGTTCAGAACCTCACAGATCT 0.597000 44 15 0 0 0.004007 0 0 RLTPR 146206 broad.mit.edu 37 16 67690334 67690334 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:67690334C>T uc002etn.3 + 34 3942 c.3822C>T c.(3820-3822)tcC>tcT p.S1274S RLTPR_uc010vjr.2_Silent_p.S1238S NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 1274 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CAGACCCTTCCTGCAGACCTG 0.617000 19 11 0 0 0.008291 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655756 138655757 + Missense_Mutation DNP TG AC AC TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:138655756_138655757TG>AC uc003qhu.3 + 32 5944_5945 c.5773_5774TG>AC c.(5773-5775)tgt>ACt p.C1925T NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1925 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) CCTGGAGAACTGTATGGAGGAG 0.564000 23 15 0 0 0.004672 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145771133 145771133 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:145771133G>A uc003zds.1 - 6 2576 c.2021C>T c.(2020-2022)cCc>cTc p.P674L ARHGAP39_uc011llk.1_Missense_Mutation_p.P674L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P674L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 674 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 GCTGGAGCTGGGAACGCCGCT 0.642000 17 13 0 0 0.002450 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872309 51872309 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:51872309A>T uc002xwo.3 + 1 3199 c.2312A>T c.(2311-2313)aAa>aTa p.K771I TSHZ2_uc021wex.1_Missense_Mutation_p.K768I NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 771 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACCAAGTCCAAAAGCAAGAAA 0.552000 53 55 0 0 0.003610 0 0 DNAH10 196385 broad.mit.edu 37 12 124401217 124401217 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:124401217A>C uc001uft.4 + 61 10607 c.10582A>C c.(10582-10584)Acc>Ccc p.T3528P NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3528 AAA 5 (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) GTACCTGAACACCAAGCTGGC 0.423000 5 30 0 0 0.006320 0 0 ZNF841 284371 broad.mit.edu 37 19 52570755 52570755 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:52570755T>C uc010ydh.1 - 6 840 c.380A>G c.(379-381)gAa>gGa p.E127G ZNF841_uc002pyl.1_Missense_Mutation_p.E11G NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN Homo sapiens zinc finger protein 841 (ZNF841), mRNA. 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GTAAAAATTTTCAGTGTCATA 0.368000 2 6 0 0 0.001984 0 0 TCRBV3S1 0 broad.mit.edu 37 7 142428739 142428739 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:142428739G>A uc011ksk.1 + 1 116 c.99G>A c.(97-99)agG>agA p.R33R TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR SubName: Full=V_segment translation product; Flags: Fragment; TAGTCAAAAGGACGGGAGAGA 0.473000 44 20 0 0 0.007413 0 0 PRSS1 5644 broad.mit.edu 37 7 142458528 142458528 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:142458528G>A uc003wak.2 + 1 180 c.163G>A c.(163-165)Gaa>Aaa p.E55K TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.R30Q|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 55 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCTCATCAACGAACAGTGGGT 0.572000 136 62 0 0 0.003610 0 0 SLC39A6 25800 broad.mit.edu 37 18 33706538 33706538 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:33706538G>A uc010dmy.3 - 1 723 c.433C>T c.(433-435)Ctt>Ttt p.L145F SLC39A6_uc002kzj.2_Intron NM_012319 NP_001092876 Q13433 S39A6_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA. 145 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 TCTGGGCAAAGAGCTTTTCGC 0.473000 24 34 0 0 0.002096 0 0 NBEAP1 606 broad.mit.edu 37 15 20874840 20874840 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:20874840A>C uc010tze.1 - 2 505 c.298T>G c.(298-300)Tat>Gat p.Y100D NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. CAGGATTAATAACCCAGTAGT 0.353000 89 18 0 0 0.008871 0 0 EXOC7 23265 broad.mit.edu 37 17 74081767 74081767 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:74081767G>A uc002jqs.3 - 14 1855 c.1760C>T c.(1759-1761)tCc>tTc p.S587F EXOC7_uc002jqp.2_5'Flank|EXOC7_uc010dgv.2_Missense_Mutation_p.S461F|EXOC7_uc010wsv.2_Missense_Mutation_p.S508F|EXOC7_uc010wsw.2_Missense_Mutation_p.S559F|EXOC7_uc002jqq.3_Missense_Mutation_p.S536F|EXOC7_uc010wsx.2_Missense_Mutation_p.S528F|EXOC7_uc002jqr.3_Missense_Mutation_p.S505F NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA. 587 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) CTTCTCCAGGGACTTGAGGAT 0.587000 65 63 0 0 0.003610 0 0 CDKL2 8999 broad.mit.edu 37 4 76529088 76529088 + Silent SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:76529088A>C uc011cbp.2 - 5 1233 c.708T>G c.(706-708)gcT>gcG p.A236A CDKL2_uc003hiq.3_Silent_p.A236A|CDKL2_uc010iix.1_Non-coding_Transcript NM_003948 NP_003939 Q92772 CDKL2_HUMAN Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA. 236 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACCTTACTCCAGCAAACACAG 0.368000 58 24 0 0 0.002299 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626444 80626444 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:80626444G>A uc003pja.4 - 5 1145 c.826C>T c.(826-828)Cca>Tca p.P276S ELOVL4_uc011dyt.2_Non-coding_Transcript NM_022726 NP_073563 Q9GZR5 ELOV4_HUMAN Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA. 276 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups p.P276P(1) central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CCAGCTTTTGGTTTCTTAGGC 0.378000 6 56 0 0 0.003610 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282495 52282495 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:52282495G>T uc001rzd.3 + 1 467 c.289G>T c.(289-291)Ggg>Tgg p.G97W ANKRD33_uc001rzh.4_Missense_Mutation_p.G97W|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CTGCAGGCTGGGGGCCCTGTA 0.642000 837 9 0.00448238 0.00567445 0.004482 1 0 DSP 1832 broad.mit.edu 37 6 7584183 7584183 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:7584183C>T uc003mxp.1 + 23 6967 c.6688C>T c.(6688-6690)Ccg>Tcg p.P2230S DSP_uc003mxq.1_Missense_Mutation_p.P1631S|DSP_uc021yle.1_Missense_Mutation_p.P1787S NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2230 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TATATTGAGACCGTCCACTGT 0.463000 39 72 0 0 0.003610 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79080695 79080695 + Silent SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:79080695T>G uc002bej.4 - 7 1411 c.1200A>C c.(1198-1200)ggA>ggC p.G400G ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.G400G NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 400 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CATTGCCGCTTCCGTCATGCT 0.652000 81 71 0 0 0.003610 0 0 ARID5A 10865 broad.mit.edu 37 2 97217463 97217463 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:97217463C>T uc002swe.3 + 6 1298 c.1198C>T c.(1198-1200)Cat>Tat p.H400Y ARID5A_uc010yuq.2_Missense_Mutation_p.H348Y|ARID5A_uc002swf.3_Missense_Mutation_p.H236Y|ARID5A_uc002swg.3_Missense_Mutation_p.H348Y NM_212481 NP_997646 Q03989 ARI5A_HUMAN Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA. 400 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TTCTGCGTTCCATAAAGGTGG 0.632000 25 21 0 0 0.002299 0 0 ABCB11 8647 broad.mit.edu 37 2 169828445 169828445 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:169828445C>T uc002ueo.1 - 13 1676 c.1550G>A c.(1549-1551)cGc>cAc p.R517H ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_5'UTR NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 517 ABC transporter 1. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TCTGCCATAGCGAATATTTTC 0.478000 61 61 0 0 0.003610 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51646022 51646022 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:51646022G>A uc002pvv.1 + 0 465 c.396G>A c.(394-396)tgG>tgA p.W132* SIGLEC7_uc002pvw.1_Nonsense_Mutation_p.W132*|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Nonsense_Mutation_p.W132* NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 132 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) ATATAAAATGGAATTATAAAT 0.478000 38 17 0 0 0.006122 0 0 PLXNA4 91584 broad.mit.edu 37 7 131829942 131829942 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:131829942C>T uc003vra.4 - 28 5390 c.5161G>A c.(5161-5163)Gat>Aat p.D1721N PLXNA4_uc003vqz.4_Missense_Mutation_p.D6N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1721 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 GCCTGCTCATCCAGGAAGTCA 0.562000 83 43 0 0 0.003610 0 0 POLD1 5424 broad.mit.edu 37 19 50905516 50905516 + Missense_Mutation SNP C G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:50905516C>G uc010eny.3 + 4 645 c.644C>G c.(643-645)gCg>gGg p.A215G POLD1_uc002psb.4_Missense_Mutation_p.A215G|POLD1_uc002psc.4_Missense_Mutation_p.A215G|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 215 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) ATCACCGTGGCGCTGCCGCGC 0.706000 DNA polymerases (catalytic subunits) 18 36 0 0 0.004289 0 0 BNC1 646 broad.mit.edu 37 15 83926808 83926808 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:83926808A>T uc002bjt.1 - 4 2459 c.2371T>A c.(2371-2373)Ttc>Atc p.F791I BNC1_uc010uos.1_Missense_Mutation_p.F779I NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 791 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GCTGCACGGAAATGATCTTCA 0.448000 58 64 0 0 0.003610 0 0 DSC2 1824 broad.mit.edu 37 18 28660129 28660129 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:28660129C>T uc002kwl.4 - 9 1907 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K DSC2_uc002kwk.4_Missense_Mutation_p.E485K NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 485 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTTCCCACTTCTGCATTTTCT 0.393000 68 29 0 0 0.002096 0 0 HUNK 30811 broad.mit.edu 37 21 33318448 33318448 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:33318448G>A uc002yph.3 + 3 1071 c.711G>A c.(709-711)agG>agA p.R237R NM_014586 NP_055401 P57058 HUNK_HUMAN Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA. 237 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TGCTCGCCAGGAAGAAATACG 0.532000 45 51 0 0 0.003610 0 0 DLG2 1740 broad.mit.edu 37 11 83676394 83676394 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:83676394G>A uc001paj.2 - 7 1162 c.859C>T c.(859-861)Cct>Tct p.P287S DLG2_uc001pai.2_Missense_Mutation_p.P236S|DLG2_uc010rsy.1_Missense_Mutation_p.P254S|DLG2_uc021qof.1_Missense_Mutation_p.P326S|DLG2_uc010rsz.1_Missense_Mutation_p.P287S|DLG2_uc010rta.1_Missense_Mutation_p.P287S|DLG2_uc001pak.2_Missense_Mutation_p.P392S|DLG2_uc010rtb.1_Missense_Mutation_p.P254S|DLG2_uc001pal.1_Missense_Mutation_p.P287S|DLG2_uc001pam.2_Missense_Mutation_p.P326S NM_001364 NP_001355 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA. 287 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding 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) GGACCATAAGGATCAGTCATA 0.368000 6 36 0 0 0.004878 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40825991 40825991 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:40825991T>C uc002iau.2 - 2 726 c.259A>G c.(259-261)Aaa>Gaa p.K87E PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Missense_Mutation_p.K87E NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA. 87 signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GGCAGCCCTTTCTCCGGGATG 0.622000 12 23 0 0 0.004656 0 0 OR4A15 81328 broad.mit.edu 37 11 55136129 55136129 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:55136129G>A uc010rif.2 + 0 770 c.770G>A c.(769-771)aGt>aAt p.S257N NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q256K(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 AAGACTCAGAGTTTGGAAGGG 0.443000 78 22 0 0 0.001882 0 0 SLC28A1 9154 broad.mit.edu 37 15 85461793 85461793 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:85461793C>T uc002blg.3 + 9 1036 c.834C>T c.(832-834)tcC>tcT p.S278S SLC28A1_uc010upd.1_Silent_p.S200S|SLC28A1_uc010bnb.3_Silent_p.S278S|SLC28A1_uc010upe.2_Silent_p.S278S|SLC28A1_uc010upf.1_Silent_p.S278S|SLC28A1_uc010upg.1_Silent_p.S278S NM_004213 NP_004204 O00337 S28A1_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA. 278 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGTCATATCCGTTCTCTACC 0.577000 115 80 0 0 0.003610 0 0 OR4A5 81318 broad.mit.edu 37 11 51411637 51411637 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:51411637G>A uc001nhi.2 - 0 812 c.759C>T c.(757-759)ttC>ttT p.F253F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TAACATATATGAAAATACAGG 0.393000 29 17 0 0 0.004007 0 0 GPX5 2880 broad.mit.edu 37 6 28493858 28493858 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:28493858C>T uc003nll.2 + 0 70 c.68C>T c.(67-69)cCc>cTc p.P23L GPX5_uc003nlm.2_Missense_Mutation_p.P23L|GPX5_uc003nln.2_5'Flank NM_001509 NP_001500 O75715 GPX5_HUMAN Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA. 23 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) CAAACAAGTCCCAAGCAGGAG 0.502000 189 80 0 0 0.003610 0 0 MXRA5 25878 broad.mit.edu 37 X 3239210 3239210 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:3239210T>A uc004crg.4 - 4 4673 c.4516A>T c.(4516-4518)Acc>Tcc p.T1506S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1506 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) GTGGTGGTGGTTTGTCCCAAA 0.473000 6 61 0 0 0.003610 0 0 FMN2 56776 broad.mit.edu 37 1 240371023 240371023 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:240371023C>T uc010pye.2 + 5 3148 c.2923C>T c.(2923-2925)Ccc>Tcc p.P975S FMN2_uc010pyd.2_Missense_Mutation_p.P971S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 971 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) TCCCCCTCTTCCCGGAGCAGG 0.706000 17 12 0 0 0.000978 0 0 FLT3 2322 broad.mit.edu 37 13 28609648 28609648 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:28609648G>A uc001urw.3 - 11 1663 c.1581C>T c.(1579-1581)atC>atT p.I527I FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.I527I NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 527 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.T526T(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AGTTTAAAAGGATCGTCTCAC 0.453000 """Mis, O""" """AML, ALL""" 79 17 0 0 0.002299 0 0 HYDIN 54768 broad.mit.edu 37 16 71015379 71015379 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:71015379G>A uc002ezr.3 - 28 4573 c.4422C>T c.(4420-4422)atC>atT p.I1474I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1475 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) CCAGGTGGGCGATCTGTATCT 0.478000 65 78 0 0 0.003610 0 0 OR5B3 441608 broad.mit.edu 37 11 58170430 58170430 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:58170430G>A uc010rkf.2 - 0 453 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGGCATTCAGGAAACCACAGA 0.478000 53 18 0 0 0.008871 0 0 AIP 9049 broad.mit.edu 37 11 67256900 67256900 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:67256900C>T uc001olv.3 + 2 567 c.442C>T c.(442-444)Ctc>Ttc p.L148F NM_003977 NP_003968 O00170 AIP_HUMAN Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA. 148 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 CCCCCAGCCCCTCATCTTCCA 0.682000 Familial Isolated Pituitary Adenoma 56 16 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179404420 179404420 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179404420C>T uc021vsy.1 - 300 90893 c.90668G>A c.(90667-90669)aGg>aAg p.R30223K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R23918K|TTN_uc021vta.1_Missense_Mutation_p.R23851K|TTN_uc021vtb.1_Missense_Mutation_p.R23726K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31150 Fibronectin type-III 120. 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) TCCTATCACCCTGACCTTGAT 0.498000 68 57 0 0 0.003610 0 0 QTRTD1 79691 broad.mit.edu 37 3 113786847 113786847 + Silent SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:113786847A>C uc003eaz.3 + 3 392 c.306A>C c.(304-306)tcA>tcC p.S102S QTRTD1_uc003eay.3_Silent_p.S90S|QTRTD1_uc011biq.2_Intron|QTRTD1_uc011bir.2_Intron|QTRTD1_uc003eba.3_Intron NM_024638 NP_078914 Q9H974 QTRD1_HUMAN Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA. 90 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 TGCCAGAATCACTCTTGTACT 0.473000 66 21 0 0 0.002299 0 0 SERPINA13 388007 broad.mit.edu 37 14 95108180 95108180 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:95108180G>A uc001ydt.3 + 1 785 c.697G>A c.(697-699)Gag>Aag p.E233K Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 CGGGGCCTGGGAGAAGGACCT 0.582000 123 84 0 0 0.003610 0 0 KCNA6 3742 broad.mit.edu 37 12 4919936 4919936 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:4919936G>A uc001qng.3 + 0 1595 c.729G>A c.(727-729)atG>atA p.M243I KCNA6_uc021qtr.1_Missense_Mutation_p.M243I NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 243 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 CTGGGGAAATGGGGACCGGGG 0.547000 HNSCC(72;0.22) 94 42 0 0 0.003610 0 0 OR1S2 219958 broad.mit.edu 37 11 57971343 57971343 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:57971343G>A uc010rkb.2 - 0 311 c.311C>T c.(310-312)tCc>tTc p.S104F NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) ATAAGAGATGGATTGGCTGTT 0.438000 36 94 0 0 0.003610 0 0 RXFP1 59350 broad.mit.edu 37 4 159493978 159493978 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:159493978G>A uc003ipz.3 + 1 441 c.178G>A c.(178-180)Gac>Aac p.D60N RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Missense_Mutation_p.D60N|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.D60N|RXFP1_uc010iqm.3_Missense_Mutation_p.D60N|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 60 LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GGCCGATGAGGACAACTGTGG 0.527000 27 14 0 0 0.003163 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390573 61390573 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:61390573C>T uc002ljk.4 + 8 1287 c.1116C>T c.(1114-1116)ttC>ttT p.F372F SERPINB11_uc010xes.2_Silent_p.F198F|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.F259F|SERPINB11_uc010dqe.3_Silent_p.F172F|SERPINB11_uc010dqf.3_Silent_p.F171F NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 373 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CCTTCCTTTTCTTTATAAGGC 0.527000 11 70 0 0 0.003610 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634890 70634890 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:70634890G>A uc001xly.3 - 1 1004 c.250C>T c.(250-252)Ctg>Ttg p.L84L SLC8A3_uc001xlw.3_Silent_p.L84L|SLC8A3_uc001xlx.3_Silent_p.L84L|SLC8A3_uc001xlz.3_Silent_p.L84L|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. 84 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) ATGTATATCAGGGCCACAAAA 0.502000 25 20 0 0 0.007413 0 0 KLHL20 27252 broad.mit.edu 37 1 173703375 173703375 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:173703375C>T uc001gjc.3 + 2 726 c.547C>T c.(547-549)Cgt>Tgt p.R183C KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.R165C|KLHL20_uc001gjd.3_Missense_Mutation_p.R183C NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA. 183 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 ACATTCATGTCGTGAGTTGCT 0.448000 47 53 0 0 0.003610 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717495 222717495 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:222717495C>T uc001hnh.1 - 1 416 c.358G>A c.(358-360)Gaa>Aaa p.E120K NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 120 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) TGGGTGTTTTCGGCGTCGTAG 0.567000 285 224 0 0 0.003610 0 0 DCLK2 166614 broad.mit.edu 37 4 151114356 151114356 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:151114356C>T uc003ilo.4 + 2 1577 c.823C>T c.(823-825)Cgt>Tgt p.R275C DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R275C|DCLK2_uc003iln.4_Missense_Mutation_p.R275C NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 275 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) AGAAAAATTTCGTTATGCCCA 0.368000 42 27 0 0 0.002445 0 0 AASS 10157 broad.mit.edu 37 7 121755150 121755150 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:121755150C>T uc003vka.3 - 7 1117 c.1021G>A c.(1021-1023)Ggc>Agc p.G341S AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.G341S|AASS_uc011knw.2_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA. 341 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GCAGGGCAGCCTTCCACACCA 0.483000 78 41 0 0 0.007835 0 0 PSG4 5672 broad.mit.edu 37 19 43414736 43414736 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:43414736G>A uc002ovj.1 - 2 801 c.702C>T c.(700-702)ctC>ctT p.L234L PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.L234L NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 235 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) ACTCACGGAGGAGATTCAGGG 0.517000 160 52 0 0 0.003610 0 0 TLE2 7089 broad.mit.edu 37 19 3005503 3005503 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:3005503C>T uc010dth.3 - 16 2094 c.1831G>A c.(1831-1833)Gac>Aac p.D611N TLE2_uc010xhb.2_Missense_Mutation_p.D277N|TLE2_uc002lww.3_Missense_Mutation_p.D610N|TLE2_uc010xhc.2_Missense_Mutation_p.D488N|TLE2_uc010dti.3_Missense_Mutation_p.D624N NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 610 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) ACCGTGTTGTCCAGGCCCCCT 0.657000 9 11 0 0 0.001368 0 0 PLXNA4 91584 broad.mit.edu 37 7 131831426 131831426 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:131831426C>T uc003vra.4 - 27 5127 c.4898G>A c.(4897-4899)aGc>aAc p.S1633N PLXNA4_uc003vqz.4_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1633 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 TGAGCGGAGGCTGTCGGGGCT 0.577000 252 88 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140739802 140739802 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:140739802C>T uc003ljs.2 + 0 100 c.100C>T c.(100-102)Cgc>Tgc p.R34C PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.R34C NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 32 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) AGTCCAGATCCGCTATTCAAT 0.612000 OREG0016857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 15 0 0 0.002450 0 0 MARCH9 92979 broad.mit.edu 37 12 58152541 58152541 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:58152541C>A uc001spx.2 + 3 1333 c.902C>A c.(901-903)gCt>gAt p.A301D MARCH9_uc001spy.3_Missense_Mutation_p.A188D NM_138396 NP_612405 Q86YJ5 MARH9_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA. 301 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CGCCCCCCAGCTGCCCAGCGC 0.667000 7 6 0.00116845 0.00148097 0.001168 1 0 ANXA6 309 broad.mit.edu 37 5 150502500 150502500 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:150502500G>A uc003ltl.2 - 15 1439 c.1211C>T c.(1210-1212)aCc>aTc p.T404I ANXA6_uc011dcp.2_Missense_Mutation_p.T372I|ANXA6_uc003lto.2_Intron NM_001155 NP_001180473 P08133 ANXA6_HUMAN Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA. 404 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGACTTGAAGGTCTGCCGGAT 0.562000 2 40 0 0 0.007835 0 0 NDST4 64579 broad.mit.edu 37 4 115769380 115769380 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:115769380C>T uc003ibu.3 - 8 2610 c.1931G>A c.(1930-1932)gGa>gAa p.G644E NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 644 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCAGTCTATTCCTTTGTGATA 0.333000 28 21 0 0 0.003330 0 0 OR51I1 390063 broad.mit.edu 37 11 5462079 5462079 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:5462079C>T uc010qze.2 - 0 705 c.666G>A c.(664-666)ttG>ttA p.L222L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTCAGGATCAATGCGTAGG 0.468000 27 9 0 0 0.004482 0 0 APOC3 345 broad.mit.edu 37 11 116703480 116703480 + Splice_Site SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:116703480G>A uc001ppt.1 + 4 226 c.180_splice c.e4-1 p.R60_splice NM_000040 NP_000031 P02656 APOC3_HUMAN Homo sapiens apolipoprotein C-III (APOC3), mRNA. 60 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACTGATTTAGGGGCTGGGTGA 0.552000 24 83 0 0 0.003610 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296616 39296616 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:39296616C>T uc010cxk.2 - 0 124 c.124G>A c.(124-126)Gtg>Atg p.V42M NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 42 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CAGCTGGACACACAGCAGCTG 0.677000 73 6 0 0 0.003080 0 0 CPD 1362 broad.mit.edu 37 17 28776659 28776659 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:28776659C>T uc002hfb.2 + 12 3019 c.2962C>T c.(2962-2964)Cgt>Tgt p.R988C CPD_uc010wbo.2_Missense_Mutation_p.R741C|CPD_uc010wbp.2_Non-coding_Transcript NM_001304 NP_001295 O75976 CBPD_HUMAN Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. 988 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding p.R988C(2) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 ACCAAAGATTCGTTTTGTTGC 0.438000 112 32 0 0 0.002096 0 0 ARID1A 8289 broad.mit.edu 37 1 27056144 27056144 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:27056144A>G uc001bmv.1 + 1 1513 c.1140A>G c.(1138-1140)ccA>ccG p.P380P ARID1A_uc001bmt.1_Silent_p.P380P|ARID1A_uc001bmu.1_Silent_p.P380P|ARID1A_uc001bmw.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 380 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTTTGTAGCCATCCAGTCCAA 0.473000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 57 0 0 0.003610 0 0 SLC1A7 6512 broad.mit.edu 37 1 53580624 53580624 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:53580624G>A uc021onn.1 - 2 405 c.237C>T c.(235-237)tcC>tcT p.S79S SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Silent_p.S79S|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Silent_p.S79S|AX748428_uc001cva.1_Non-coding_Transcript NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 79 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) TGGCATCCAGGGAGGCAAGTC 0.652000 0 19 0 0 0.001523 0 0 OR4C13 283092 broad.mit.edu 37 11 49974029 49974029 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:49974029C>T uc010rhz.2 + 0 87 c.55C>T c.(55-57)Cca>Tca p.P19S NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TACAGAGAATCCAAAAATGCA 0.363000 53 22 0 0 0.001882 0 0 MYH13 8735 broad.mit.edu 37 17 10267773 10267773 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:10267773G>A uc002gmk.1 - 2 165 c.75C>T c.(73-75)atC>atT p.I25I NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 25 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTTGAGCCTCGATTCTCTCCT 0.478000 8 19 0 0 0.007413 0 0 KCNK9 51305 broad.mit.edu 37 8 140630827 140630827 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:140630827T>A uc003yvf.1 - 1 863 c.799A>T c.(799-801)Aac>Tac p.N267Y KCNK9_uc003yvg.1_Missense_Mutation_p.N267Y|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 267 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CTGTTGCGGTTTCCGGCGAGG 0.632000 25 38 0 0 0.002222 0 0 LNX2 222484 broad.mit.edu 37 13 28136654 28136654 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:28136654A>G uc001url.4 - 4 1429 c.1120T>C c.(1120-1122)Ttg>Ctg p.L374L LNX2_uc001urm.1_Silent_p.L374L NM_153371 NP_699202 Q8N448 LNX2_HUMAN Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA. 374 PDZ 2. zinc ion binding p.L374fs*8(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) TGGGCAGCCAACCCCCCTTCC 0.537000 178 33 0 0 0.005524 0 0 DNAH5 1767 broad.mit.edu 37 5 13771068 13771068 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:13771068G>A uc003jfd.2 - 55 9437 c.9395C>T c.(9394-9396)tCc>tTc p.S3132F DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3132 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) AATATCATAGGAAGTGAGGAA 0.388000 Kartagener syndrome 29 42 0 0 0.006999 0 0 HSPA8 3312 broad.mit.edu 37 11 122931912 122931912 + Missense_Mutation SNP A G G rs75739900 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:122931912A>G uc001pyo.3 - 1 256 c.121T>C c.(121-123)Tat>Cat p.Y41H HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.Y41H|HSPA8_uc010rzu.2_Missense_Mutation_p.Y41H|HSPA8_uc009zbd.2_Missense_Mutation_p.Y41H|HSPA8_uc010rzv.1_Missense_Mutation_p.Y41H NM_006597 NP_006588 P11142 HSP7C_HUMAN Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA. 41 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding p.S40S(1) breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AAGGCGACATAGCTTGGAGTG 0.463000 26 4 0 0 0.000248 0 0 PLXNA4 91584 broad.mit.edu 37 7 131883255 131883255 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:131883255G>A uc003vra.4 - 12 2956 c.2727C>T c.(2725-2727)atC>atT p.I909I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 909 IPT/TIG 1. 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 GTTCTGCAGGGATGTAACCAT 0.547000 81 42 0 0 0.003214 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922161 78922161 + Silent SNP G A A rs80249872 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:78922161G>A uc002bed.1 - 4 598 c.486C>T c.(484-486)ttC>ttT p.F162F CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 162 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TCTGCTGGTCGAAGGGAAAGT 0.552000 37 35 0 0 0.002836 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589536 67589537 + Splice_Site DNP GG AA AA TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:67589536_67589537GG>AA uc003jva.3 + 11 1880 c.1300_splice c.e11-1 p.D434_splice PIK3R1_uc003jvc.3_Splice_Site_p.D134_splice|PIK3R1_uc003jvd.3_Splice_Site_p.D164_splice|PIK3R1_uc003jve.3_Splice_Site_p.D113_splice|PIK3R1_uc021xzn.1_Splice_Site_p.D71_splice|PIK3R1_uc011crb.2_Splice_Site_p.D104_splice NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 434 T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AATCTTTCTAGGATCAAGTTGT 0.252000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 6 18 0 0 0.004672 0 0 KCNH5 27133 broad.mit.edu 37 14 63174859 63174859 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:63174859G>A uc001xfx.3 - 10 2385 c.2334C>T c.(2332-2334)aaC>aaT p.N778N KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 778 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGGCATCACGGTTGTTCTGCT 0.493000 51 38 0 0 0.006999 0 0 abParts 0 broad.mit.edu 37 14 106641740 106641740 + RNA SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:106641740C>T uc021ser.1 - 1493 c.29645G>A Parts of antibodies, mostly variable regions. GTCCAGGGGCCTGTCGCACCC 0.547000 139 96 0 0 0.003610 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26094558 26094558 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:26094558G>A uc002wvj.4 - 0 120 c.65C>T c.(64-66)cCt>cTt p.P22L Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA. TACAGAGTGAGGAGGATAATG 0.413000 16 5 0 0 0.001984 0 0 RP1 6101 broad.mit.edu 37 8 55537822 55537822 + Silent SNP G A A rs143494598 by1000genomes TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:55537822G>A uc003xsd.1 + 3 1528 c.1380G>A c.(1378-1380)aaG>aaA p.K460K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 460 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) TGAGACAAAAGAAATCTGTGA 0.418000 26 31 0 0 0.001786 0 0 FLNC 2318 broad.mit.edu 37 7 128483367 128483367 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:128483367C>T uc003vnz.4 + 16 2844 c.2635C>T c.(2635-2637)Cgc>Tgc p.R879C FLNC_uc003voa.4_Missense_Mutation_p.R879C NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 879 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 TGGGCTGAATCGCACAGGTGA 0.647000 15 11 0 0 0.001855 0 0 TRPC4 7223 broad.mit.edu 37 13 38225438 38225438 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:38225438C>T uc010abx.3 - 7 2278 c.2043G>A c.(2041-2043)aaG>aaA p.K681K TRPC4_uc010abv.3_Silent_p.K261K|TRPC4_uc001uwt.3_Silent_p.K681K|TRPC4_uc001uws.3_Silent_p.K681K|TRPC4_uc010tey.2_Silent_p.K681K|TRPC4_uc010abw.3_Silent_p.K508K|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. 681 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 p.K681T(1) 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) TTCTTCTCATCTTTTTCTTGC 0.388000 25 51 0 0 0.003610 0 0 PTX4 390667 broad.mit.edu 37 16 1536423 1536423 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:1536423G>A uc010uvf.2 - 2 939 c.939C>T c.(937-939)acC>acT p.T313T NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN Homo sapiens pentraxin 4, long (PTX4), mRNA. 318 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CATTGTCCTCGGTGGCGTAGG 0.672000 45 48 0 0 0.003610 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631784 156631784 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:156631784G>A uc003iov.3 + 6 1003 c.467G>A c.(466-468)gGa>gAa p.G156E GUCY1A3_uc003iou.2_Missense_Mutation_p.G156E|GUCY1A3_uc010iqc.2_Missense_Mutation_p.G156E|GUCY1A3_uc010iqd.3_Missense_Mutation_p.G155E|GUCY1A3_uc003iow.3_Missense_Mutation_p.G156E|GUCY1A3_uc003iox.3_Missense_Mutation_p.G156E|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.G156E|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.G156E NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 156 VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GGGGTGGTTGGAGGCACCCTT 0.448000 26 22 0 0 0.004656 0 0 PES1 23481 broad.mit.edu 37 22 30980647 30980647 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:30980647G>A uc003aij.2 - 4 533 c.426C>T c.(424-426)ttC>ttT p.F142F PES1_uc003aik.2_Silent_p.F142F|PES1_uc003aio.1_Silent_p.F3F|PES1_uc003ain.1_Silent_p.F3F NM_014303 NP_055118 O00541 PESC_HUMAN Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA. 142 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 TGGAAAACAGGAAGCACATGG 0.607000 22 19 0 0 0.001523 0 0 MUC3A 4584 broad.mit.edu 37 7 100552951 100552951 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:100552951C>T uc003uxl.1 + 1 2096 c.1296C>T c.(1294-1296)cgC>cgT p.R432R MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTGGGGACCGCTGTCAGCTCC 0.562000 130 13 0 0 0.003954 0 0 OR6K3 391114 broad.mit.edu 37 1 158687796 158687796 + Missense_Mutation SNP A T T rs138237790 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:158687796A>T uc021pbn.1 - 0 110 c.110T>A c.(109-111)tTt>tAt p.F37Y NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AATGATAATAAAAGTATAGAT 0.368000 93 61 0 0 0.003610 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826148 43826148 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:43826148C>T uc010skx.2 - 20 3055 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K ADAMTS20_uc001rno.1_Missense_Mutation_p.E173K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E173K NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1019 TSP type-1 4. 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) CAGGAAAATTCATTGCAATTC 0.403000 38 17 0 0 0.004990 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756405 94756405 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:94756405C>T uc001yct.3 - 1 992 c.526G>A c.(526-528)Gag>Aag p.E176K SERPINA10_uc001ycu.4_Missense_Mutation_p.E176K NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 176 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AAGAAAGTCTCTTTGACATCA 0.453000 65 48 0 0 0.003610 0 0 EN1 2019 broad.mit.edu 37 2 119604516 119604516 + Silent SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:119604516T>G uc002tlm.3 - 0 1244 c.228A>C c.(226-228)ccA>ccC p.P76P NM_001426 NP_001417 Q05925 HME1_HUMAN Homo sapiens engrailed homeobox 1 (EN1), mRNA. 76 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 gcggggggtgtggggggaggt 0.751000 7 4 0 0 0.000602 0 0 CETP 1071 broad.mit.edu 37 16 57016084 57016084 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:57016084C>T uc002eki.2 + 13 1313 c.1256C>T c.(1255-1257)tCc>tTc p.S419F CETP_uc002ekj.2_Missense_Mutation_p.S359F NM_000078 NP_000069 P11597 CETP_HUMAN Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA. 419 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CAGAGCAGCTCCGAGTCCGTC 0.582000 62 49 0 0 0.003610 0 0 OR5H14 403273 broad.mit.edu 37 3 97869076 97869076 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:97869076C>T uc003dsg.1 + 0 847 c.847C>T c.(847-849)Cct>Tct p.P283S NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V282V(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTCATAGTTCCTTTATTAAA 0.373000 18 18 0 0 0.006122 0 0 DNAH11 8701 broad.mit.edu 37 7 21781628 21781628 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:21781628C>T uc003svc.3 + 49 8050 c.8019C>T c.(8017-8019)ttC>ttT p.F2673F NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2673 AAA 3 (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 GCTTCCATTTCCAACAGCAAG 0.398000 Kartagener syndrome 113 58 0 0 0.003610 0 0 ADAM23 8745 broad.mit.edu 37 2 207437857 207437857 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:207437857G>A uc002vbq.3 + 17 1898 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K ADAM23_uc010ziv.2_Non-coding_Transcript NM_003812 NP_003803 O75077 ADA23_HUMAN Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA. 559 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACGAGGGTATGAATGCCGGGA 0.368000 94 68 0 0 0.003610 0 0 MYO1G 64005 broad.mit.edu 37 7 45015141 45015141 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:45015141T>C uc003tmh.2 - 3 650 c.506A>G c.(505-507)aAc>aGc p.N169S MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.N54S|MYO1G_uc003tmi.1_Missense_Mutation_p.N81S|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN Homo sapiens myosin IG (MYO1G), mRNA. 169 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 GAAGTCAAAGTTGATGTCCAT 0.592000 32 25 0 0 0.003954 0 0 OR4N5 390437 broad.mit.edu 37 14 20612583 20612583 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:20612583C>T uc010tla.2 + 0 689 c.689C>T c.(688-690)tCt>tTt p.S230F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S229S(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GAGCACTCCTCTGAAGGAAAG 0.493000 67 65 0 0 0.003610 0 0 ADH1B 125 broad.mit.edu 37 4 100231927 100231927 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:100231927C>T uc003hus.4 - 7 1182 c.1098G>A c.(1096-1098)ggG>ggA p.G366G ADH1B_uc003hut.4_Silent_p.G326G|ADH1B_uc011ceh.2_Silent_p.G211G|ADH1B_uc011cei.1_Silent_p.G326G NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 366 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) TCTACCTTTTCCCAGAGTGAA 0.338000 40 13 0 0 0.001855 0 0 ZNF831 128611 broad.mit.edu 37 20 57768483 57768483 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:57768483G>A uc002yan.3 + 0 2409 c.2409G>A c.(2407-2409)caG>caA p.Q803Q NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 803 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) TGTGGGCCCAGACTGTCCTGA 0.632000 29 35 0 0 0.005524 0 0 LPO 4025 broad.mit.edu 37 17 56345253 56345253 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:56345253C>T uc002ivt.3 + 12 2353 c.2037C>T c.(2035-2037)gtC>gtT p.V679V LPO_uc010wns.2_Silent_p.V620V|LPO_uc010dcp.3_Silent_p.V596V|LPO_uc010dcq.3_Silent_p.V350V|LPO_uc010dcr.3_Silent_p.V242V NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 679 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCACCAAGGTCCCACGGGACC 0.552000 64 45 0 0 0.003610 0 0 TKTL2 84076 broad.mit.edu 37 4 164393850 164393850 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:164393850G>A uc003iqp.4 - 0 1198 c.1037C>T c.(1036-1038)aCg>aTg p.T346M NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 346 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGAGTTCATCGTGTCACCACT 0.423000 28 28 0 0 0.006320 0 0 RNF17 56163 broad.mit.edu 37 13 25353881 25353881 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:25353881G>A uc001upr.3 + 4 547 c.506G>A c.(505-507)gGa>gAa p.G169E RNF17_uc010tdd.1_Missense_Mutation_p.G28E|RNF17_uc010tde.2_Missense_Mutation_p.G169E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G108E|RNF17_uc001upq.1_Missense_Mutation_p.G169E NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 169 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) AGCATTGCTGGAAAAGTAAGC 0.383000 45 16 0 0 0.006122 0 0 OR4K5 79317 broad.mit.edu 37 14 20389662 20389662 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:20389662G>A uc010tkw.2 + 0 897 c.897G>A c.(895-897)agG>agA p.R299R NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 299 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) CTGCCGTAAGGAAAATTGTGA 0.383000 131 75 0 0 0.003610 0 0 ZNF560 147741 broad.mit.edu 37 19 9577336 9577336 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:9577336T>A uc002mlp.1 - 9 2497 c.2287A>T c.(2287-2289)Atg>Ttg p.M763L ZNF560_uc010dwr.1_Missense_Mutation_p.M657L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H762L(1)|p.H762D(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTCTCTCCCATATGAGTTCTT 0.443000 26 40 0 0 0.005524 0 0 GLP1R 2740 broad.mit.edu 37 6 39053729 39053729 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:39053729C>T uc003ooj.4 + 12 1332 c.1272C>T c.(1270-1272)caC>caT p.H424H 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. 424 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) GGCTTGAGCACTTGCACATCC 0.577000 206 77 0 0 0.003610 0 0 FLNC 2318 broad.mit.edu 37 7 128487776 128487776 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:128487776G>A uc003vnz.4 + 24 4523 c.4314G>A c.(4312-4314)aaG>aaA p.K1438K FLNC_uc003voa.4_Silent_p.K1438K NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1438 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 TGCCAGTGAAGGATGTGGTGG 0.637000 140 53 0 0 0.003610 0 0 ITFG1 81533 broad.mit.edu 37 16 47485329 47485329 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:47485329G>A uc002eet.3 - 4 597 c.538C>T c.(538-540)Cag>Tag p.Q180* ITFG1_uc010vgh.2_Nonsense_Mutation_p.Q67*|ITFG1_uc010cbf.1_Nonsense_Mutation_p.Q67* NM_030790 NP_110417 Q8TB96 TIP_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA. 180 extracellular region|integral to membrane p.N179N(1) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) ATCTGTGGCTGGTTGGATTCA 0.289000 35 21 0 0 0.003954 0 0 PCDH15 65217 broad.mit.edu 37 10 55849750 55849750 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:55849750G>A uc010qhy.1 - 16 2401 c.2006C>T c.(2005-2007)tCa>tTa p.S669L PCDH15_uc010qhq.2_Missense_Mutation_p.S669L|PCDH15_uc010qhr.2_Missense_Mutation_p.S664L|PCDH15_uc021pqv.1_Missense_Mutation_p.S664L|PCDH15_uc021pqw.1_Missense_Mutation_p.S676L|PCDH15_uc010qht.2_Missense_Mutation_p.S671L|PCDH15_uc021pqx.1_Missense_Mutation_p.S664L|PCDH15_uc001jjv.1_Missense_Mutation_p.S642L|PCDH15_uc021pqy.1_Missense_Mutation_p.S664L|PCDH15_uc021pqz.1_Missense_Mutation_p.S642L|PCDH15_uc010qhv.1_Missense_Mutation_p.S664L|PCDH15_uc010qhw.1_Missense_Mutation_p.S627L|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Missense_Mutation_p.S664L|PCDH15_uc010qia.1_Missense_Mutation_p.S642L|PCDH15_uc001jju.1_Missense_Mutation_p.S664L|PCDH15_uc010qib.1_Missense_Mutation_p.S642L|PCDH15_uc001jjw.3_Missense_Mutation_p.S664L NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 664 Cadherin 6. 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 p.G668R(1) 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) TTACGTTTCTGAAAGATTAAA 0.348000 HNSCC(58;0.16) 4 24 0 0 0.003330 0 0 GLI2 2736 broad.mit.edu 37 2 121726459 121726459 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:121726459T>C uc010flp.3 + 4 843 c.813T>C c.(811-813)ggT>ggC p.G271G GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.F142L|GLI2_uc010flo.1_Silent_p.G146G|GLI2_uc002tmw.1_Silent_p.G271G NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 271 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) CGGCCAGCGGTTCCTACGGGC 0.667000 43 15 0 0 0.004990 0 0 CSMD1 64478 broad.mit.edu 37 8 3205659 3205659 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:3205659C>T uc022aqr.1 - 21 3719 c.3329G>A c.(3328-3330)gGa>gAa p.G1110E CSMD1_uc011kwj.2_Missense_Mutation_p.G503E|CSMD1_uc003wqe.3_Missense_Mutation_p.G267E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1111 CUB 7. 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) TCCTTCATTTCCTTTGACACT 0.343000 31 6 0 0 0.001984 0 0 CIB3 117286 broad.mit.edu 37 19 16280480 16280480 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:16280480C>T uc002nds.3 - 2 159 c.159G>A c.(157-159)aaG>aaA p.K53K CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 53 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CGTAGGGCACCTTCACATCGG 0.552000 12 17 0 0 0.006122 0 0 EPHA4 2043 broad.mit.edu 37 2 222365881 222365881 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:222365881C>T uc002vmq.3 - 3 877 c.835G>A c.(835-837)Gga>Aga p.G279R EPHA4_uc002vmr.2_Missense_Mutation_p.G279R|EPHA4_uc010zlm.1_Missense_Mutation_p.G220R NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 279 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TTGTAATATCCAATTTTGCAA 0.488000 45 32 0 0 0.003755 0 0 DCC 1630 broad.mit.edu 37 18 51025846 51025846 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:51025846G>A uc002lfe.2 + 26 4693 c.4077G>A c.(4075-4077)ccG>ccA p.P1359P DCC_uc010dpf.2_Silent_p.P992P NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1359 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) CAATAGAACCGAAAGTCCCTT 0.448000 12 79 0 0 0.003610 0 0 TCTEX1D2 255758 broad.mit.edu 37 3 196044977 196044978 + Missense_Mutation DNP GG AT AT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:196044977_196044978GG>AT uc003fwi.3 - 0 188_189 c.46_47CC>AT c.(46-48)cct>ATt p.P16I TM4SF19_uc003fwj.3_Intron|AK124973_uc003fwk.1_5'Flank NM_152773 NP_689986 Q8WW35 TC1D2_HUMAN Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA. 16 protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1) 7 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CTCAGCCTCAGGCACCCCGTCG 0.663000 23 6 0 0 0.004672 0 0 SCAP 22937 broad.mit.edu 37 3 47459206 47459207 + Missense_Mutation DNP GG AA AA TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:47459206_47459207GG>AA uc003crh.1 - 16 2812_2813 c.2557_2558CC>TT c.(2557-2559)ccc>TTc p.P853F SCAP_uc011baz.1_Missense_Mutation_p.P597F|SCAP_uc003crg.2_Missense_Mutation_p.P460F NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 853 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GTGTCTCAGGGGAGGGCTGTCC 0.663000 2 39 0 0 0.004672 0 0 FOSL2 2355 broad.mit.edu 37 2 28635177 28635177 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:28635177C>T uc002rma.3 + 3 1652 c.843C>T c.(841-843)gtC>gtT p.V281V FOSL2_uc021vfg.1_Silent_p.V273V|FOSL2_uc010ymi.2_Silent_p.V242V NM_005253 NP_005244 P15408 FOSL2_HUMAN Homo sapiens FOS-like antigen 2 (FOSL2), mRNA. 281 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CGAACCTCGTCTTCACCTATC 0.617000 36 20 0 0 0.001523 0 0 CXorf61 203413 broad.mit.edu 37 X 115592967 115592967 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:115592967C>T uc004eqj.1 - 1 403 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_001017978 NP_001017978 Q5H943 KKLC1_HUMAN Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA. 95 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 AGAGTATGTTCCAGTTCAACC 0.433000 5 90 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21011761 21011761 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:21011761G>A uc010vbe.2 - 42 6206 c.6206C>T c.(6205-6207)cCa>cTa p.P2069L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2069 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) GAACAGCATTGGAATCTCATG 0.493000 38 40 0 0 0.006999 0 0 KIAA0319 9856 broad.mit.edu 37 6 24569076 24569076 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:24569076G>A uc011djo.2 - 12 2573 c.2073C>T c.(2071-2073)ttC>ttT p.F691F KIAA0319_uc011djp.2_Silent_p.F646F|KIAA0319_uc003neh.1_Silent_p.F691F|KIAA0319_uc011djq.1_Silent_p.F682F|KIAA0319_uc011djr.1_Silent_p.F691F|KIAA0319_uc010jpt.1_Silent_p.F102F NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 691 PKD 4. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTGTCAAACGGAAGTGGTAGG 0.542000 105 33 0 0 0.003271 0 0 NPY5R 4889 broad.mit.edu 37 4 164272160 164272160 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:164272160A>T uc003iqn.3 + 3 917 c.735A>T c.(733-735)aaA>aaT p.K245N NPY5R_uc021xtw.1_Missense_Mutation_p.K245N NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 245 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGTCCAACAAAGAAAACAGAC 0.388000 41 16 0 0 0.004007 0 0 CAMK2G 818 broad.mit.edu 37 10 75607051 75607051 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:75607051G>A uc001jvv.2 - 9 857 c.727C>T c.(727-729)Cag>Tag p.Q243* CAMK2G_uc001jvs.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvm.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvo.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvp.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvq.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvr.2_Nonsense_Mutation_p.Q251*|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA. 251 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) GTCAGCATCTGGTTGATCAAG 0.512000 4 38 0 0 0.005524 0 0 DYSF 8291 broad.mit.edu 37 2 71896828 71896828 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:71896828C>T uc010fen.3 + 50 5877 c.5736C>T c.(5734-5736)ttC>ttT p.F1912F DYSF_uc010fei.3_Silent_p.F1890F|DYSF_uc010feh.3_Silent_p.F1880F|DYSF_uc002sig.4_Silent_p.F1859F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F1904F|DYSF_uc010fee.3_Silent_p.F1894F|DYSF_uc010fef.3_Silent_p.F1911F|DYSF_uc002sie.3_Silent_p.F1873F|DYSF_uc010feo.3_Silent_p.F1905F|DYSF_uc010fej.3_Silent_p.F1881F|DYSF_uc010fel.3_Silent_p.F1860F|DYSF_uc010fem.3_Silent_p.F1895F|DYSF_uc002sif.3_Silent_p.F1874F|DYSF_uc010fek.3_Silent_p.F1891F|DYSF_uc010yqy.2_Silent_p.F754F|DYSF_uc010yqz.2_Silent_p.F634F NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1873 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGTTCATTTTCCCCTTCGACT 0.493000 74 44 0 0 0.002522 0 0 NALCN 259232 broad.mit.edu 37 13 101733929 101733929 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:101733929G>A uc001vox.1 - 33 4023 c.3834C>T c.(3832-3834)ctC>ctT p.L1278L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1278 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACGTCACCAGGAGATCGTATC 0.448000 27 55 0 0 0.003610 0 0 NLRP2 55655 broad.mit.edu 37 19 55501975 55501975 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:55501975G>A uc021vbq.1 + 9 2754 c.2643G>A c.(2641-2643)ggG>ggA p.G881G NLRP2_uc010yfp.2_Silent_p.G858G|NLRP2_uc002qij.3_Silent_p.G881G|NLRP2_uc010esp.3_Silent_p.G859G|NLRP2_uc010esn.3_Silent_p.G857G|NLRP2_uc010eso.3_Silent_p.G878G NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 881 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ACCCCATTGGGAATACAGGGG 0.542000 45 14 0 0 0.004990 0 0 CLDN11 5010 broad.mit.edu 37 3 170150445 170150445 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:170150445C>T uc003fgx.3 + 2 727 c.525C>T c.(523-525)atC>atT p.I175I CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Silent_p.I91I NM_005602 NP_001171985 O75508 CLD11_HUMAN Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. 175 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.V174D(1) central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GCTGTGTCATCCTCTGCTGCG 0.587000 103 86 0 0 0.003610 0 0 MAP1A 4130 broad.mit.edu 37 15 43815622 43815622 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:43815622G>A uc001zrt.3 + 3 2418 c.1951G>A c.(1951-1953)Gat>Aat p.D651N NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 651 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) AGTAAAGGAGGATGTGATAGA 0.473000 18 11 0 0 0.001855 0 0 ACVRL1 94 broad.mit.edu 37 12 52312839 52312839 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:52312839G>A uc001rzj.3 + 8 1600 c.1317G>A c.(1315-1317)aaG>aaA p.K439K ACVRL1_uc001rzk.3_Silent_p.K439K|ACVRL1_uc010snm.2_Silent_p.K265K NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 439 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) AGGACATGAAGAAGGTGGTGT 0.577000 52 666 0 0 0.003610 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378592 31378592 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:31378592C>T uc003tch.3 - 1 644 c.291G>A c.(289-291)caG>caA p.Q97Q NEUROD6_uc022abi.1_Silent_p.Q97Q NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 97 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CGTTCGCTTCCTGTCTCCTGA 0.488000 327 58 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82582200 82582200 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:82582200C>T uc003uhx.2 - 4 8358 c.8069G>A c.(8068-8070)gGt>gAt p.G2690D PCLO_uc003uhv.2_Missense_Mutation_p.G2690D|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2621 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 GCTGCTGAGACCAACACTAGG 0.413000 44 22 0 0 0.002780 0 0 CCP110 9738 broad.mit.edu 37 16 19548723 19548723 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:19548723G>T uc002dgl.4 + 3 1979 c.1732G>T c.(1732-1734)Gat>Tat p.D578Y CCP110_uc002dgk.4_Missense_Mutation_p.D578Y NM_001199022 NP_001185951 O43303 CP110_HUMAN Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA. 578 G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 ACAATTTTTGGATAACAGTTT 0.353000 56 56 1.59911e-31 2.07687e-31 0.003610 1 0 NBPF10 100132406 broad.mit.edu 37 1 144828683 144828683 + Missense_Mutation SNP C G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:144828683C>G uc009wig.1 + 21 2916 c.2722C>G c.(2722-2724)Cag>Gag p.Q908E NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 910 p.Q577E(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATTTGAGGAACAGCACATCAG 0.438000 221 32 0 0 0.002096 0 0 STK33 65975 broad.mit.edu 37 11 8435091 8435091 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:8435091C>T uc001mgi.1 - 10 2214 c.1295G>A c.(1294-1296)gGa>gAa p.G432E STK33_uc001mgj.1_Missense_Mutation_p.G432E|STK33_uc001mgk.1_Missense_Mutation_p.G432E|STK33_uc010rbn.1_Missense_Mutation_p.G391E|STK33_uc001mgl.3_Missense_Mutation_p.G245E NM_030906 NP_112168 Q9BYT3 STK33_HUMAN Homo sapiens serine/threonine kinase 33 (STK33), mRNA. 432 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) AGGGACATTTCCCCAGGGTTG 0.413000 159 65 0 0 0.003610 0 0 IKZF2 22807 broad.mit.edu 37 2 213872482 213872482 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:213872482C>T uc002vem.3 - 7 1352 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K IKZF2_uc010fuu.3_Missense_Mutation_p.E250K|IKZF2_uc002vej.3_Missense_Mutation_p.E342K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E321K|IKZF2_uc002vel.3_Missense_Mutation_p.E316K|IKZF2_uc010fuw.3_Missense_Mutation_p.E169K|IKZF2_uc010fux.3_Missense_Mutation_p.E169K|IKZF2_uc010fuy.3_Missense_Mutation_p.E323K|IKZF2_uc002ven.3_Missense_Mutation_p.E369K|IKZF2_uc002vei.3_Missense_Mutation_p.E173K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 395 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) GCCTCTCTTTCCTGGGGTCGA 0.498000 89 86 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 106653614 106653614 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:106653614G>A uc021ser.1 - 1432 c.28629C>T Parts of antibodies, mostly variable regions. AGAGTCTCAGGGACCCCCCAG 0.562000 58 45 0 0 0.002852 0 0 AK310441 0 broad.mit.edu 37 1 148891728 148891728 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:148891728G>A uc009wkv.1 + 8 c.1030G>A Homo sapiens cDNA, FLJ17483. ATGGTGATATGGATGATAGTC 0.348000 60 4 0 0 0.003080 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519764 69519764 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:69519764T>A uc021xow.1 - 4 1462 c.1304A>T c.(1303-1305)aAt>aTt p.N435I NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 435 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CACAGGGTCATTAATGACTGA 0.378000 61 92 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21073863 21073863 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:21073863C>T uc010vbe.2 - 24 3660 c.3660G>A c.(3658-3660)atG>atA p.M1220I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1220 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) CCGAGCTGATCATGCCCACAA 0.443000 52 48 0 0 0.003610 0 0 MOGAT3 346606 broad.mit.edu 37 7 100843533 100843533 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:100843533C>T uc003uyc.3 - 2 437 c.270G>A c.(268-270)agG>agA p.R90R MOGAT3_uc010lhr.3_Silent_p.R90R NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 90 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GATAATAATCCCTTAGTTGTC 0.557000 183 98 0 0 0.003610 0 0 CLRN2 645104 broad.mit.edu 37 4 17528529 17528529 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:17528529C>T uc003gpg.1 + 2 625 c.523C>T c.(523-525)Ctc>Ttc p.L175F NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN Homo sapiens clarin 2 (CLRN2), mRNA. 175 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 TCAGGAGAAGCTCTTCCAGTT 0.552000 21 38 0 0 0.004878 0 0 DNAH1 25981 broad.mit.edu 37 3 52412751 52412751 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:52412751C>T uc011bef.2 + 46 7593 c.7332C>T c.(7330-7332)tcC>tcT p.S2444S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 2444 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGGACCTCTCCAAGGTCTTCC 0.617000 7 84 0 0 0.003610 0 0 TTC29 83894 broad.mit.edu 37 4 147724760 147724760 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:147724760C>T uc003ikx.4 - 11 1507 c.1257G>A c.(1255-1257)atG>atA p.M419I TTC29_uc003ikw.4_Missense_Mutation_p.M393I|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.M393I NM_031956 NP_114162 Q8NA56 TTC29_HUMAN Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA. 393 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TTGTCTCATCCATCAGAGGCA 0.393000 10 4 0 0 0.000248 0 0 IMPG2 50939 broad.mit.edu 37 3 100986365 100986365 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:100986365C>T uc003duq.2 - 8 1101 c.898G>A c.(898-900)Gaa>Aaa p.E300K IMPG2_uc011bhe.2_Missense_Mutation_p.E163K NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 300 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTGTCATTTTCCTTGGGGGAC 0.358000 49 37 0 0 0.003214 0 0 OR8J3 81168 broad.mit.edu 37 11 55904831 55904831 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:55904831G>A uc010riz.2 - 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D121Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GCCACATAGCGGTCATAGGCC 0.502000 66 24 0 0 0.002299 0 0 ATAD2B 54454 broad.mit.edu 37 2 24107743 24107743 + Splice_Site SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:24107743C>A uc002rek.4 - 6 972 c.676_splice c.e6-1 p.E226_splice ATAD2B_uc002rei.4_Splice_Site_p.E226_splice|ATAD2B_uc010yki.2_Splice_Site|ATAD2B_uc010exx.2_Splice_Site_p.E226_splice NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA. 226 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCATGTTTTCCTTTTAAAGA 0.333000 14 9 5.68852e-11 7.29796e-11 0.004482 1 0 CA10 56934 broad.mit.edu 37 17 50008390 50008390 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:50008390G>A uc002itv.4 - 3 993 c.257C>T c.(256-258)cCc>cTc p.P86L CA10_uc002itw.4_Missense_Mutation_p.P80L|CA10_uc002itx.4_Missense_Mutation_p.P80L|CA10_uc002ity.4_Missense_Mutation_p.P80L|CA10_uc002itz.2_Missense_Mutation_p.P80L NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 80 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTCAGAAAGGGGTCGAAGAT 0.502000 187 177 0 0 0.003610 0 0 FAM71D 161142 broad.mit.edu 37 14 67671476 67671476 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:67671476G>A uc001xja.2 + 4 872 c.582G>A c.(580-582)acG>acA p.T194T FAM71D_uc010aqn.2_Non-coding_Transcript NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA. 194 breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CAGGAATTACGAATAGCACAG 0.498000 55 55 0 0 0.003610 0 0 AGBL2 79841 broad.mit.edu 37 11 47721024 47721024 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:47721024C>T uc001ngg.3 - 7 970 c.668G>A c.(667-669)gGa>gAa p.G223E AGBL2_uc010rhq.1_Missense_Mutation_p.G185E|AGBL2_uc001ngh.1_Missense_Mutation_p.G167E NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA. 223 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 GACAACTGTTCCTTTTTTCTC 0.328000 50 16 0 0 0.004990 0 0 SLC37A2 219855 broad.mit.edu 37 11 124947392 124947392 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:124947392C>T uc010sau.2 + 3 533 c.282C>T c.(280-282)ttC>ttT p.F94F SLC37A2_uc001qbn.3_Silent_p.F94F NM_198277 NP_938018 Q8TED4 SPX2_HUMAN Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA. 94 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) ACAACGCCTTCCTCATCGCCT 0.522000 0 8 0 0 0.004482 0 0 ADAM11 4185 broad.mit.edu 37 17 42854579 42854579 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:42854579C>T uc002ihh.3 + 20 1727 c.1727C>T c.(1726-1728)aCg>aTg p.T576M ADAM11_uc010wjd.2_Missense_Mutation_p.T376M|ADAM11_uc002ihi.3_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA. 576 Cys-rich. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GTGGAGGGGACGGAGCGTGGG 0.647000 14 25 0 0 0.006320 0 0 CCDC102B 79839 broad.mit.edu 37 18 66721273 66721273 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:66721273G>A uc002lkk.2 + 9 1664 c.1441G>A c.(1441-1443)Gat>Aat p.D481N CCDC102B_uc002lki.2_Missense_Mutation_p.D481N NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 481 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TCAGCTTGATGATTCCCTGAA 0.368000 5 61 0 0 0.003610 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588613 20588613 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:20588613C>T uc001ytg.3 - 26 4157 c.3448G>A c.(3448-3450)Gag>Aag p.E1150K HERC2P3_uc010tyx.1_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. p.E1150K(2) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTTGTATTCTCCTTCTCACAC 0.418000 34 9 0 0 0.006214 0 0 NLRC3 197358 broad.mit.edu 37 16 3614346 3614346 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:3614346A>C uc010btn.3 - 4 1003 c.592T>G c.(592-594)Ttc>Gtc p.F198V NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 198 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 ACGTGCGGGAAGACCGAGCAG 0.652000 21 10 0 0 0.008291 0 0 KCNJ2 3759 broad.mit.edu 37 17 68172103 68172103 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:68172103C>T uc010dfg.3 + 1 1324 c.923C>T c.(922-924)aCg>aTg p.T308M KCNJ2_uc002jir.3_Missense_Mutation_p.T308M|KCNJ2_uc021ucj.1_Missense_Mutation_p.T308M NM_000891 NP_000882 P63252 IRK2_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA. 308 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding p.T308M(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) ACTGCCATGACGACACAGTGC 0.463000 71 25 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179419596 179419596 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179419596G>A uc021vsy.1 - 279 81111 c.80886C>T c.(80884-80886)atC>atT p.I26962I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I20657I|TTN_uc021vta.1_Silent_p.I20590I|TTN_uc021vtb.1_Silent_p.I20465I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27889 Fibronectin type-III 96. 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) ACCTACCAAGGATCTGTACTC 0.398000 40 41 0 0 0.006999 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285640 44285640 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:44285640C>T uc010qfe.1 - 0 226 c.196G>A c.(196-198)Gta>Ata p.V66I Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. TCTCTCATTACCAGACAATCT 0.433000 2 23 0 0 0.002780 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298683 125298683 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:125298683C>T uc004euk.2 - 0 1398 c.1225G>A c.(1225-1227)Ggc>Agc p.G409S NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 409 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TTGAGCCAGCCTCTGCCGCAG 0.607000 3 102 0 0 0.003610 0 0 SLC4A10 57282 broad.mit.edu 37 2 162627549 162627549 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:162627549A>C uc002ubx.4 + 1 299 c.115A>C c.(115-117)Aaa>Caa p.K39Q SLC4A10_uc010fpa.1_Missense_Mutation_p.K51Q|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.K50Q|SLC4A10_uc002uby.4_Missense_Mutation_p.K39Q NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 39 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ACACTTTGAGAAAGAAGATTT 0.338000 7 11 0 0 0.001368 0 0 C14orf39 317761 broad.mit.edu 37 14 60950455 60950455 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:60950455C>T uc001xez.4 - 3 297 c.187G>A c.(187-189)Gat>Aat p.D63N C14orf39_uc010apo.3_Intron NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 63 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) CAGTAATGATCAATTTCCTCA 0.289000 21 18 0 0 0.007413 0 0 ISM1 140862 broad.mit.edu 37 20 13279935 13279935 + Silent SNP C G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:13279935C>G uc010gce.1 + 5 1230 c.1224C>G c.(1222-1224)acC>acG p.T408T TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA. 408 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 TCATCAGCACCGAGTTCTCCG 0.632000 10 13 0 0 0.001855 0 0 ACY3 91703 broad.mit.edu 37 11 67413303 67413303 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:67413303G>T uc001omq.3 - 3 463 c.292C>A c.(292-294)Cag>Aag p.Q98K NM_080658 NP_542389 Q96HD9 ACY3_HUMAN Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA. 98 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding p.Q98L(1) endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) CCCAGCAGCTGGTTCAGCTCT 0.607000 51 70 2.6465e-34 3.44996e-34 0.003610 1 0 DSCR4 10281 broad.mit.edu 37 21 39427007 39427007 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:39427007A>T uc002ywp.3 - 2 404 c.299T>A c.(298-300)cTc>cAc p.L100H NM_005867 NP_005858 P56555 DSCR4_HUMAN Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA. 100 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 TTTCTTGTGGAGCCCATGGAG 0.468000 64 52 0 0 0.003610 0 0 ASXL3 80816 broad.mit.edu 37 18 31325319 31325319 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:31325319G>A uc010dmg.1 + 11 5562 c.5507G>A c.(5506-5508)gGa>gAa p.G1836E ASXL3_uc002kxq.2_Missense_Mutation_p.G1543E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1836 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 AGGACTGTAGGAGAACACACT 0.483000 85 147 0 0 0.003610 0 0 STEAP3 55240 broad.mit.edu 37 2 120003121 120003121 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:120003121A>C uc002tlp.3 + 2 206 c.49A>C c.(49-51)Agc>Cgc p.S17R STEAP3_uc002tlq.3_Missense_Mutation_p.S27R|STEAP3_uc002tlr.3_Missense_Mutation_p.S17R|STEAP3_uc010fle.3_Missense_Mutation_p.S17R NM_018234 NP_060704 Q658P3 STEA3_HUMAN Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA. 17 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 breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CCTGGTGGACAGCGATAGTAG 0.617000 33 32 0 0 0.004289 0 0 PTPN23 25930 broad.mit.edu 37 3 47454615 47454615 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:47454615C>T uc003crf.1 + 24 4947 c.4851C>T c.(4849-4851)acC>acT p.T1617T PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.T1487T|BC067356_uc003cri.3_5'Flank NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA. 1617 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCGGGCCACCCGGCCCTCTG 0.592000 4 38 0 0 0.006230 0 0 KCNH6 81033 broad.mit.edu 37 17 61601708 61601708 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:61601708C>T uc002jay.3 + 1 365 c.285C>T c.(283-285)gaC>gaT p.D95D KCNH6_uc002jax.1_Silent_p.D95D|KCNH6_uc010wpl.2_Intron|KCNH6_uc010wpm.2_Silent_p.D95D|KCNH6_uc002jaz.1_Silent_p.D95D NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 95 PAC. 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) GCAAGGTGGACATCCTCTACT 0.637000 39 32 0 0 0.002096 0 0 FBXO47 494188 broad.mit.edu 37 17 37119224 37119224 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:37119224G>T uc002hrc.2 - 1 255 c.55C>A c.(55-57)Cgt>Agt p.R19S NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN Homo sapiens F-box protein 47 (FBXO47), mRNA. 19 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 CGATTACTACGTCTAAGTTTC 0.358000 75 30 2.47316e-13 3.18843e-13 0.003271 1 0 RGPD3 653489 broad.mit.edu 37 2 107040744 107040744 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:107040744C>T uc010ywi.1 - 19 3736 c.3679G>A c.(3679-3681)Ggt>Agt p.G1227S NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1227 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCGGCCGCACCTGTACCTGAA 0.413000 230 175 0 0 0.003610 0 0 ZNF484 83744 broad.mit.edu 37 9 95608527 95608527 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:95608527G>A uc004asu.1 - 4 2691 c.2542C>T c.(2542-2544)Caa>Taa p.Q848* ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.Q850*|ZNF484_uc004asv.1_Nonsense_Mutation_p.Q812*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.Q812* NM_031486 NP_001007102 Q5JVG2 ZN484_HUMAN Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA. 848 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GAAGAAAGTTGGCCTTGGTCA 0.428000 7 56 0 0 0.003610 0 0 MMRN1 22915 broad.mit.edu 37 4 90857607 90857607 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:90857607G>A uc003hst.3 + 5 2847 c.2776G>A c.(2776-2778)Gaa>Aaa p.E926K MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.E668K NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 926 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.E926K(2) 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) AACTCTCCACGAAGTTTTAAC 0.373000 20 29 0 0 0.005443 0 0 GRIK3 2899 broad.mit.edu 37 1 37271923 37271923 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:37271923G>A uc001caz.2 - 13 2231 c.2096C>T c.(2095-2097)tCc>tTc p.S699F GRIK3_uc001cba.1_Missense_Mutation_p.S699F NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 699 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) GGAGATCTTGGATTTCTGGGC 0.602000 0 12 0 0 0.001368 0 0 ODC1 4953 broad.mit.edu 37 2 10584663 10584663 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:10584663A>C uc010exg.1 - 3 647 c.213T>G c.(211-213)aaT>aaG p.N71K ODC1_uc002rao.1_Missense_Mutation_p.N71K|ODC1_uc010yjd.1_5'UTR NM_002539 NP_002530 P11926 DCOR_HUMAN Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA. 71 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) CTTTGCTATCATTACATTTGA 0.473000 37 36 0 0 0.005524 0 0 STAU1 6780 broad.mit.edu 37 20 47740959 47740959 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:47740959C>T uc002xud.3 - 6 1186 c.775G>A c.(775-777)Gaa>Aaa p.E259K STAU1_uc002xua.3_Missense_Mutation_p.E178K|STAU1_uc002xub.3_Missense_Mutation_p.E184K|STAU1_uc002xuc.3_Missense_Mutation_p.E178K|STAU1_uc002xue.3_Missense_Mutation_p.E178K|STAU1_uc002xuf.3_Missense_Mutation_p.E184K|STAU1_uc002xug.3_Missense_Mutation_p.E259K NM_017453 NP_059348 O95793 STAU1_HUMAN Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA. 259 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) TTTACTCGTTCAACTGCAGGC 0.433000 211 155 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139164774 139164774 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:139164774C>T uc003yuy.3 - 12 2115 c.1944G>A c.(1942-1944)ctG>ctA p.L648L FAM135B_uc003yux.3_Silent_p.L549L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.L210L|FAM135B_uc003yvb.3_Silent_p.L210L NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 648 p.L648M(2) 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) AGGGCTCCCTCAGGGTAGAAC 0.488000 HNSCC(54;0.14) 34 58 0 0 0.003610 0 0 MYO6 4646 broad.mit.edu 37 6 76558150 76558150 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:76558150T>C uc003pih.1 + 10 1259 c.980T>C c.(979-981)aTt>aCt p.I327T MYO6_uc003pig.1_Missense_Mutation_p.I327T|MYO6_uc003pii.1_Missense_Mutation_p.I327T NM_004999 NP_004990 Q9UM54 MYO6_HUMAN Homo sapiens myosin VI (MYO6), mRNA. 327 Myosin head-like. DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) ATGAAAAAAATTGGTTTGGAT 0.418000 1 61 0 0 0.003610 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21011452 21011452 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:21011452C>T uc010sil.2 + 2 371 c.306C>T c.(304-306)ctC>ctT p.L102L SLCO1B3_uc001rek.3_Silent_p.L102L|SLCO1B3_uc001rel.3_Silent_p.L102L|SLCO1B3_uc010sim.2_Silent_p.L102L Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 102 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTGGTTGTCTCCTTATGGGAA 0.323000 52 51 0 0 0.003610 0 0 WDR35 57539 broad.mit.edu 37 2 20130310 20130310 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:20130310T>C uc002rdi.3 - 25 3109 c.3001A>G c.(3001-3003)Act>Gct p.T1001A WDR35_uc002rdj.3_Missense_Mutation_p.T990A|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Missense_Mutation_p.T474A NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA. 1001 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGGCAGAAGTGGCCTACGAG 0.453000 46 29 0 0 0.002096 0 0 OR2B6 26212 broad.mit.edu 37 6 27925668 27925668 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:27925668C>T uc011dkx.2 + 0 650 c.650C>T c.(649-651)tCa>tTa p.S217L NM_012367 NP_036499 P58173 OR2B6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCTTATATCATATGCTTTT 0.423000 154 62 0 0 0.003610 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565663 11565663 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:11565663G>T uc002mry.1 - 6 1162 c.782C>A c.(781-783)cCg>cAg p.P261Q ELAVL3_uc002mrx.1_Missense_Mutation_p.P254Q NM_001420 NP_001411 Q14576 ELAV3_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA. 261 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 GATGGCGATCGGCGAGAACCT 0.682000 88 119 1.88967e-73 2.47255e-73 0.003610 1 0 DYSF 8291 broad.mit.edu 37 2 71892301 71892301 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:71892301G>A uc010fen.3 + 46 5325 c.5184G>A c.(5182-5184)ccG>ccA p.P1728P DYSF_uc010fei.3_Silent_p.P1706P|DYSF_uc010feh.3_Silent_p.P1696P|DYSF_uc002sig.4_Silent_p.P1675P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1720P|DYSF_uc010fee.3_Silent_p.P1710P|DYSF_uc010fef.3_Silent_p.P1727P|DYSF_uc002sie.3_Silent_p.P1689P|DYSF_uc010feo.3_Silent_p.P1721P|DYSF_uc010fej.3_Silent_p.P1697P|DYSF_uc010fel.3_Silent_p.P1676P|DYSF_uc010fem.3_Silent_p.P1711P|DYSF_uc002sif.3_Silent_p.P1690P|DYSF_uc010fek.3_Silent_p.P1707P|DYSF_uc010yqy.2_Silent_p.P570P|DYSF_uc010yqz.2_Silent_p.P450P NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1689 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCTCTGGACCGAACCAGTGGC 0.577000 90 68 0 0 0.003610 0 0 ZNF432 9668 broad.mit.edu 37 19 52537165 52537165 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:52537165T>C uc002pyk.3 - 4 2085 c.1767A>G c.(1765-1767)caA>caG p.Q589Q NM_014650 NP_055465 O94892 ZN432_HUMAN Homo sapiens zinc finger protein 432 (ZNF432), mRNA. 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) CAGTATGAACTTGCTTATGTA 0.378000 33 55 0 0 0.003610 0 0 LRP1B 53353 broad.mit.edu 37 2 141359104 141359104 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:141359104G>A uc002tvj.1 - 41 7876 c.6904C>T c.(6904-6906)Cgg>Tgg p.R2302W NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2302 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) GCTCCAGGCCGAGTCTGGTCC 0.498000 TSP Lung(27;0.18) 46 43 0 0 0.008740 0 0 OR51G1 79324 broad.mit.edu 37 11 4944710 4944710 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:4944710G>A uc010qyr.2 - 0 860 c.860C>T c.(859-861)cCc>cTc p.P287L NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P287T(1) NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTCATAAGGGGTGGTACCAG 0.453000 66 32 0 0 0.006999 0 0 CSMD3 114788 broad.mit.edu 37 8 113308069 113308069 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:113308069G>A uc003ynu.3 - 53 8766 c.8607C>T c.(8605-8607)tcC>tcT p.S2869S CSMD3_uc003yns.3_Silent_p.S2071S|CSMD3_uc003ynt.3_Silent_p.S2829S|CSMD3_uc011lhx.2_Silent_p.S2700S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2869 Sushi 18. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACGCACACAGGATGGGAGCT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 9 0 0 0.000978 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133948554 133948554 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:133948554T>C uc001lkx.4 + 3 859 c.859T>C c.(859-861)Ttg>Ctg p.L287L NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGAACAGCAGTTGGATGAAAA 0.488000 1 24 0 0 0.004656 0 0 ADAM18 8749 broad.mit.edu 37 8 39495127 39495127 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:39495127C>T uc003xni.3 + 8 787 c.732C>T c.(730-732)tcC>tcT p.S244S ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.S220S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 244 Peptidase M12B. 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) ACCAGATTTCCACCAGTGGGG 0.368000 29 10 0 0 0.006214 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383112 41383112 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:41383112C>T uc002opm.3 - 6 1686 c.1144G>A c.(1144-1146)Gat>Aat p.D382N CYP2A7_uc002opo.3_Missense_Mutation_p.D382N|CYP2A7_uc002opn.3_Missense_Mutation_p.D331N NM_000764 NP_000755 P20853 CP2A7_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA. 382 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R381Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGGAAAAAATCCCGAAACTTG 0.532000 36 69 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 106878046 106878046 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:106878046G>A uc021ser.1 - 408 c.12961C>T Parts of antibodies, mostly variable regions. AAGAACCACAGGTGCTTCATT 0.507000 23 17 0 0 0.007413 0 0 ZNF707 286075 broad.mit.edu 37 8 144776491 144776491 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:144776491C>T uc003yze.4 + 6 1222 c.907C>T c.(907-909)Ctc>Ttc p.L303F ZNF707_uc010mfh.3_Missense_Mutation_p.L303F|ZNF707_uc010mfi.3_Missense_Mutation_p.L303F|ZNF707_uc003yzf.4_Missense_Mutation_p.L303F|ZNF707_uc003yzh.4_Missense_Mutation_p.L230F|ZNF707_uc011lkq.1_Non-coding_Transcript|BREA2_uc010mfj.2_5'Flank NM_173831 NP_776192 Q96C28 ZN707_HUMAN Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA. 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAAGGAGAACCTCAGCCACCA 0.642000 12 8 0 0 0.004482 0 0 TRHDE 29953 broad.mit.edu 37 12 73015526 73015526 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:73015526G>A uc001sxa.3 + 14 2565 c.2535G>A c.(2533-2535)agG>agA p.R845R NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 845 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CCAGCAACAGGAACAGGTAAA 0.393000 22 10 0 0 0.000978 0 0 DUSP13 51207 broad.mit.edu 37 10 76855365 76855365 + Missense_Mutation SNP C T T rs146266949 byFrequency TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:76855365C>T uc001jwr.3 - 2 425 c.362G>A c.(361-363)cGa>cAa p.R121Q DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.R214Q|DUSP13_uc001jww.3_Missense_Mutation_p.R171Q|DUSP13_uc009xrs.3_Missense_Mutation_p.R214Q|DUSP13_uc001jwt.3_Missense_Mutation_p.R214Q|DUSP13_uc001jwv.3_Missense_Mutation_p.R121Q NM_016364 NP_057448 Q6B8I1 MDSP_HUMAN Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA. 112 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCGGATGTATCGAGCAACAGG 0.542000 5 43 0 0 0.002852 0 0 BIN2 51411 broad.mit.edu 37 12 51685417 51685417 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:51685417G>A uc001ryg.3 - 9 1525 c.1473C>T c.(1471-1473)aaC>aaT p.N491N BIN2_uc009zlz.3_Silent_p.N459N|BIN2_uc001ryh.3_Silent_p.N367N|BIN2_uc010sng.2_Silent_p.N465N NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 491 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GTTCTTCAGGGTTCTGATTGT 0.408000 33 309 0 0 0.003610 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123484350 123484350 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:123484350G>A uc001pyw.2 + 15 2132 c.1803G>A c.(1801-1803)agG>agA p.R601R GRAMD1B_uc001pyx.2_Silent_p.R594R|GRAMD1B_uc010rzw.2_Silent_p.R554R|GRAMD1B_uc010rzx.1_Silent_p.R554R|GRAMD1B_uc001pyy.2_Silent_p.R285R NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA. 594 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TGGGCCACAGGATCAAACATG 0.617000 0 11 0 0 0.002450 0 0 SYT10 341359 broad.mit.edu 37 12 33559894 33559894 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:33559894G>A uc001rll.1 - 2 1204 c.907C>T c.(907-909)Cct>Tct p.P303S SYT10_uc009zju.1_Missense_Mutation_p.P113S NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 303 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.P303H(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TATGCTACAGGAAATTGAAAA 0.348000 48 22 0 0 0.001882 0 0 RBL1 5933 broad.mit.edu 37 20 35695483 35695483 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:35695483G>A uc002xgi.3 - 4 677 c.598C>T c.(598-600)Cat>Tat p.H200Y RBL1_uc002xgj.1_Missense_Mutation_p.H200Y|RBL1_uc010gfv.1_Non-coding_Transcript NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 200 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAAGTAAATGATAAGAGTTT 0.328000 52 48 0 0 0.003610 0 0 NAV2 89797 broad.mit.edu 37 11 19967990 19967990 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:19967990C>T uc010rdm.2 + 9 2620 c.2259C>T c.(2257-2259)atC>atT p.I753I NAV2_uc001mpp.3_Silent_p.I666I|NAV2_uc001mpr.4_Silent_p.I730I|NAV2_uc021qew.1_Silent_p.I730I NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 753 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TGAAGAACATCGCTGATCTGC 0.463000 10 11 0 0 0.008291 0 0 LAMA3 3909 broad.mit.edu 37 18 21437841 21437841 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:21437841C>T uc002kuq.3 + 32 4256 c.4170C>T c.(4168-4170)gaC>gaT p.D1390D LAMA3_uc002kur.3_Silent_p.D1390D NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1390 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCAGTGTGACCGATGTGCTT 0.493000 45 79 0 0 0.003610 0 0 GLI2 2736 broad.mit.edu 37 2 121745795 121745795 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:121745795G>A uc010flp.3 + 12 2335 c.2305G>A c.(2305-2307)Gaa>Aaa p.E769K GLI2_uc002tmq.1_Missense_Mutation_p.E441K|GLI2_uc002tmr.1_Missense_Mutation_p.E424K|GLI2_uc002tmt.4_Missense_Mutation_p.E441K|GLI2_uc002tmu.4_Missense_Mutation_p.E424K NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 769 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) CTCCATCCTGGAAAACTTCAG 0.687000 17 25 0 0 0.002780 0 0 ZNF212 7988 broad.mit.edu 37 7 148950971 148950971 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:148950971G>A uc003wfp.3 + 4 1081 c.953G>A c.(952-954)tGt>tAt p.C318Y NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 318 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) CCCTACGAATGTTCTGAGTGT 0.577000 85 22 0 0 0.003330 0 0 EXPH5 23086 broad.mit.edu 37 11 108381479 108381479 + Silent SNP C T T rs144642316 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:108381479C>T uc001pkk.3 - 5 4866 c.4755G>A c.(4753-4755)ggG>ggA p.G1585G EXPH5_uc010rvz.2_Silent_p.G1429G|EXPH5_uc010rvy.2_Silent_p.G1397G NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1585 intracellular protein transport Rab GTPase binding p.G1585G(2) 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) ATCTATTTTCCCCCTTTACTA 0.423000 12 22 0 0 0.004656 0 0 ACSM2B 348158 broad.mit.edu 37 16 20556489 20556489 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:20556489G>A uc002dhj.4 - 10 1481 c.1271C>T c.(1270-1272)tCt>tTt p.S424F ACSM2B_uc002dhk.4_Missense_Mutation_p.S424F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S424F NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 424 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CACATAGCCAGAGAAGATGCC 0.512000 45 40 0 0 0.003214 0 0 OR2J3 442186 broad.mit.edu 37 6 29080276 29080276 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:29080276G>A uc011dll.2 + 0 609 c.609G>A c.(607-609)atG>atA p.M203I NM_001005216 NP_001005216 O76001 OR2J3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA. 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TGACCCTCATGATCACAAGCT 0.473000 26 77 0 0 0.003610 0 0 FGFR4 2264 broad.mit.edu 37 5 176522718 176522718 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:176522718C>T uc003mfl.3 + 12 1982 c.1815C>T c.(1813-1815)tcC>tcT p.S605S FGFR4_uc003mfm.3_Silent_p.S605S|FGFR4_uc011dfu.2_Silent_p.S537S|FGFR4_uc003mfo.3_Silent_p.S565S NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 605 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) ATCTGGAGTCCCGGAAGGTAC 0.637000 TSP Lung(9;0.080) 18 8 0 0 0.004482 0 0 LIG1 3978 broad.mit.edu 37 19 48657186 48657186 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:48657186G>A uc002pia.1 - 5 529 c.409C>T c.(409-411)Ctg>Ttg p.L137L LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Silent_p.L107L|LIG1_uc010xzh.1_Intron NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 137 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) tgctcttccAGGACTTCCTGA 0.582000 Nucleotide excision repair (NER) 8 9 0 0 0.004482 0 0 CC2D1A 54862 broad.mit.edu 37 19 14029983 14029983 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:14029983C>T uc002mxo.2 + 10 1489 c.1190C>T c.(1189-1191)gCc>gTc p.A397V CC2D1A_uc002mxn.2_Missense_Mutation_p.A296V|CC2D1A_uc002mxp.2_Missense_Mutation_p.A397V|CC2D1A_uc010dzh.2_Missense_Mutation_p.P11S|CC2D1A_uc002mxq.1_Missense_Mutation_p.A42V NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA. 397 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GCTGGCCGAGCCGTGGATGTC 0.711000 14 7 0 0 0.004482 0 0 OR2A12 346525 broad.mit.edu 37 7 143792246 143792246 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:143792246T>A uc011kty.2 + 0 46 c.46T>A c.(46-48)Ttc>Atc p.F16I NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) CCTGTTGGGATTCCAGGTGGA 0.438000 83 16 0 0 0.004007 0 0 DDX60L 91351 broad.mit.edu 37 4 169374347 169374347 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:169374347G>A uc021xuh.1 - 6 1034 c.924C>T c.(922-924)ccC>ccT p.P308P DDX60L_uc003irq.4_Silent_p.P308P|DDX60L_uc003irr.1_Silent_p.P308P|DDX60L_uc003irs.1_Silent_p.P35P NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 308 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TCTGAGAAAGGGGTAAGTGGA 0.413000 24 21 0 0 0.001882 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:16279248C>T uc010gqp.2 - 3 1027 c.975G>A c.(973-975)gtG>gtA p.V325V POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 602 45 0 0 0.003610 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449164 104449164 + Missense_Mutation SNP C T T rs145326290 by1000genomes TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:104449164C>T uc004bbp.2 - 1 1619 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K GRIN3A_uc004bbq.1_Missense_Mutation_p.E340K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 340 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGTAATTTCGAAAATCCGC 0.517000 3 31 0 0 0.002096 0 0 LRP1B 53353 broad.mit.edu 37 2 141130601 141130601 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:141130601C>T uc002tvj.1 - 68 11716 c.10744G>A c.(10744-10746)Gaa>Aaa p.E3582K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3582 LDL-receptor class A 27. 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) TTCTCATCTTCCCCATATTTG 0.363000 TSP Lung(27;0.18) 83 62 0 0 0.003610 0 0 SLC9A8 23315 broad.mit.edu 37 20 48466142 48466142 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:48466142C>T uc002xuv.1 + 5 669 c.459C>T c.(457-459)tcC>tcT p.S153S SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Silent_p.S153S|SLC9A8_uc010zyk.1_Silent_p.S153S|SLC9A8_uc010zyl.1_Silent_p.S125S|SLC9A8_uc010gib.1_Intron NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA. 153 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) ATATTGGTTCCATCACCCTGT 0.423000 40 22 0 0 0.002299 0 0 PPM1N 147699 broad.mit.edu 37 19 46005303 46005303 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:46005303A>G uc002pce.3 + 4 1253 c.1253A>G c.(1252-1254)aAc>aGc p.N418S PPM1N_uc002pcf.3_Missense_Mutation_p.N100S NM_001080401 NP_001073870 Q8N819 PPM1N_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA. 418 magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 GGGAAGTCCAACCCCACGCAT 0.507000 17 24 0 0 0.004656 0 0 RANBP17 64901 broad.mit.edu 37 5 170720948 170720948 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:170720948C>T uc003mba.3 + 25 3147 c.3005C>T c.(3004-3006)tCc>tTc p.S1002F RANBP17_uc003mbb.3_Missense_Mutation_p.S327F|RANBP17_uc010jjs.3_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 1002 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGTCAGTATCCAGGCCTCTC 0.488000 T TRD@ ALL 177 143 0 0 0.003610 0 0 FAT4 79633 broad.mit.edu 37 4 126369688 126369688 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:126369688C>T uc003ifj.4 + 8 7517 c.7517C>T c.(7516-7518)tCg>tTg p.S2506L FAT4_uc011cgp.2_Missense_Mutation_p.S804L|FAT4_uc003ifi.1_5'UTR NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2506 Cadherin 24. 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 TATTCTCTTTCGGGTAGAAAT 0.423000 33 22 0 0 0.001882 0 0 ERBB4 2066 broad.mit.edu 37 2 212426687 212426687 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:212426687C>T uc002veg.1 - 19 2526 c.2428G>A c.(2428-2430)Gag>Aag p.E810K ERBB4_uc002veh.1_Missense_Mutation_p.E810K|ERBB4_uc010zji.1_Missense_Mutation_p.E800K|ERBB4_uc010zjj.1_Missense_Mutation_p.E800K|ERBB4_uc010fut.1_Missense_Mutation_p.E810K NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 810 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCTTGTGCTCGTGGACATAC 0.473000 TSP Lung(8;0.080) 81 60 0 0 0.003610 0 0 PSG11 5680 broad.mit.edu 37 19 43523096 43523096 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:43523096G>A uc002ovm.1 - 2 642 c.535C>T c.(535-537)Ctg>Ttg p.L179L PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.L57L|PSG11_uc002ovo.1_Silent_p.L57L NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 179 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) ATCCACCACAGGTAGCTTGCG 0.512000 123 197 0 0 0.003610 0 0 PPP1R2 5504 broad.mit.edu 37 3 195256633 195256633 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:195256633A>G uc003fup.3 - 1 568 c.192T>C c.(190-192)ggT>ggC p.G64G PPP1R2_uc003fuq.4_Silent_p.G64G NM_006241 NP_006232 P41236 IPP2_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 (PPP1R2), mRNA. 64 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TTTTCATTAAACCATAGTCTT 0.363000 38 30 0 0 0.002445 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319582 43319582 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:43319582T>C uc010dnk.3 + 8 1291 c.1069T>C c.(1069-1071)Ttc>Ctc p.F357L SLC14A1_uc002lbi.4_Missense_Mutation_p.F169L|SLC14A1_uc010xcn.2_Missense_Mutation_p.F301L|SLC14A1_uc002lbf.4_Missense_Mutation_p.F301L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.F196L|SLC14A1_uc002lbh.4_Missense_Mutation_p.F193L|SLC14A1_uc002lbj.4_Missense_Mutation_p.F357L|SLC14A1_uc002lbk.4_Missense_Mutation_p.F301L|SLC14A1_uc021ujg.1_Silent_p.C251C 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. 301 integral to plasma membrane urea transmembrane transporter activity p.N356S(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GGGAGGAATGTTCATGGCGCT 0.547000 39 48 0 0 0.003610 0 0 MAB21L2 10586 broad.mit.edu 37 4 151505189 151505189 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:151505189G>A uc003ilw.3 + 0 2113 c.1008G>A c.(1006-1008)gaG>gaA p.E336E LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA. 336 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CGGCCCTGGAGAGCGCTGCCA 0.587000 24 8 0 0 0.004482 0 0 GGCT 79017 broad.mit.edu 37 7 30538442 30538442 + Missense_Mutation SNP G A A rs142543540 byFrequency TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:30538442G>A uc003tba.3 - 2 532 c.400C>T c.(400-402)Ccc>Tcc p.P134S GGCT_uc022abe.1_Intron|GGCT_uc003tbb.3_Intron|GGCT_uc003tbc.3_Non-coding_Transcript|GGCT_uc022abf.1_Intron|GGCT_uc003taz.3_Missense_Mutation_p.P73S NM_024051 NP_076956 O75223 GGCT_HUMAN Homo sapiens gamma-glutamylcyclotransferase (GGCT), transcript variant 1, mRNA. 134 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 GGGGATGGGGGAGCACTTTCG 0.318000 129 32 0 0 0.002836 0 0 PDGFRA 5156 broad.mit.edu 37 4 54306789 54306789 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:54306789C>T uc011bzt.1 + 12 1293 c.1107C>T c.(1105-1107)ttC>ttT p.F369F PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Intron|PDGFRA_uc011bzu.2_Intron|PDGFRA_uc003gzz.3_Intron|PDGFRA_uc003hab.3_Intron|PDGFRA_uc010ign.3_Intron|FIP1L1_uc003hae.3_Intron NM_030917 NP_112179 P16234 PGFRA_HUMAN Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA. 0 Ig-like C2-type 4. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AAACTTTTTTCATGTTTTCTC 0.323000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 8 3 0 0 0.004672 0 0 GC 2638 broad.mit.edu 37 4 72620797 72620797 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:72620797A>G uc010iif.3 - 9 1214 c.1119T>C c.(1117-1119)acT>acC p.T373T GC_uc003hge.3_Silent_p.T354T|GC_uc021xpb.1_Silent_p.T354T NM_001204307 NP_001191236 P02774 VTDB_HUMAN Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA. 354 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity p.L372F(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) CCGGAAGATGAGTCCTTCTGC 0.333000 17 30 0 0 0.002836 0 0 POTEG 404785 broad.mit.edu 37 14 19553789 19553789 + Missense_Mutation SNP G A A rs145666754 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:19553789G>A uc001vuz.1 + 0 425 c.373G>A c.(373-375)Gac>Aac p.D125N POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 125 p.D125E(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGACTACGACGACAGCGCTTT 0.592000 625 65 0 0 0.003610 0 0 ZNF99 7652 broad.mit.edu 37 19 22942238 22942238 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:22942238G>A uc021urt.1 - 3 628 c.473C>T c.(472-474)tCa>tTa p.S158L 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) ATTTGAATTTGAATATTTATG 0.274000 1 6 0 0 0.001168 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987619 154987619 + Missense_Mutation SNP G C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:154987619G>C uc001fgj.4 + 4 870 c.585G>C c.(583-585)caG>caC p.Q195H ZBTB7B_uc009wpa.3_Missense_Mutation_p.Q161H|ZBTB7B_uc001fgk.4_Missense_Mutation_p.Q161H|ZBTB7B_uc010peq.2_Missense_Mutation_p.Q195H|ZBTB7B_uc001fgl.4_Missense_Mutation_p.Q161H NM_015872 NP_056956 O15156 ZBT7B_HUMAN Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA. 161 Pro-rich. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GAGCCCGCCAGTATCTGGAGG 0.632000 72 21 0 0 0.004656 0 0 GABRG1 2565 broad.mit.edu 37 4 46060350 46060350 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:46060350C>T uc003gxb.3 - 6 952 c.800G>A c.(799-801)aGc>aAc p.S267N NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 267 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.S267S(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CATTCTTCTGCTCAGGTCAAA 0.308000 36 12 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179440352 179440352 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179440352A>C uc021vsy.1 - 274 63028 c.62803T>G c.(62803-62805)Tgt>Ggt p.C20935G MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C14630G|TTN_uc021vta.1_Missense_Mutation_p.C14563G|TTN_uc021vtb.1_Missense_Mutation_p.C14438G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21862 Ig-like 112. 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) AAATATTCACACCCTTCAGAC 0.438000 158 13 0 0 0.004878 0 0 ANKAR 150709 broad.mit.edu 37 2 190557145 190557145 + Splice_Site SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:190557145G>A uc002uqw.2 + 4 1291 c.1203_splice c.e4+1 p.Q401_splice ANKAR_uc002uqu.3_Splice_Site|ANKAR_uc002uqv.1_Missense_Mutation_p.V402I NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 401 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AGATTTTCAGGTTTAAATGAT 0.358000 29 29 0 0 0.003755 0 0 CHRM3 1131 broad.mit.edu 37 1 240070807 240070807 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:240070807C>T uc021plc.1 + 0 56 c.56C>T c.(55-57)tCc>tTc p.S19F CHRM3_uc001hyp.3_Missense_Mutation_p.S19F NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 19 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ATCAGCTCCTCCTGGATACAC 0.522000 73 57 0 0 0.003610 0 0 C10orf120 399814 broad.mit.edu 37 10 124457576 124457576 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr10:124457576C>T uc001lgn.3 - 2 713 c.681G>A c.(679-681)aaG>aaA p.K227K NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 227 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CCTCCTCTTTCTTATCTTGGT 0.388000 2 25 0 0 0.002780 0 0 SEPP1 6414 broad.mit.edu 37 5 42804836 42804836 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:42804836G>A uc011cps.2 - 4 644 c.546C>T c.(544-546)tcC>tcT p.S182S SEPP1_uc011cpt.2_Silent_p.S152S|SEPP1_uc011cpu.2_Silent_p.S152S|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 152 response to oxidative stress extracellular region selenium binding p.K181R(10) kidney(10)|large_intestine(1)|lung(4) 15 AAGTTAGGAAGGAAAAAGGCA 0.343000 42 11 0 0 0.008291 0 0 ELMO1 9844 broad.mit.edu 37 7 37264565 37264565 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:37264565G>A uc022abv.1 - 8 1330 c.620C>T c.(619-621)tCg>tTg p.S207L ELMO1_uc011kbc.2_Missense_Mutation_p.S111L|ELMO1_uc003tfk.2_Missense_Mutation_p.S207L|ELMO1_uc010kxg.2_Missense_Mutation_p.S207L NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 207 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.S207S(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 GAGCACCATCGACTCCAAAAT 0.502000 46 35 0 0 0.002836 0 0 TFAP2C 7022 broad.mit.edu 37 20 55212796 55212796 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:55212796A>G uc002xya.3 + 6 1323 c.1080A>G c.(1078-1080)aaA>aaG p.K360K TFAP2C_uc010zzi.2_Silent_p.K191K NM_003222 NP_003213 Q92754 AP2C_HUMAN Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA. 360 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) AACTGTGTAAAGAATTCACAG 0.517000 55 40 0 0 0.005524 0 0 abParts 0 broad.mit.edu 37 14 106805234 106805234 + Splice_Site SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:106805234T>C uc001ysw.1 - 1 c.1_splice c.e1-1 abParts_uc021ser.1_Non-coding_Transcript Human Ig heavy chain C-mu germline transcript, partial cds. CACGGCCGTGTCCGCGGCAGT 0.582000 242 118 0 0 0.003610 0 0 ATP13A5 344905 broad.mit.edu 37 3 193051605 193051605 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:193051605G>A uc011bsq.2 - 10 1206 c.1206C>T c.(1204-1206)atC>atT p.I402I NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 402 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCAGGAACACGATGAACTTGA 0.453000 34 42 0 0 0.006999 0 0 C19orf63 284361 broad.mit.edu 37 19 50984008 50984008 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:50984008C>T uc002psl.3 + 4 639 c.573C>T c.(571-573)acC>acT p.T191T C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Silent_p.T191T NM_206538 NP_996261 Q5UCC4 INM02_HUMAN Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA. 191 extracellular region|integral to membrane breast(1)|lung(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252) AGCCGCCCACCACAGCCCCAG 0.721000 5 11 0 0 0.008291 0 0 FAM116B 414918 broad.mit.edu 37 22 50750839 50750839 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:50750839T>C uc011arv.1 - 18 1640 c.1568A>G c.(1567-1569)gAg>gGg p.E523G NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA. 523 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATCCAGGTCTCGATGTTCTG 0.622000 15 9 0 0 0.000978 0 0 SYN2 6854 broad.mit.edu 37 3 12211285 12211285 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:12211285G>A uc003bwm.3 + 12 1339 c.1175G>A c.(1174-1176)gGg>gAg p.G392E SYN2_uc003bwl.1_Missense_Mutation_p.G392E|SYN2_uc003bwn.3_Missense_Mutation_p.G70E NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 396 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 CCACTGATTGGGGAACATCAG 0.527000 211 165 0 0 0.003610 0 0 FAM47A 158724 broad.mit.edu 37 X 34149456 34149456 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:34149456G>A uc004ddg.3 - 0 992 c.940C>T c.(940-942)Cgc>Tgc p.R314C NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 314 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGCTCCTGGCGGAGATGGGAC 0.607000 3 22 0 0 0.001882 0 0 GRIK2 2898 broad.mit.edu 37 6 102337537 102337537 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:102337537C>T uc003pqp.4 + 10 1840 c.1547C>T c.(1546-1548)cCa>cTa p.P516L GRIK2_uc003pqn.3_Missense_Mutation_p.P516L|GRIK2_uc010kcw.3_Missense_Mutation_p.P516L|GRIK2_uc003pqo.4_Missense_Mutation_p.P516L|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 516 Glutamate binding (By similarity). 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) GCAGTTGCTCCACTGGCTATT 0.363000 4 58 0 0 0.003610 0 0 OR6K6 128371 broad.mit.edu 37 1 158724803 158724803 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:158724803C>T uc001fsw.1 + 0 198 c.198C>T c.(196-198)atC>atT p.I66I NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ACGGATTTATCCTAACTGGAA 0.458000 6 151 0 0 0.003610 0 0 PCDH19 57526 broad.mit.edu 37 X 99551612 99551612 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:99551612C>T uc010nmz.3 - 5 4786 c.3110G>A c.(3109-3111)aGg>aAg p.R1037K PCDH19_uc004efw.4_Missense_Mutation_p.R989K|PCDH19_uc004efx.4_Missense_Mutation_p.R990K NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 1037 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 ATCGACAGTCCTCTTGCCTTT 0.597000 0 36 0 0 0.004878 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37469593 37469593 + Missense_Mutation SNP C T T rs137853120 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr22:37469593C>T uc003aqt.1 - 12 1596 c.1534G>A c.(1534-1536)Gac>Aac p.D512N TMPRSS6_uc003aqs.1_Missense_Mutation_p.D521N NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 521 LDL-receptor class A 2. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity p.G512W(1) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TGCTCTTCGTCGCTGCCGTTG 0.552000 78 55 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9091259 9091259 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:9091259G>A uc002mkp.3 - 0 760 c.556C>T c.(556-558)Cct>Tct p.P186S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 186 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P186S(3)|p.I185I(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATTTTTACAGGAATATATCTT 0.473000 51 21 0 0 0.002299 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570759 20570759 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:20570759C>T uc002dhj.4 - 3 398 c.188G>A c.(187-189)cGa>cAa p.R63Q ACSM2B_uc002dhk.4_Missense_Mutation_p.R63Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R63Q NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 63 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GCTTGGGAGTCGCTTGCCAGC 0.512000 23 18 0 0 0.003330 0 0 KATNB1 10300 broad.mit.edu 37 16 57775704 57775704 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:57775704C>T uc002eml.1 + 2 520 c.146C>T c.(145-147)tCc>tTc p.S49F NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA. 49 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) AACCTGTGGTCCATCAACAAG 0.662000 22 18 0 0 0.004990 0 0 OR51G2 81282 broad.mit.edu 37 11 4936151 4936151 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:4936151G>A uc001lzr.1 - 0 743 c.743C>T c.(742-744)tCc>tTc p.S248F NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGATGTGGGAAACACAGGT 0.552000 34 39 0 0 0.007835 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104212809 104212809 + Nonsense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:104212809G>A uc001yof.1 - 8 1334 c.1051C>T c.(1051-1053)Cag>Tag p.Q351* PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Nonsense_Mutation_p.Q218* NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA. 351 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTGGGAACCTGGATATAAGGC 0.542000 45 32 0 0 0.008361 0 0 SLC13A3 64849 broad.mit.edu 37 20 45224911 45224911 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:45224911G>A uc002xsf.2 - 4 719 c.679C>T c.(679-681)Cgt>Tgt p.R227C SLC13A3_uc010ghn.2_Missense_Mutation_p.R196C|SLC13A3_uc010zxx.2_Missense_Mutation_p.R129C|SLC13A3_uc010zxw.2_Silent_p.I204I|SLC13A3_uc002xsg.2_Missense_Mutation_p.R180C|SLC13A3_uc010gho.2_Missense_Mutation_p.R180C NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 227 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ATGTTCCGACGATATTCATCC 0.542000 108 86 0 0 0.003610 0 0 PDLIM4 8572 broad.mit.edu 37 5 131607030 131607030 + Missense_Mutation SNP G C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:131607030G>C uc003kwo.3 + 4 618 c.541G>C c.(541-543)Gac>Cac p.D181H BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Missense_Mutation_p.D181H|PDLIM4_uc003kwp.3_Missense_Mutation_p.D181H NM_003687 NP_003678 P50479 PDLI4_HUMAN Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA. 181 RGLPRSRDC -> EASRGAGS (in Ref. 1; CAA63767). protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGGAGCCGGGACTGCAGAGT 0.657000 3 29 0 0 0.007291 0 0 COL4A3 1285 broad.mit.edu 37 2 228118045 228118045 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:228118045G>A uc002vom.2 + 11 841 c.679G>A c.(679-681)Gga>Aga p.G227R BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 227 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGGACATAAAGGAGAGCGGGT 0.348000 3 59 0 0 0.003610 0 0 KCNB1 3745 broad.mit.edu 37 20 47990040 47990040 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:47990040G>A uc002xur.1 - 1 2223 c.2057C>T c.(2056-2058)cCc>cTc p.P686L KCNB1_uc002xus.1_Missense_Mutation_p.P686L NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 686 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.P686A(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCCTAGAACGGGGAGGAGTGG 0.557000 49 34 0 0 0.002445 0 0 CNGA4 1262 broad.mit.edu 37 11 6261746 6261746 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:6261746A>T uc001mco.3 + 3 837 c.722A>T c.(721-723)gAa>gTa p.E241V CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.E201V NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 241 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGCCAGGGAAGAAGAGTAC 0.557000 38 51 0 0 0.003610 0 0 BPIFA2 140683 broad.mit.edu 37 20 31763249 31763249 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:31763249C>T uc002wyo.1 + 4 518 c.447C>T c.(445-447)tcC>tcT p.S149S NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA. 149 extracellular region lipid binding TGAAAGCCTCCTTGGACCTCC 0.532000 102 105 0 0 0.003610 0 0 FAT4 79633 broad.mit.edu 37 4 126373063 126373063 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:126373063G>A uc003ifj.4 + 8 10892 c.10892G>A c.(10891-10893)gGg>gAg p.G3631E FAT4_uc011cgp.2_Missense_Mutation_p.G1929E|FAT4_uc003ifi.1_Missense_Mutation_p.G1109E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3631 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 TTTCCCGGTGGGATTTTAGGC 0.453000 36 20 0 0 0.007413 0 0 ZNF398 57541 broad.mit.edu 37 7 148876644 148876644 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:148876644C>T uc011kum.2 + 6 1836 c.1695C>T c.(1693-1695)atC>atT p.I565I ZNF398_uc011kul.2_Silent_p.I389I|ZNF398_uc003wfl.3_Silent_p.I560I NM_020781 NP_065832 Q8TD17 ZN398_HUMAN Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA. 560 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) ACCAGCGCATCCACACCGGGG 0.607000 141 51 0 0 0.003610 0 0 CNTN4 152330 broad.mit.edu 37 3 2777941 2777941 + Missense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:2777941G>T uc003bpc.3 + 4 437 c.98G>T c.(97-99)aGt>aTt p.S33I CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S33I|CNTN4_uc003bpd.1_Missense_Mutation_p.S33I NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 33 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAAGAACCAAGTCCTGTAATG 0.363000 131 89 2.179e-33 2.83701e-33 0.003610 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342339 60342339 + RNA SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:60342339A>C uc010woz.2 - 13 c.1790T>G Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TGTTAAGCCTAGGGAAATTAT 0.478000 119 24 0 0 0.001786 0 0 STAG3 10734 broad.mit.edu 37 7 99799638 99799638 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:99799638G>A uc003utx.1 + 22 2523 c.2368G>A c.(2368-2370)Gat>Aat p.D790N STAG3_uc011kjk.1_Missense_Mutation_p.D732N|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Missense_Mutation_p.D14N NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 790 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) TTGCCTCTCAGATGTGGATAC 0.522000 4 106 0 0 0.003610 0 0 ZNF318 24149 broad.mit.edu 37 6 43307297 43307297 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:43307297G>A uc003oux.3 - 9 4517 c.4439C>T c.(4438-4440)cCa>cTa p.P1480L ZNF318_uc003ouw.3_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 1480 Pro-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGATACAACTGGGTTTGATTT 0.552000 26 38 0 0 0.002222 0 0 TINAG 27283 broad.mit.edu 37 6 54212256 54212256 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:54212256C>T uc003pcj.2 + 5 986 c.840C>T c.(838-840)aaC>aaT p.N280N TINAG_uc010jzt.2_Intron NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 280 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) GTGCCAAGAACCGTCATGGAT 0.453000 36 61 0 0 0.003610 0 0 MTUS1 57509 broad.mit.edu 37 8 17573382 17573382 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:17573382C>T uc003wxv.3 - 4 2952 c.2478G>A c.(2476-2478)gaG>gaA p.E826E MTUS1_uc003wxt.3_Silent_p.E73E|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.E772E NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 826 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GAGGTTTCTCCTCATATTTGA 0.378000 84 43 0 0 0.002222 0 0 DLL3 10683 broad.mit.edu 37 19 39994810 39994810 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:39994810C>T uc002olx.2 + 4 810 c.752C>T c.(751-753)cCt>cTt p.P251L DLL3_uc010egq.3_Missense_Mutation_p.P251L|DLL3_uc002olw.2_Missense_Mutation_p.P251L NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA. 251 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGCACGGTCCCTGTCTCCACC 0.677000 41 20 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179411907 179411907 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179411907C>T uc021vsy.1 - 288 86866 c.86641G>A c.(86641-86643)Gaa>Aaa p.E28881K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22576K|TTN_uc021vta.1_Missense_Mutation_p.E22509K|TTN_uc021vtb.1_Missense_Mutation_p.E22384K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29808 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) GTATTACGTTCTTTCTTCTCA 0.423000 191 181 0 0 0.003610 0 0 P2RY1 5028 broad.mit.edu 37 3 152553917 152553917 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:152553917G>A uc003ezq.3 + 0 1182 c.346G>A c.(346-348)Gac>Aac p.D116N NM_002563 NP_002554 P47900 P2RY1_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA. 116 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CAATAAAACAGACTGGATCTT 0.493000 62 38 0 0 0.006230 0 0 ODZ1 10178 broad.mit.edu 37 X 123556329 123556329 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:123556329G>A uc010nqy.3 - 23 4328 c.4264C>T c.(4264-4266)Ctg>Ttg p.L1422L ODZ1_uc011muj.2_Silent_p.L1421L|ODZ1_uc004euj.3_Silent_p.L1415L NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1415 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 TTGCTGACCAGGAAATGATCG 0.527000 3 53 0 0 0.003610 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691122 39691122 + Nonsense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:39691122C>T uc002okq.1 + 4 704 c.685C>T c.(685-687)Cag>Tag p.Q229* NM_001001414 NP_001001414 Q6ZVX7 NCRP1_HUMAN Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA. 229 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 CCGCTGGGTCCAGGTGAGACT 0.667000 44 61 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179582416 179582416 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179582416C>T uc021vsy.1 - 83 21678 c.21453G>A c.(21451-21453)aaG>aaA p.K7151K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K3812K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8078 Ig-like 53. 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) GAACCCCATCCTTGTACCAAG 0.418000 20 17 0 0 0.007413 0 0 SCN10A 6336 broad.mit.edu 37 3 38748773 38748773 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:38748773G>A uc003ciq.3 - 24 4383 c.4383C>T c.(4381-4383)ccC>ccT p.P1461P NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1461 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) GGCTCACCAGGGGCCGTGGGA 0.547000 8 92 0 0 0.003610 0 0 PCDH18 54510 broad.mit.edu 37 4 138450761 138450761 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:138450761C>A uc003ihe.4 - 0 2869 c.2482G>T c.(2482-2484)Gtt>Ttt p.V828F PCDH18_uc003ihf.4_Missense_Mutation_p.V821F|PCDH18_uc011cgz.2_Missense_Mutation_p.V39F|PCDH18_uc003ihg.4_Missense_Mutation_p.V608F|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 828 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) CTTACCTCAACAGCAGGAGTG 0.393000 13 9 2.17888e-05 2.76499e-05 0.006214 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453137 + Missense_Mutation DNP AC TT TT rs121913377 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:140453136_140453137AC>TT uc003vwc.4 - 14 1859_1860 c.1798_1799GT>AA c.(1798-1800)gtg>AAg p.V600K NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAGA 0.366000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 3 108 0 0 0.004672 0 0 X97876 0 broad.mit.edu 37 9 66499748 66499748 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:66499748C>T uc004aee.1 + 0 558 c.558C>T c.(556-558)ttC>ttT p.F186F X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). CGTCCATTTTCGGGGTGGTGG 0.607000 75 6 0 0 0.008291 0 0 C9 735 broad.mit.edu 37 5 39331893 39331893 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:39331893G>A uc003jlv.4 - 4 589 c.500C>T c.(499-501)cCc>cTc p.P167L NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 167 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGTGCTTAGGGGATCCATCCC 0.458000 161 89 0 0 0.003610 0 0 PCDH17 27253 broad.mit.edu 37 13 58240614 58240614 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:58240614C>T uc001vhq.1 + 1 3470 c.2578C>T c.(2578-2580)Ccc>Tcc p.P860S PCDH17_uc010aec.1_Missense_Mutation_p.P860S|PCDH17_uc001vhr.1_5'Flank NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 860 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGACAATTTTCCCGCAGAGCC 0.403000 20 47 0 0 0.003610 0 0 OTOP2 92736 broad.mit.edu 37 17 72927228 72927228 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:72927228C>T uc010wrp.2 + 5 1590 c.1498C>T c.(1498-1500)Ctc>Ttc p.L500F NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN Homo sapiens otopetrin 2 (OTOP2), mRNA. 500 integral to membrane p.L500I(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) TTCTCTGTTTCTCCTACTCTG 0.557000 64 41 0 0 0.002222 0 0 FAT4 79633 broad.mit.edu 37 4 126408600 126408600 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:126408600C>T uc003ifj.4 + 15 12917 c.12917C>T c.(12916-12918)aCt>aTt p.T4306I FAT4_uc011cgp.2_Missense_Mutation_p.T2547I|FAT4_uc003ifi.1_Missense_Mutation_p.T1784I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4306 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D4306H(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 CACTGGCACACTTTTCTAATT 0.398000 23 17 0 0 0.004007 0 0 LOC285501 285501 broad.mit.edu 37 4 178911737 178911737 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:178911737G>A uc010iru.3 + 5 c.867G>A Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA. all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) GGATTGCTATGGCTCTGCCGG 0.398000 9 12 0 0 0.001368 0 0 CPE 1363 broad.mit.edu 37 4 166405684 166405684 + Missense_Mutation SNP C T T rs138641684 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:166405684C>T uc003irg.4 + 4 1178 c.901C>T c.(901-903)Cgc>Tgc p.R301C NM_001873 NP_001864 P16870 CBPE_HUMAN Homo sapiens carboxypeptidase E (CPE), mRNA. 301 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding p.R301C(2) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCCACCATGTCGCAAGAATGA 0.522000 130 97 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179449300 179449300 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179449300G>A uc021vsy.1 - 259 57499 c.57274C>T c.(57274-57276)Cct>Tct p.P19092S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Splice_Site|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P12787S|TTN_uc021vta.1_Missense_Mutation_p.P12720S|TTN_uc021vtb.1_Missense_Mutation_p.P12595S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20019 Fibronectin type-III 38. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P19092H(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) GGTTCACTAGGAACACCTGGA 0.393000 45 44 0 0 0.003214 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589626 67589626 + Nonsense_Mutation SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:67589626T>G uc003jva.3 + 10 1969 c.1389T>G c.(1387-1389)taT>taG p.Y463* PIK3R1_uc003jvc.3_Nonsense_Mutation_p.Y163*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.Y193*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.Y142*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.Y100*|PIK3R1_uc011crb.2_Nonsense_Mutation_p.Y133* NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 463 T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.E462_R465delEYDR(2)|p.Y463_L466del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.0?(1)|p.?(1)|p.E462*(1)|p.Y463fs*1(1)|p.Y463C(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GTCGAGAATATGATAGATTAT 0.294000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 3 31 0 0 0.002096 0 0 PHLPP1 23239 broad.mit.edu 37 18 60563136 60563136 + Missense_Mutation SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:60563136T>G uc021ule.1 + 5 2581 c.2336T>G c.(2335-2337)tTg>tGg p.L779W NM_194449 NP_919431 O60346 PHLP1_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA. 779 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CCCGAAGTATTGGAGAAATTG 0.408000 10 96 0 0 0.003610 0 0 KCNH7 90134 broad.mit.edu 37 2 163694971 163694971 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:163694971G>A uc002uch.2 - 0 287 c.58C>T c.(58-60)Cgg>Tgg p.R20W KCNH7_uc002uci.3_Missense_Mutation_p.R20W NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 20 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCAAATTTCCGAATGATGGTC 0.567000 45 25 0 0 0.006320 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815267 106815267 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:106815267G>A uc003ymd.3 + 7 2980 c.2957G>A c.(2956-2958)gGa>gAa p.G986E ZFPM2_uc011lhs.2_Missense_Mutation_p.G717E NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 986 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCATATTATGGAATCAAGCCA 0.403000 12 10 0 0 0.006214 0 0 KIAA0895 23366 broad.mit.edu 37 7 36373679 36373679 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:36373679G>A uc003tfd.2 - 4 1143 c.1092C>T c.(1090-1092)ccC>ccT p.P364P KIAA0895_uc003tfc.2_Silent_p.P351P|KIAA0895_uc011kax.1_Silent_p.P361P|KIAA0895_uc003tfb.2_Silent_p.P313P|KIAA0895_uc011kaw.2_Silent_p.P261P NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA. 364 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTTCCTCTGTGGGATTATTTG 0.438000 75 23 0 0 0.001882 0 0 PGAP1 80055 broad.mit.edu 37 2 197712707 197712707 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:197712707A>G uc002utw.3 - 20 2030 c.1916T>C c.(1915-1917)gTt>gCt p.V639A PGAP1_uc002utx.3_Missense_Mutation_p.V465A|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.3_5'Flank NM_024989 NP_079265 Q75T13 PGAP1_HUMAN Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA. 639 C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity p.K638E(1) breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 AAAAGGATCAACTTTGTATGG 0.279000 52 43 0 0 0.003610 0 0 OR51B2 79345 broad.mit.edu 37 11 5345045 5345045 + Silent SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:5345045A>T uc001mao.1 - 0 538 c.483T>A c.(481-483)ctT>ctA p.L161L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R160R(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAATGAAAAAAGACGCAAAA 0.403000 17 33 0 0 0.002096 0 0 GDA 9615 broad.mit.edu 37 9 74764524 74764524 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:74764524T>C uc004air.3 + 0 258 c.49T>C c.(49-51)Ttc>Ctc p.F17L GDA_uc011lse.2_Intron|GDA_uc004aiq.3_Missense_Mutation_p.F17L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_5'UTR|GDA_uc004ais.3_5'UTR NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 17 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding p.F17F(2) 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) CCGAGGGACGTTCGTCCACTC 0.701000 0 19 0 0 0.008871 0 0 C4B 721 broad.mit.edu 37 6 31963847 31963847 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:31963847T>C uc011doy.2 + 25 3397 c.3346T>C c.(3346-3348)Tcg>Ccg p.S1116P C4B_uc011doz.2_Missense_Mutation_p.S1116P NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 1116 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGCTGACGGCTCGTTCCAGGA 0.612000 103 42 0 0 0.002522 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912696 54912696 + Splice_Site SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:54912696A>G uc001sgc.4 + 15 1500 c.1421_splice c.e15-2 p.V474_splice NCKAP1L_uc010sox.2_Splice_Site_p.V16_splice|NCKAP1L_uc010soy.2_Splice_Site_p.V424_splice NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 474 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 TTTTTCTTGCAGTTGATAATG 0.378000 30 6 0 0 0.001984 0 0 SORL1 6653 broad.mit.edu 37 11 121348870 121348870 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:121348870C>T uc001pxx.3 + 2 575 c.446C>T c.(445-447)tCa>tTa p.S149L NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 149 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) AAGAAAATTTCAGACAAGTTA 0.438000 3 14 0 0 0.002450 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140257140 140257140 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:140257140G>A uc003lic.2 + 0 2210 c.2083G>A c.(2083-2085)Gat>Aat p.D695N 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_uc011daf.2_Missense_Mutation_p.D695N NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 703 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) GGCTCTGGTGGATATTAACGT 0.652000 3 33 0 0 0.003755 0 0 PLCB1 23236 broad.mit.edu 37 20 8717712 8717712 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:8717712G>A uc002wnb.3 + 19 2084 c.2081G>A c.(2080-2082)gGg>gAg p.G694E PLCB1_uc010zrb.1_Missense_Mutation_p.G593E|PLCB1_uc002wna.3_Missense_Mutation_p.G694E|PLCB1_uc002wnc.1_Missense_Mutation_p.G593E|PLCB1_uc002wnd.1_Missense_Mutation_p.G271E NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 694 C2. 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 AAGAAAGTTGGGACTTACGTG 0.353000 70 36 0 0 0.004878 0 0 PTPN4 5775 broad.mit.edu 37 2 120702669 120702670 + Missense_Mutation DNP CC TT TT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:120702669_120702670CC>TT uc002tmf.1 + 15 2139_2140 c.1368_1369CC>TT c.(1366-1371)acccct>acTTct p.P457S PTPN4_uc010flj.1_Missense_Mutation_p.P170S|PTPN4_uc010yyr.1_Missense_Mutation_p.P90S NM_002830 NP_002821 P29074 PTN4_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA. 457 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) CACAAGAGACCCCTGGAGATGG 0.381000 43 22 0 0 0.004672 0 0 CLDN18 51208 broad.mit.edu 37 3 137717743 137717743 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:137717743C>T uc003ero.1 + 0 86 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001002026 NP_001002026 P56856 CLD18_HUMAN Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA. 11 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 GCTTGGGGTTCGTGGTTTCAC 0.557000 57 55 0 0 0.003610 0 0 PDZD2 23037 broad.mit.edu 37 5 31799756 31799756 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:31799756G>A uc003jhl.3 + 1 789 c.401G>A c.(400-402)gGg>gAg p.G134E PDZD2_uc003jhm.3_Missense_Mutation_p.G134E NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 134 PDZ 1. 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 GGGAAGAGTGGGAAGGTCCGA 0.592000 80 43 0 0 0.008740 0 0 ATP12A 479 broad.mit.edu 37 13 25268653 25268653 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:25268653G>A uc010aaa.3 + 10 1800 c.1467G>A c.(1465-1467)atG>atA p.M489I ATP12A_uc001upp.3_Missense_Mutation_p.M483I NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 483 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GTGATGTGATGGAAATTAGAA 0.368000 OREG0022298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 73 0 0 0.003610 0 0 DNER 92737 broad.mit.edu 37 2 230231656 230231656 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:230231656C>T uc002vpv.3 - 11 2182 c.2035G>A c.(2035-2037)Gag>Aag p.E679K NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 679 Interaction with AP1G1 and somatodendritic targeting (By similarity). 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.E679*(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) TTGTAGAACTCCTCATAGGCT 0.582000 3 40 0 0 0.005524 0 0 SCN5A 6331 broad.mit.edu 37 3 38592525 38592525 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:38592525C>T uc021wvo.1 - 26 5390 c.5338G>A c.(5338-5340)Gag>Aag p.E1780K SCN5A_uc021wvk.1_Missense_Mutation_p.E1747K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1726K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1762K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1779K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1780K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1592K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1646K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1780 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGCTCTCCTCCGTGGCCACG 0.507000 6 34 0 0 0.007835 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458543 45458543 + RNA SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:45458543C>T uc001rol.3 - 0 c.652G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. AACGAGTTTCCTTTACAGGTC 0.488000 19 14 0 0 0.004007 0 0 HACL1 26061 broad.mit.edu 37 3 15610009 15610009 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:15610009C>T uc003caf.3 - 12 1340 c.1180G>A c.(1180-1182)Gtg>Atg p.V394M HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Missense_Mutation_p.V153M|HACL1_uc011avs.2_Missense_Mutation_p.V367M|HACL1_uc011avt.2_Missense_Mutation_p.V334M|HACL1_uc003cag.3_Missense_Mutation_p.V38M|HACL1_uc011avu.2_Missense_Mutation_p.V312M NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA. 394 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding p.F393F(1) NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TCACTTACCACGAAACAGTCT 0.403000 64 50 0 0 0.003610 0 0 ELL2 22936 broad.mit.edu 37 5 95233952 95233952 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:95233952G>A uc003klr.4 - 7 1867 c.1517C>T c.(1516-1518)tCc>tTc p.S506F NM_012081 NP_036213 O00472 ELL2_HUMAN Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA. 506 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) ACCTCCACTGGAATTTGGACT 0.348000 8 46 0 0 0.003610 0 0 ABCB5 340273 broad.mit.edu 37 7 20778677 20778677 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:20778677A>T uc010kuh.3 + 23 3176 c.2939A>T c.(2938-2940)aAa>aTa p.K980I ABCB5_uc003suw.4_Missense_Mutation_p.K535I NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 535 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAATATTCCAAAGCCAAATCG 0.428000 38 5 0 0 0.001168 0 0 B3GALTL 145173 broad.mit.edu 37 13 31848745 31848745 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:31848745C>T uc010aaz.3 + 8 870 c.760C>T c.(760-762)Cat>Tat p.H254Y B3GALTL_uc001utn.4_Non-coding_Transcript NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA. 254 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) TACCACATTCCATTCTTTTCT 0.438000 24 57 0 0 0.003610 0 0 SMC5 23137 broad.mit.edu 37 9 72933761 72933761 + Nonsense_Mutation SNP G T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:72933761G>T uc004ahr.2 + 14 2149 c.2032G>T c.(2032-2034)Gaa>Taa p.E678* AX748336_uc004ahs.1_5'Flank NM_015110 NP_055925 Q8IY18 SMC5_HUMAN Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA. 678 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 TGCCTTACGTGAAACAAGCAA 0.323000 8 11 5.16669e-11 6.63657e-11 0.000978 1 0 FOXP2 93986 broad.mit.edu 37 7 114282577 114282577 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:114282577C>T uc003vhb.3 + 6 1262 c.888C>T c.(886-888)tcC>tcT p.S296S FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.S321S|FOXP2_uc003vha.3_Silent_p.S204S|FOXP2_uc011kmv.2_Silent_p.S295S|FOXP2_uc011kmu.2_Silent_p.S313S|FOXP2_uc010ljz.2_Silent_p.S204S|FOXP2_uc003vgx.2_Silent_p.S296S|FOXP2_uc003vhc.3_Silent_p.S321S|FOXP2_uc003vhd.3_Silent_p.S296S NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 296 DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CTAACAATTCCTCCTCGACTA 0.443000 85 33 0 0 0.002445 0 0 ZNF808 388558 broad.mit.edu 37 19 53058580 53058580 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:53058580C>T uc010epq.1 + 4 2588 c.2411C>T c.(2410-2412)tCa>tTa p.S804L ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 804 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GTGCGTAATTCATACCTGGCA 0.403000 128 57 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179582006 179582006 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179582006G>A uc021vsy.1 - 84 21948 c.21723C>T c.(21721-21723)atC>atT p.I7241I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I3902I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8168 Ig-like 54. 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) AAGTGATTTTGATTGGTGCAG 0.423000 40 40 0 0 0.005524 0 0 FAM194A 131831 broad.mit.edu 37 3 150404122 150404122 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:150404122C>T uc003eyg.3 - 3 630 c.573G>A c.(571-573)gaG>gaA p.E191E FAM194A_uc003eyh.3_Silent_p.E45E NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 191 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTTCAGCTTTCTCTTTAGAGG 0.383000 40 35 0 0 0.006999 0 0 NEB 4703 broad.mit.edu 37 2 152500476 152500476 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:152500476C>T uc021vrb.1 - 54 7841 c.7812G>A c.(7810-7812)gtG>gtA p.V2604V NEB_uc002txu.3_Silent_p.V2604V|NEB_uc021vrc.1_Silent_p.V2604V|NEB_uc010fnx.3_Silent_p.V2604V|NEB_uc021vrd.1_Silent_p.V2604V NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2604 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 p.P2603Q(1) 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) CCAGCATGTCCACTGGGCTGC 0.547000 286 211 0 0 0.003610 0 0 FUT8 2530 broad.mit.edu 37 14 66200026 66200026 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:66200026C>T uc001xin.3 + 9 3064 c.1337C>T c.(1336-1338)tCa>tTa p.S446L FUT8_uc001xio.3_Missense_Mutation_p.S446L|FUT8_uc010tsp.2_Missense_Mutation_p.S283L|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.S446L|FUT8_uc001xiq.3_Missense_Mutation_p.S317L|FUT8_uc021ruy.1_Missense_Mutation_p.S317L NM_178155 NP_004471 Q9BYC5 FUT8_HUMAN Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA. 446 L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi Golgi cisterna membrane|integral to membrane SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ACAGAAAATTCACTTCGTGGA 0.358000 74 45 0 0 0.003214 0 0 MFN1 55669 broad.mit.edu 37 3 179096489 179096489 + Nonsense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:179096489C>T uc003fjt.3 + 12 1640 c.1633C>T c.(1633-1635)Caa>Taa p.Q545* MFN1_uc003fjs.3_Nonsense_Mutation_p.Q517*|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA. 517 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TTCAGATTTTCAAGAGGATAT 0.388000 30 25 0 0 0.002780 0 0 GALNT14 79623 broad.mit.edu 37 2 31135116 31135116 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:31135116G>A uc002rns.3 - 14 2128 c.1488C>T c.(1486-1488)gtC>gtT p.V496V GALNT14_uc002rnq.3_Silent_p.V471V|GALNT14_uc010ymr.2_Silent_p.V456V|GALNT14_uc002rnr.3_Silent_p.V491V NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 491 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.G496*(1) cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TCTTGCAAAGGACAAGAACCA 0.562000 71 59 0 0 0.003610 0 0 THSD1 55901 broad.mit.edu 37 13 52951929 52951929 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:52951929G>A uc001vgo.3 - 4 2721 c.2176C>T c.(2176-2178)Cct>Tct p.P726S THSD1_uc001vgp.3_Missense_Mutation_p.P673S|THSD1_uc010tgz.2_Missense_Mutation_p.P347S NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 726 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TAGGATTTAGGGAGAGGGTTT 0.537000 116 37 0 0 0.002222 0 0 ZNF354B 117608 broad.mit.edu 37 5 178294031 178294031 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:178294031C>T uc003mjl.3 + 3 441 c.215C>T c.(214-216)cCc>cTc p.P72L ZNF354B_uc003mjm.3_Missense_Mutation_p.P72L NM_058230 NP_478137 Q96LW1 Z354B_HUMAN Homo sapiens zinc finger protein 354B (ZNF354B), mRNA. 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGAAGATCCCTGGGAGGTG 0.488000 69 38 0 0 0.002222 0 0 TREML2 79865 broad.mit.edu 37 6 41165918 41165918 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:41165918C>T uc010jxm.1 - 1 484 c.305G>A c.(304-306)cGa>cAa p.R102Q NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 102 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GCACCAGTATCGGCCTGAGTC 0.617000 61 61 0 0 0.003610 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389555 1389555 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:1389555C>T uc003gdf.2 + 0 4216 c.1256C>T c.(1255-1257)aCc>aTc p.T419I NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA. 419 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GACGCTGTTACCGTACATTCT 0.488000 33 46 0 0 0.003214 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35449894 35449894 + RNA SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:35449894A>G uc010mko.3 + 10 c.1304A>G ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA. GAATAAGCCAACCTGCAACCT 0.433000 3 17 0 0 0.004007 0 0 SLC10A5 347051 broad.mit.edu 37 8 82607038 82607038 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:82607038G>A uc011lfs.2 - 0 170 c.170C>T c.(169-171)tCc>tTc p.S57F NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA. 57 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 GAGGTGGCTGGAATTAGGCCG 0.353000 72 32 0 0 0.002096 0 0 MORC1 27136 broad.mit.edu 37 3 108690227 108690227 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:108690227G>A uc003dxl.3 - 24 2587 c.2500C>T c.(2500-2502)Cct>Tct p.P834S MORC1_uc011bhn.2_Missense_Mutation_p.P813S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 834 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 TGATGCTCAGGAAAAAAATAC 0.403000 48 29 0 0 0.006320 0 0 NOL4 8715 broad.mit.edu 37 18 31684052 31684052 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:31684052T>C uc010dmi.3 - 3 896 c.598A>G c.(598-600)Aaa>Gaa p.K200E NOL4_uc002kxr.4_Missense_Mutation_p.K36E|NOL4_uc010xbt.2_Missense_Mutation_p.K126E|NOL4_uc010dmh.3_Missense_Mutation_p.K126E|NOL4_uc010xbu.2_Missense_Mutation_p.K200E|NOL4_uc002kxt.4_Missense_Mutation_p.K200E NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 200 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TTCATGTGTTTCATGTAGGCC 0.363000 67 31 0 0 0.002836 0 0 OR8A1 390275 broad.mit.edu 37 11 124440223 124440223 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:124440223G>A uc010san.2 + 0 259 c.259G>A c.(259-261)Gat>Aat p.D87N NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 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;0.0214) GTCACTCATGGATCTCTGCTA 0.488000 11 42 0 0 0.003610 0 0 ASGR2 433 broad.mit.edu 37 17 7017517 7017517 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:7017517C>T uc002gep.3 - 1 310 c.43G>A c.(43-45)Gaa>Aaa p.E15K ASGR2_uc002gen.1_Missense_Mutation_p.E15K|ASGR2_uc002geo.2_Missense_Mutation_p.E15K|ASGR2_uc002geq.3_Missense_Mutation_p.E15K|ASGR2_uc002ger.3_Missense_Mutation_p.E15K|ASGR2_uc010clw.2_Missense_Mutation_p.E15K|ASGR2_uc010vtl.1_Non-coding_Transcript NM_001181 NP_550434 P07307 ASGR2_HUMAN Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA. 15 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) TGGTCATTTTCCTCCGAGCTC 0.572000 64 30 0 0 0.002445 0 0 SPAG5 10615 broad.mit.edu 37 17 26939359 26939359 + Silent SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:26939359C>A uc010crq.2 - 5 605 c.573G>T c.(571-573)ctG>ctT p.L191L SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Silent_p.L191L NM_001174103 NP_001167574 Q96R06 SPAG5_HUMAN Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA. 980 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) AAAGGGAGTACAGATCTGTGC 0.517000 15 19 5.35267e-07 6.82546e-07 0.007413 1 0 SEMA3E 9723 broad.mit.edu 37 7 83029425 83029425 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:83029425C>T uc003uhy.2 - 10 1906 c.1285G>A c.(1285-1287)Gga>Aga p.G429R SEMA3E_uc022agy.1_Missense_Mutation_p.G369R NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 429 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TTATATTTTCCATCTGTTTTT 0.403000 120 84 0 0 0.003610 0 0 SSPO 23145 broad.mit.edu 37 7 149490679 149490679 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:149490679G>A uc010lpk.3 + 39 6044 c.6044G>A c.(6043-6045)gGa>gAa p.G2015E NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2018 VWFC 2. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGGGACGGGAGAATCATGC 0.637000 87 51 0 0 0.003610 0 0 FMO2 2327 broad.mit.edu 37 1 171178045 171178045 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:171178045C>T uc001ghk.1 + 8 1486 c.1369C>T c.(1369-1371)Cct>Tct p.P457S FMO2_uc010pmd.1_Missense_Mutation_p.P237S NM_001460 NP_001451 Q99518 FMO2_HUMAN Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA. 457 NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTCAAAGATCCTAAACTGGC 0.502000 18 234 0 0 0.003610 0 0 OR4E2 26686 broad.mit.edu 37 14 22133417 22133417 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:22133417G>A uc010tmd.2 + 0 121 c.121G>A c.(121-123)Ggg>Agg p.G41R NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41W(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) AACGCTTTCAGGGAACATTCT 0.433000 167 161 0 0 0.003610 0 0 MYH13 8735 broad.mit.edu 37 17 10216538 10216538 + Missense_Mutation SNP G T T rs62060459 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:10216538G>T uc002gmk.1 - 29 4208 c.4118C>A c.(4117-4119)gCc>gAc p.A1373D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1373 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCTCCACTGGGCAACCTCACT 0.637000 136 46 1.02067e-35 1.33218e-35 0.003610 1 0 YPEL3 83719 broad.mit.edu 37 16 30104120 30104120 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:30104120C>T uc002dwl.3 - 4 1103 c.385_splice c.e4-1 p.E129_splice BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Splice_Site_p.E91_splice NM_031477 NP_001138996 P61236 YPEL3_HUMAN Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA. 91 nucleolus endometrium(1)|lung(2) 3 AAGGCCTGTTCCTGAAAGGAG 0.552000 OREG0023730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 38 0 0 0.006999 0 0 PON1 5444 broad.mit.edu 37 7 94991760 94991760 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:94991760G>A uc003unt.3 - 7 845 c.820C>T c.(820-822)Cct>Tct p.P274S PON1_uc011kih.2_Intron NM_000940 NP_000931 P27169 PON1_HUMAN Homo sapiens paraoxonase 3 (PON3), mRNA. 275 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) CCTGTGGCAGGATCGACAGTC 0.463000 62 35 0 0 0.004878 0 0 SLC22A2 6582 broad.mit.edu 37 6 160668235 160668235 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:160668235G>A uc003qtf.3 - 4 1112 c.938C>T c.(937-939)tCt>tTt p.S313F NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 313 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.S313P(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGCGGGTAGAGATTTTCCATT 0.483000 4 50 0 0 0.003610 0 0 KIF16B 55614 broad.mit.edu 37 20 16486750 16486750 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:16486750G>A uc002wpg.2 - 7 944 c.785C>T c.(784-786)aCc>aTc p.T262I KIF16B_uc010gch.2_Missense_Mutation_p.T262I|KIF16B_uc010gci.2_Missense_Mutation_p.T262I|KIF16B_uc010gcj.2_Missense_Mutation_p.T262I NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 262 Kinesin-motor. Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.A261A(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GGTGGCTCCGGTGGCATCTGC 0.488000 95 81 0 0 0.003610 0 0 NUP54 53371 broad.mit.edu 37 4 77045902 77045902 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:77045902G>A uc003hjs.3 - 8 1192 c.1064C>T c.(1063-1065)tCt>tTt p.S355F NUP54_uc010ije.3_Missense_Mutation_p.S73F|NUP54_uc011cbs.2_Missense_Mutation_p.S175F|NUP54_uc011cbt.2_Missense_Mutation_p.S307F|NUP54_uc003hjt.3_Intron NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN Homo sapiens nucleoporin 54kDa (NUP54), mRNA. 355 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AATATCTTCAGATATGATCTG 0.343000 27 8 0 0 0.003080 0 0 PTPRA 5786 broad.mit.edu 37 20 3003388 3003388 + Missense_Mutation SNP T G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:3003388T>G uc010zqd.2 + 14 1732 c.1415T>G c.(1414-1416)aTg>aGg p.M472R PTPRA_uc002whj.3_Missense_Mutation_p.M461R|PTPRA_uc002whk.3_Missense_Mutation_p.M452R|PTPRA_uc002whl.3_Missense_Mutation_p.M452R|PTPRA_uc002whm.3_Missense_Mutation_p.M228R|PTPRA_uc002whn.3_Missense_Mutation_p.M452R|PTPRA_uc002who.3_Missense_Mutation_p.M124R NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 461 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ATGCTGGACATGATGCATACA 0.562000 32 42 0 0 0.002222 0 0 ALOX12B 242 broad.mit.edu 37 17 7989361 7989361 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:7989361C>T uc002gjy.1 - 1 586 c.325G>A c.(325-327)Gag>Aag p.E109K MIR4314_uc021tpn.1_5'Flank NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 109 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GCCAGGGTCTCGTAGCCATCC 0.607000 Multiple Myeloma(8;0.094) 69 23 0 0 0.005443 0 0 FMN2 56776 broad.mit.edu 37 1 240635710 240635710 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:240635710G>A uc010pye.2 + 17 5336 c.5111G>A c.(5110-5112)gGa>gAa p.G1704E FMN2_uc010pyd.2_Missense_Mutation_p.G1700E|FMN2_uc010pyg.2_Missense_Mutation_p.G296E|FMN2_uc001hyr.3_Non-coding_Transcript NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1700 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) CAGAAGAAAGGAAAATCACTT 0.318000 42 38 0 0 0.003610 0 0 GALNT13 114805 broad.mit.edu 37 2 155115593 155115593 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:155115593G>A uc002tyt.4 + 5 1021 c.917G>A c.(916-918)gGa>gAa p.G306E GALNT13_uc002tyr.4_Missense_Mutation_p.G306E|GALNT13_uc010foc.1_Missense_Mutation_p.G125E|GALNT13_uc010fod.3_Missense_Mutation_p.G59E NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 306 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GAAGAGATAGGAACTTACGAT 0.333000 54 55 0 0 0.003610 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90573850 90573850 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:90573850C>T uc003pnr.3 + 6 2618 c.2422C>T c.(2422-2424)Cct>Tct p.P808S CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.P808S|CASP8AP2_uc011dzz.2_Missense_Mutation_p.P808S NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA. 808 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GCCTTGCTTACCTAAAGAGAC 0.398000 10 73 0 0 0.003610 0 0 ILDR1 286676 broad.mit.edu 37 3 121712685 121712685 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:121712685G>A uc003ees.3 - 6 1114 c.911C>T c.(910-912)cCt>cTt p.P304L ILDR1_uc003eeq.3_Missense_Mutation_p.P272L|ILDR1_uc003eer.3_Missense_Mutation_p.P260L|ILDR1_uc010hrg.3_Missense_Mutation_p.P215L NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 304 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TTTGAGGTCAGGGGGCAGAGG 0.582000 47 42 0 0 0.008740 0 0 ATXN2 6311 broad.mit.edu 37 12 111990718 111990718 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:111990718T>C uc001tsj.3 - 3 1054 c.892A>G c.(892-894)Agt>Ggt p.S298G ATXN2_uc001tsh.3_Missense_Mutation_p.S33G|ATXN2_uc001tsi.3_Intron|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.S33G NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 298 RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network RNA binding|protein C-terminus binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 ACCTTCGGACTGTAAGTTTTA 0.269000 12 28 0 0 0.005443 0 0 ZNF304 57343 broad.mit.edu 37 19 57868434 57868434 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:57868434C>T uc010etw.3 + 3 1726 c.1338C>T c.(1336-1338)ttC>ttT p.F446F ZNF304_uc010ygw.2_Silent_p.F399F|ZNF304_uc010etx.3_Silent_p.F357F NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN Homo sapiens zinc finger protein 304 (ZNF304), mRNA. 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GTGGAAAATTCTTTAGCCAAA 0.428000 21 24 0 0 0.003330 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704373 60704373 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:60704373C>A uc001nqi.3 + 10 3262 c.3069C>A c.(3067-3069)agC>agA p.S1023R TMEM132A_uc001nqj.3_Missense_Mutation_p.S1022R NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 1022 Confers cellular localization similar to full-length form (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TCCGGGGCAGCTCCTGACCCT 0.652000 19 20 1.64113e-05 2.08511e-05 0.001523 1 0 DNAH7 56171 broad.mit.edu 37 2 196722348 196722348 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:196722348G>A uc002utj.4 - 43 8268 c.8167C>T c.(8167-8169)Cct>Tct p.P2723S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2723 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GTTGGGTCAGGGATTTTGTCA 0.428000 35 29 0 0 0.005443 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66768134 66768135 + Missense_Mutation DNP CC TT TT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:66768134_66768135CC>TT uc002eqb.1 - 5 810_811 c.779_780GG>AA c.(778-780)agg>aAA p.R260K DYNC1LI2_uc010vis.1_Missense_Mutation_p.R183K|DYNC1LI2_uc010vit.2_Missense_Mutation_p.R260K|DYNC1LI2_uc010viu.2_Missense_Mutation_p.R221K NM_006141 NP_006132 O43237 DC1L2_HUMAN Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA. 260 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity p.R259W(1) central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) GAAGGCAGAACCTCCGCAGGTG 0.535000 32 21 0 0 0.004672 0 0 OR52A1 23538 broad.mit.edu 37 11 5172742 5172742 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:5172742G>A uc010qyy.2 - 0 858 c.858C>T c.(856-858)gtC>gtT p.V286V NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 286 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) GAAATGGAGGGACCAGCAAGT 0.403000 45 65 0 0 0.003610 0 0 BRS3 680 broad.mit.edu 37 X 135572629 135572629 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:135572629C>T uc004ezv.1 + 1 921 c.772C>T c.(772-774)Cat>Tat p.H258Y NM_001727 NP_001718 P32247 BRS3_HUMAN Homo sapiens bombesin-like receptor 3 (BRS3), mRNA. 258 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) GGAACAAAGCCATGCCCGTAA 0.383000 1 18 0 0 0.007413 0 0 CSMD3 114788 broad.mit.edu 37 8 113277716 113277716 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:113277716C>T uc003ynu.3 - 59 9771 c.9612G>A c.(9610-9612)acG>acA p.T3204T CSMD3_uc003yns.3_Silent_p.T2406T|CSMD3_uc003ynt.3_Silent_p.T3164T|CSMD3_uc011lhx.2_Silent_p.T3035T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3204 Sushi 24. integral to membrane|plasma membrane p.T3204T(2)|p.T3164T(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 TCAATTCCATCGTGTAGCCTG 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 79 32 0 0 0.002836 0 0 ZPLD1 131368 broad.mit.edu 37 3 102187870 102187870 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:102187870C>T uc003dvt.1 + 7 972 c.872C>T c.(871-873)tCt>tTt p.S291F ZPLD1_uc003dvs.1_Missense_Mutation_p.S275F|ZPLD1_uc011bhg.1_Missense_Mutation_p.S275F NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 275 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GGCCGGTTTTCTTTTGAAGTG 0.488000 40 30 0 0 0.001786 0 0 ACTL9 284382 broad.mit.edu 37 19 8808605 8808605 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:8808605G>A uc002mkl.2 - 0 568 c.447C>T c.(445-447)tcC>tcT p.S149S NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 149 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 AGGGTGGGTCGGAGAACAGCA 0.682000 67 23 0 0 0.005443 0 0 TCRBV5S2 0 broad.mit.edu 37 7 142131625 142131625 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:142131625G>A uc010lnz.1 - 1 174 c.130C>T c.(130-132)Cct>Tct p.P44S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; CCAGACTTAGGAGAGCATCTC 0.527000 100 63 0 0 0.003610 0 0 WDR43 23160 broad.mit.edu 37 2 29164408 29164408 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:29164408C>T uc002rmo.2 + 14 1734 c.1702C>T c.(1702-1704)Ctt>Ttt p.L568F NM_015131 NP_055946 Q15061 WDR43_HUMAN Homo sapiens WD repeat domain 43 (WDR43), mRNA. 568 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) ACTTTCACACCTTCATGGAAA 0.393000 22 11 0 0 0.008291 0 0 FLAD1 80308 broad.mit.edu 37 1 154960824 154960824 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:154960824G>A uc001fgf.2 + 1 1017 c.616G>A c.(616-618)Gaa>Aaa p.E206K FLAD1_uc001fgc.3_Missense_Mutation_p.E107K|FLAD1_uc001fgd.2_Missense_Mutation_p.E206K|FLAD1_uc001fge.2_Missense_Mutation_p.E109K|FLAD1_uc001fgg.2_Missense_Mutation_p.E109K|FLAD1_uc021paj.1_Missense_Mutation_p.E107K|FLAD1_uc001fgh.1_5'UTR NM_025207 NP_958800 Q8NFF5 FAD1_HUMAN Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA. 206 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.E206E(1) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCCAAGTTGGAAGCAGCCAC 0.582000 80 58 0 0 0.003610 0 0 ATP8A2 51761 broad.mit.edu 37 13 26117518 26117518 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:26117518G>A uc001uqk.3 + 9 1011 c.869G>A c.(868-870)gGa>gAa p.G290E ATP8A2_uc010tdi.2_Missense_Mutation_p.G250E|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.G250E NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 250 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GTTTATACTGGACACGACACC 0.378000 162 49 0 0 0.003610 0 0 UNC5CL 222643 broad.mit.edu 37 6 41001633 41001633 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:41001633G>A uc003opi.3 - 2 772 c.673C>T c.(673-675)Ctc>Ttc p.L225F UNC5CL_uc010jxe.1_Missense_Mutation_p.L225F NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA. 225 Interaction with RELA and NFKB1. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) AAGTGGGAGAGGTGGATGCGA 0.607000 34 51 0 0 0.003610 0 0 AOAH 313 broad.mit.edu 37 7 36588261 36588261 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:36588261C>A uc022abu.1 - 14 1491 c.1090G>T c.(1090-1092)Gcc>Tcc p.A364S AOAH_uc003tfh.4_Missense_Mutation_p.A364S|AOAH_uc011kba.2_Missense_Mutation_p.A332S NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 364 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity p.P363P(1) 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 ATAACGATGGCGGGATAGTCC 0.438000 68 17 8.28177e-16 1.07032e-15 0.007413 1 0 LRRC31 79782 broad.mit.edu 37 3 169574597 169574597 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:169574597C>T uc003fgc.1 - 3 616 c.551G>A c.(550-552)gGa>gAa p.G184E LRRC31_uc010hwp.1_Missense_Mutation_p.G128E NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 184 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CAAATTTCCTCCCACTTTACT 0.413000 56 42 0 0 0.007835 0 0 EVI5L 115704 broad.mit.edu 37 19 7913848 7913848 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:7913848C>T uc010xjz.2 + 2 416 c.369C>T c.(367-369)atC>atT p.I123I EVI5L_uc002min.3_Silent_p.I123I|EVI5L_uc002mio.1_5'Flank NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 123 Rab-GAP TBC. intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 TCCGGGCCATCGTGTGGCAGC 0.677000 8 23 0 0 0.006320 0 0 TBL1X 6907 broad.mit.edu 37 X 9660253 9660253 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:9660253G>A uc004csr.3 + 8 1337 c.850G>A c.(850-852)Gac>Aac p.D284N TBL1X_uc004csq.4_Missense_Mutation_p.D233N|TBL1X_uc010ndr.3_Missense_Mutation_p.D233N|TBL1X_uc010ndq.3_Missense_Mutation_p.D284N|TBL1X_uc004css.3_Missense_Mutation_p.D235N NM_005647 NP_001132940 O60907 TBL1X_HUMAN Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA. 284 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GGGGGGCCATGACGTCCCGAG 0.537000 6 44 0 0 0.002852 0 0 GJD2 57369 broad.mit.edu 37 15 35045084 35045085 + Missense_Mutation DNP GG AA AA rs142736723 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:35045084_35045085GG>AA uc001zis.1 - 1 560_561 c.560_561CC>TT c.(559-561)tcc>tTT 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) TTCTGAGCTTGGATTTTGATGC 0.485000 83 77 0 0 0.004672 0 0 ZNF569 148266 broad.mit.edu 37 19 37903866 37903866 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:37903866A>G uc002ogj.3 - 8 2698 c.1766T>C c.(1765-1767)cTt>cCt p.L589P ZNF569_uc002ogh.3_Missense_Mutation_p.L406P|ZNF569_uc002ogi.3_Missense_Mutation_p.L565P NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTAAATTAAGCAGTGAGCA 0.403000 62 28 0 0 0.005443 0 0 MDN1 23195 broad.mit.edu 37 6 90402487 90402487 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:90402487G>A uc003pnn.1 - 62 10378 c.10262C>T c.(10261-10263)tCa>tTa p.S3421L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 3421 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTGTGGAGTGAGGTGTGGAG 0.582000 4 58 0 0 0.003610 0 0 CADM2 253559 broad.mit.edu 37 3 85984950 85984950 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:85984950C>T uc003dql.3 + 5 713 c.713C>T c.(712-714)cCt>cTt p.P238L CADM2_uc003dqj.3_Missense_Mutation_p.P236L|CADM2_uc003dqk.3_Missense_Mutation_p.P245L|CADM2_uc003dqm.2_Missense_Mutation_p.P128L|CADM2_uc021xay.1_Missense_Mutation_p.P128L|CADM2_uc021xaz.1_Missense_Mutation_p.P128L|CADM2_uc021xba.1_Missense_Mutation_p.P128L NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 236 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CCATCGACTCCTTTTCCACAA 0.299000 108 72 0 0 0.003610 0 0 ZNF3 7551 broad.mit.edu 37 7 99669472 99669472 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:99669472G>A uc003uss.3 - 2 974 c.656C>T c.(655-657)aCt>aTt p.T219I ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.T212I|ZNF3_uc010lgj.3_Missense_Mutation_p.T176I|ZNF3_uc003usr.3_Missense_Mutation_p.T212I|ZNF3_uc003ust.4_Missense_Mutation_p.T212I P17036 ZNF3_HUMAN Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA. 212 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T212I(1) NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) AAGGTCTGAAGTTCGATTAAA 0.458000 77 46 0 0 0.003214 0 0 TMEM109 79073 broad.mit.edu 37 11 60688446 60688446 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:60688446C>T uc001nqg.3 + 2 704 c.326C>T c.(325-327)gCc>gTc p.A109V NM_024092 NP_076997 Q9BVC6 TM109_HUMAN Homo sapiens transmembrane protein 109 (TMEM109), mRNA. 109 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 CTGCTGAATGCCTTGGGACTA 0.532000 78 30 0 0 0.008361 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190680 39190680 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:39190680T>C uc002hvv.3 - 0 428 c.394A>G c.(394-396)Acc>Gcc p.T132A NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA. 142 extracellular region|keratin filament structural constituent of epidermis p.T132I(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCAGGTTGGGGGTGTG 0.672000 38 18 0 0 0.004990 0 0 CDH9 1007 broad.mit.edu 37 5 26903764 26903764 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:26903764C>T uc003jgs.1 - 5 1150 c.981G>A c.(979-981)ggG>ggA p.G327G CDH9_uc010iug.3_Silent_p.G327G NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 327 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CAGTTATAATCCCTTCCTGTG 0.408000 82 102 0 0 0.003610 0 0 PROKR1 10887 broad.mit.edu 37 2 68882139 68882139 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:68882139G>A uc010yqj.2 + 1 773 c.613G>A c.(613-615)Gtc>Atc p.V205I PROKR1_uc002ses.3_Non-coding_Transcript NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN Homo sapiens prokineticin receptor 1 (PROKR1), mRNA. 205 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CACCGAGACGGTCCTCGTCAT 0.547000 77 68 0 0 0.003610 0 0 PPP4R4 57718 broad.mit.edu 37 14 94731763 94731763 + Missense_Mutation SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:94731763A>G uc001ycs.1 + 20 2391 c.2237A>G c.(2236-2238)aAc>aGc p.N746S NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 746 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CTGCCCAAGAACATCCCCATT 0.348000 39 27 0 0 0.004878 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1953599 1953599 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:1953599G>A uc021qsx.1 - 24 2670 c.2439C>T c.(2437-2439)ttC>ttT p.F813F CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.F677F|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. 813 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) GGTTGAAGACGAAGCTGCCAG 0.642000 26 18 0 0 0.006122 0 0 ARPP21 10777 broad.mit.edu 37 3 35763126 35763126 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:35763126C>T uc011axy.2 + 11 1135 c.923C>T c.(922-924)tCt>tTt p.S308F ARPP21_uc003cga.3_Missense_Mutation_p.S288F|ARPP21_uc003cgb.3_Missense_Mutation_p.S342F|ARPP21_uc003cgf.3_Missense_Mutation_p.S143F|ARPP21_uc003cgg.3_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 342 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GGGAGAACATCTGGGAGTCGA 0.527000 3 14 0 0 0.004990 0 0 PRDM10 56980 broad.mit.edu 37 11 129817060 129817060 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:129817060G>A uc001qfm.3 - 4 732 c.500C>T c.(499-501)cCc>cTc p.P167L PRDM10_uc001qfj.3_Missense_Mutation_p.P81L|PRDM10_uc001qfk.3_Missense_Mutation_p.P81L|PRDM10_uc001qfl.3_Missense_Mutation_p.P81L|PRDM10_uc010sbx.2_Missense_Mutation_p.P81L|PRDM10_uc001qfn.3_Missense_Mutation_p.P167L|PRDM10_uc009zct.1_Missense_Mutation_p.P199L NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA. 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TGGGTCGAAGGGCCGGGGCGG 0.577000 78 19 0 0 0.003954 0 0 FER1L6 654463 broad.mit.edu 37 8 124982334 124982334 + Silent SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:124982334C>A uc003yqw.3 + 5 650 c.444C>A c.(442-444)atC>atA p.I148I NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 148 C2 1. 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) TCATCAAAATCTCCGTAAGTA 0.443000 53 24 3.73148e-12 4.79892e-12 0.007291 1 0 ABCC9 10060 broad.mit.edu 37 12 22013982 22013982 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:22013982C>T uc001rfh.3 - 18 2367 c.2347G>A c.(2347-2349)Gct>Act p.A783T ABCC9_uc001rfi.1_Missense_Mutation_p.A783T NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 783 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 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) TCTGTGACAGCTTTGTACCTT 0.328000 64 15 0 0 0.002450 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19127075 19127075 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:19127075G>A uc002dfu.4 + 0 1822 c.1292G>A c.(1291-1293)gGa>gAa p.G431E ITPRIPL2_uc002dft.3_Missense_Mutation_p.G127E NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA. 431 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 GAGCACCTGGGAAGGTGTTTG 0.642000 132 109 0 0 0.003610 0 0 CDH18 1016 broad.mit.edu 37 5 19473751 19473751 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:19473751C>T uc003jgd.3 - 12 2491 c.1957G>A c.(1957-1959)Gag>Aag p.E653K CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E653K|CDH18_uc021xwu.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 653 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) ACCACGTTCTCCCGTACATCC 0.478000 133 164 0 0 0.003610 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935686 151935686 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:151935686C>T uc022chl.1 - 0 481 c.481G>A c.(481-483)Gtc>Atc p.V161I MAGEA3_uc004fgp.3_Missense_Mutation_p.V161I NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 161 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) ATGCCAAAGACCAGCTGCAAG 0.542000 3 63 0 0 0.003610 0 0 TMEM59L 25789 broad.mit.edu 37 19 18727819 18727819 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:18727819A>T uc010ebu.1 + 4 658 c.571A>T c.(571-573)Ata>Tta p.I191L TMEM59L_uc002njy.4_Missense_Mutation_p.I191L NM_012109 NP_036241 Q9UK28 TM59L_HUMAN Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA. 191 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GACTCAGCCCATAGTGGAGAG 0.662000 42 85 0 0 0.003610 0 0 IL37 27178 broad.mit.edu 37 2 113675337 113675337 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:113675337C>T uc002tij.3 + 3 433 c.391C>T c.(391-393)Cca>Tca p.P131S IL37_uc002tim.3_Missense_Mutation_p.P70S|IL37_uc002tik.3_Missense_Mutation_p.P110S|IL37_uc002til.3_Missense_Mutation_p.P91S|IL37_uc002tin.3_Missense_Mutation_p.P105S NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 131 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ACAAAGTCATCCATCCCTTCA 0.507000 79 64 0 0 0.003610 0 0 BSN 8927 broad.mit.edu 37 3 49690924 49690924 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:49690924C>T uc003cxe.4 + 4 4049 c.3935C>T c.(3934-3936)aCc>aTc p.T1312I NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1312 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) ACCCCTGGTACCAGTCCCACC 0.552000 10 48 0 0 0.003610 0 0 MMP1 4312 broad.mit.edu 37 11 102666008 102666008 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:102666008G>A uc001phi.2 - 5 939 c.796C>T c.(796-798)Cct>Tct p.P266S LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.P200S NM_002421 NP_001139410 P03956 MMP1_HUMAN Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA. 266 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GGCTGGACAGGATTTTGGGAA 0.403000 3 13 0 0 0.002450 0 0 SMEK2 57223 broad.mit.edu 37 2 55804480 55804480 + Missense_Mutation SNP C A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:55804480C>A uc002rzc.3 - 10 2269 c.1577G>T c.(1576-1578)gGa>gTa p.G526V SMEK2_uc002rzb.3_Missense_Mutation_p.G494V|SMEK2_uc002rzd.3_Missense_Mutation_p.G494V|SMEK2_uc002rza.3_Missense_Mutation_p.G370V NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 526 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTTGTTTGATCCAACtatatt 0.244000 24 23 2.70639e-06 3.44688e-06 0.002299 1 0 OR4K17 390436 broad.mit.edu 37 14 20586318 20586318 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:20586318G>A uc001vwo.1 + 0 753 c.753G>A c.(751-753)ctG>ctA p.L251L NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CCTACAGTCTGATCCTCATAA 0.423000 63 58 0 0 0.003610 0 0 XYLT1 64131 broad.mit.edu 37 16 17211549 17211549 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr16:17211549G>A uc002dfa.3 - 10 2596 c.2511C>T c.(2509-2511)ttC>ttT p.F837F NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 837 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCGCAACGAGGAATTTGGTCT 0.532000 55 36 0 0 0.004878 0 0 PLCB4 5332 broad.mit.edu 37 20 9351894 9351894 + Missense_Mutation SNP A T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr20:9351894A>T uc021wam.1 + 6 552 c.537A>T c.(535-537)gaA>gaT p.E179D PLCB4_uc010gbw.1_Missense_Mutation_p.E179D|PLCB4_uc010gbx.3_Missense_Mutation_p.E179D|PLCB4_uc021wal.1_Missense_Mutation_p.E179D|PLCB4_uc002wnh.3_Missense_Mutation_p.E26D NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 179 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 GAAAAACAGAAAAGGTGATCT 0.328000 63 66 0 0 0.003610 0 0 DSG3 1830 broad.mit.edu 37 18 29041250 29041250 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:29041250G>A uc002kws.3 + 7 983 c.874G>A c.(874-876)Gat>Aat p.D292N NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 292 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCAAGTAACAGATTTGGATGA 0.338000 34 18 0 0 0.007413 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037767 48037767 + Missense_Mutation SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:48037767T>A uc003gxw.3 + 5 877 c.811T>A c.(811-813)Tac>Aac p.Y271N NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA. 271 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 GAAGCCAGTTTACAAACATCC 0.413000 30 10 0 0 0.006214 0 0 ATP8B2 57198 broad.mit.edu 37 1 154321007 154321007 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:154321007C>T uc001fex.3 + 26 3386 c.3386C>T c.(3385-3387)tCc>tTc p.S1129F NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 1115 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) CCGGATCTCTCCGACACGGTG 0.617000 37 43 0 0 0.003610 0 0 SVEP1 79987 broad.mit.edu 37 9 113163243 113163243 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr9:113163243G>A uc010mtz.3 - 39 10050 c.9713C>T c.(9712-9714)cCa>cTa p.P3238L SVEP1_uc010mty.3_Missense_Mutation_p.P1164L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 3238 Sushi 30. 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 ACAAGAAACTGGACTGCAAGA 0.383000 4 29 0 0 0.002836 0 0 UNC13C 440279 broad.mit.edu 37 15 54306605 54306605 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:54306605C>T uc021smr.1 + 0 1505 c.1505C>T c.(1504-1506)tCa>tTa p.S502L UNC13C_uc021sms.1_Missense_Mutation_p.S502L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 502 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) AGCAGAATTTCAAATAAATCA 0.393000 34 36 0 0 0.002836 0 0 SLC30A1 7779 broad.mit.edu 37 1 211749124 211749124 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:211749124A>C uc001hio.1 - 1 1275 c.1130T>G c.(1129-1131)cTt>cGt p.L377R NM_021194 NP_067017 Q9Y6M5 ZNT1_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA. 377 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import T-tubule|integral to membrane calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) GCTTCCAGCAAGTTGCCAAAC 0.353000 7 73 0 0 0.003610 0 0 XIRP1 165904 broad.mit.edu 37 3 39230811 39230811 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:39230811G>A uc003cjk.2 - 1 355 c.126C>T c.(124-126)ttC>ttT p.F42F XIRP1_uc003cji.3_Silent_p.F42F|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.F42F NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 42 Interaction with VASP. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGAACTTGGAGAAGGATTCCT 0.642000 2 32 0 0 0.004289 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645816 20645816 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:20645816C>T uc001ytg.3 - 19 2969 c.2260G>A c.(2260-2262)Ggc>Agc p.G754S HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G754S|HERC2P3_uc010tyy.2_Missense_Mutation_p.G754S Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. p.C753C(1) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTGAGGGTGCCGCACACCTGC 0.627000 12 7 0 0 0.001984 0 0 SLC4A8 9498 broad.mit.edu 37 12 51855005 51855005 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:51855005T>C uc001rys.1 + 8 1209 c.1031T>C c.(1030-1032)tTg>tCg p.L344S SLC4A8_uc010sni.2_Missense_Mutation_p.L291S|SLC4A8_uc001rym.3_Missense_Mutation_p.L291S|SLC4A8_uc001ryn.3_Missense_Mutation_p.L291S|SLC4A8_uc001ryo.2_Missense_Mutation_p.L291S|SLC4A8_uc001ryp.1_Missense_Mutation_p.L291S|SLC4A8_uc010snj.2_Missense_Mutation_p.L371S|SLC4A8_uc001ryq.4_Missense_Mutation_p.L344S|SLC4A8_uc001ryr.3_Missense_Mutation_p.L344S|SLC4A8_uc010snk.2_Missense_Mutation_p.L291S NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 344 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TTTATCTTATTGGGTCCAGTA 0.393000 450 27 0 0 0.001786 0 0 ILDR1 286676 broad.mit.edu 37 3 121712795 121712795 + Silent SNP G A A rs149548365 byFrequency TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:121712795G>A uc003ees.3 - 6 1004 c.801C>T c.(799-801)ctC>ctT p.L267L ILDR1_uc003eeq.3_Silent_p.L235L|ILDR1_uc003eer.3_Silent_p.L223L|ILDR1_uc010hrg.3_Silent_p.L178L NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 267 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCATCTGCGGGAGGCTGGACG 0.512000 30 31 0 0 0.001786 0 0 FAT3 120114 broad.mit.edu 37 11 92087396 92087396 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:92087396G>A uc001pdj.4 + 0 2135 c.2118G>A c.(2116-2118)ctG>ctA p.L706L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 706 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) ATGGGAAACTGAATCTGGAAG 0.403000 TCGA Ovarian(4;0.039) 185 282 0 0 0.003610 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958854 50958854 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:50958854G>A uc002psf.2 + 19 2342 c.2291G>A c.(2290-2292)gGg>gAg p.G764E NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 764 Fibronectin type-III 2. 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) AACAGGATCGGGGCAGGTGGC 0.612000 51 19 0 0 0.008871 0 0 ZNF496 84838 broad.mit.edu 37 1 247473035 247473035 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr1:247473035G>A uc009xgv.3 - 5 1003 c.966C>T c.(964-966)ctC>ctT p.L322L ZNF496_uc001ico.3_Silent_p.L286L|ZNF496_uc001icq.1_Silent_p.L61L NM_032752 NP_116141 Q96IT1 ZN496_HUMAN Homo sapiens zinc finger protein 496 (ZNF496), mRNA. 286 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CTTTGCCCTGGAGATCCTGCA 0.557000 43 26 0 0 0.006320 0 0 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:122812709C>T uc001ucg.2 - 17 3189 c.3034_splice c.e17-1 p.E1012_splice CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice NM_001247997 NP_001234926 P30622 CLIP1_HUMAN Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA. 1012 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding p.E1001K(1) NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATTTTCTTTTCCTGCAGAGAC 0.493000 136 17 0 0 0.002836 0 0 CRX 1406 broad.mit.edu 37 19 48342936 48342936 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:48342936C>T uc002phq.4 + 3 816 c.612C>T c.(610-612)tcC>tcT p.S204S NM_000554 NP_000545 O43186 CRX_HUMAN Homo sapiens cone-rod homeobox (CRX), mRNA. 204 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCTGCTCTTCCCCCTCCGCCT 0.677000 33 69 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179665255 179665255 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179665255G>A uc021vsy.1 - 3 675 c.450C>T c.(448-450)ttC>ttT p.F150F TTN_uc021vsz.1_Silent_p.F150F|TTN_uc021vta.1_Silent_p.F150F|TTN_uc021vtb.1_Silent_p.F150F|TTN_uc002unb.2_Silent_p.F150F|TTN_uc002und.3_Silent_p.F150F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 150 Ig-like 2. 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) GTGAAATTTGGAAATCAAGGG 0.488000 84 89 0 0 0.003610 0 0 PUS7L 83448 broad.mit.edu 37 12 44148738 44148738 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:44148738C>T uc001rns.4 - 1 391 c.311G>A c.(310-312)gGt>gAt p.G104D PUS7L_uc001rnq.4_Missense_Mutation_p.G104D|PUS7L_uc001rnr.4_Missense_Mutation_p.G104D|PUS7L_uc009zkb.3_Intron NM_031292 NP_112582 Q9H0K6 PUS7L_HUMAN Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA. 104 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CTTTTCTGAACCAGACTGATG 0.353000 549 23 0 0 0.002780 0 0 PLGLA 285189 broad.mit.edu 37 2 107007411 107007411 + RNA SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:107007411G>A uc002tdp.3 + 2 c.260G>A Homo sapiens plasminogen-like A (PLGLA), non-coding RNA. ACAGAGGGACGATGTCCAAAA 0.448000 30 20 0 0 0.003954 0 0 NETO1 81832 broad.mit.edu 37 18 70526078 70526078 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr18:70526078C>T uc002lkw.3 - 3 736 c.452G>A c.(451-453)cGa>cAa p.R151Q NETO1_uc002lky.2_Missense_Mutation_p.R151Q|NETO1_uc002lkz.3_Missense_Mutation_p.R150Q NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 151 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GAAATTGTATCGAGCTGAAAA 0.323000 2 48 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13777440 13777440 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:13777440C>T uc003jfd.2 - 53 9018 c.8976G>A c.(8974-8976)atG>atA p.M2992I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2992 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) TCAGATCTTCCATCAGATTTG 0.328000 Kartagener syndrome 22 40 0 0 0.003610 0 0 MAP3K2 10746 broad.mit.edu 37 2 128079655 128079655 + Missense_Mutation SNP A C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:128079655A>C uc002toj.2 - 10 1112 c.1012T>G c.(1012-1014)Ttg>Gtg p.L338V NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA. 338 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) ATTACGGTCAAAGTAGGATTG 0.378000 22 15 0 0 0.003163 0 0 NUP85 79902 broad.mit.edu 37 17 73222188 73222188 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:73222188C>T uc002jng.1 + 10 1290 c.1030C>T c.(1030-1032)Ccc>Tcc p.P344S NUP85_uc010wrv.1_Missense_Mutation_p.P298S|NUP85_uc002jnh.1_5'Flank NM_024844 NP_079120 Q9BW27 NUP85_HUMAN Homo sapiens nucleoporin 85kDa (NUP85), mRNA. 344 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CAGCCCAGAACCCCTGGACAA 0.527000 57 44 0 0 0.003610 0 0 SUPT3H 8464 broad.mit.edu 37 6 44929497 44929497 + Silent SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:44929497T>C uc003oxp.3 - 6 739 c.573A>G c.(571-573)ttA>ttG p.L191L SUPT3H_uc003oxn.1_Silent_p.L191L|SUPT3H_uc003oxo.3_Silent_p.L202L|SUPT3H_uc011dvv.2_Silent_p.L39L|SUPT3H_uc011dvw.2_Silent_p.L105L NM_003599 NP_003590 O75486 SUPT3_HUMAN Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA. 273 histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 TACAGAAACTTAATTGTCGAC 0.279000 66 102 0 0 0.003610 0 0 COL22A1 169044 broad.mit.edu 37 8 139618637 139618637 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:139618637G>A uc003yvd.3 - 57 4538 c.4091C>T c.(4090-4092)cCc>cTc p.P1364L COL22A1_uc011ljo.2_Missense_Mutation_p.P644L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1364 Collagen-like 13.|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) AGGCCCACGGGGACCCAGGAA 0.552000 HNSCC(7;0.00092) 27 5 0 0 0.000602 0 0 OR5K3 403277 broad.mit.edu 37 3 98109668 98109668 + Silent SNP A G G TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:98109668A>G uc011bgw.2 + 0 159 c.159A>G c.(157-159)caA>caG p.Q53Q NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 ATATAGAGCAACGTCTTCACA 0.408000 126 103 0 0 0.003610 0 0 OR5M11 219487 broad.mit.edu 37 11 56310122 56310122 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:56310122G>A uc010rjl.2 - 0 612 c.612C>T c.(610-612)ttC>ttT p.F204F OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TGGAGAGGTTGAAGCCAGCAG 0.493000 40 17 0 0 0.006122 0 0 FNDC3B 64778 broad.mit.edu 37 3 172061988 172061988 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:172061988C>T uc003fhy.3 + 18 2362 c.2190C>T c.(2188-2190)gtC>gtT p.V730V FNDC3B_uc003fhz.4_Silent_p.V730V NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 730 Fibronectin type-III 5. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGTGCACCGTCGGCAACCTGC 0.567000 100 80 0 0 0.003610 0 0 PPP4R4 57718 broad.mit.edu 37 14 94697046 94697046 + Silent SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:94697046C>T uc001ycs.1 + 3 571 c.417C>T c.(415-417)ctC>ctT p.L139L NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 139 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AAGTCATTCTCCTGCATCTGG 0.418000 70 64 0 0 0.003610 0 0 GLRB 2743 broad.mit.edu 37 4 157999217 157999217 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:157999217C>T uc003ipj.2 + 1 243 c.41C>T c.(40-42)tCc>tTc p.S14F GLRB_uc021xtp.1_Missense_Mutation_p.S14F|GLRB_uc021xtq.1_Missense_Mutation_p.S14F NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 14 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) ATTTTAATTTCCTTGTGGGTG 0.338000 15 5 0 0 0.000602 0 0 COL6A6 131873 broad.mit.edu 37 3 130318651 130318651 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr3:130318651G>A uc010htl.3 + 18 4681 c.4650G>A c.(4648-4650)aaG>aaA p.K1550K COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1550 Triple-helical region. 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 CCAGAAGAAAGACAGTAAGAG 0.542000 28 28 0 0 0.005443 0 0 GPR116 221395 broad.mit.edu 37 6 46874491 46874491 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr6:46874491G>A uc003oyo.3 - 1 298 c.9C>T c.(7-9)tcC>tcT p.S3S GPR116_uc003oyp.3_Silent_p.S3S|GPR116_uc003oyq.3_Silent_p.S3S|GPR116_uc003oyr.2_Silent_p.S3S|BC042990_uc003oys.3_Intron NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) TTCTCCTTGGGGATTTCATGT 0.368000 86 41 0 0 0.008740 0 0 MYEF2 50804 broad.mit.edu 37 15 48435142 48435143 + Missense_Mutation DNP CC TT TT TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:48435142_48435143CC>TT uc001zwi.4 - 16 1889_1890 c.1765_1766GG>AA c.(1765-1767)ggc>AAc p.G589N MYEF2_uc001zwg.4_Missense_Mutation_p.G127N|MYEF2_uc001zwh.4_Missense_Mutation_p.G177N|MYEF2_uc001zwj.4_Missense_Mutation_p.G565N NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN Homo sapiens myelin expression factor 2 (MYEF2), mRNA. 589 RRM 3. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|RNA binding|nucleotide binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) AATTTCTCTGCCACTGATTTTT 0.391000 60 38 0 0 0.004672 0 0 LATS2 26524 broad.mit.edu 37 13 21555718 21555718 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:21555718C>T uc009zzs.3 - 5 2917 c.2552G>A c.(2551-2553)gGg>gAg p.G851E LATS2_uc001unr.4_Missense_Mutation_p.G851E NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 851 Protein kinase. G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CAGCCTGTCCCCACACCGACA 0.582000 33 14 0 0 0.001855 0 0 TBK1 29110 broad.mit.edu 37 12 64858153 64858153 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:64858153C>T uc001ssc.2 + 3 427 c.268C>T c.(268-270)Cca>Tca p.P90S NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN Homo sapiens TANK-binding kinase 1 (TBK1), mRNA. 90 Protein kinase. I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) GGAATTTTGTCCATGTGGGAG 0.308000 25 32 0 0 0.003271 0 0 POTEG 404785 broad.mit.edu 37 14 19553780 19553780 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr14:19553780G>A uc001vuz.1 + 0 416 c.364G>A c.(364-366)Gac>Aac p.D122N POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 122 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CCCTTGGGGAGACTACGACGA 0.592000 723 41 0 0 0.003610 0 0 SSTR2 6752 broad.mit.edu 37 17 71166320 71166320 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:71166320C>T uc002jje.3 + 1 1222 c.862C>T c.(862-864)Cca>Tca p.P288S SSTR2_uc021ucm.1_Missense_Mutation_p.P288S NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 288 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) CAGCCCCACCCCAGCCCTTAA 0.502000 58 50 0 0 0.003610 0 0 PKNOX2 63876 broad.mit.edu 37 11 125267785 125267785 + Nonsense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:125267785C>T uc001qbu.3 + 6 729 c.415C>T c.(415-417)Cag>Tag p.Q139* PKNOX2_uc010saz.2_Nonsense_Mutation_p.Q110*|PKNOX2_uc010sba.2_Nonsense_Mutation_p.Q110*|PKNOX2_uc010sbb.2_Nonsense_Mutation_p.Q75* NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA. 139 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GAAGGCAATCCAGGTCCTGAG 0.557000 5 18 0 0 0.001523 0 0 DMD 1756 broad.mit.edu 37 X 31462745 31462745 + Splice_Site SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chrX:31462745C>T uc004dda.1 - 60 9182 c.8938_splice c.e60-1 p.A2980_splice DMD_uc004dcq.1_Splice_Site_p.A251_splice|DMD_uc004dcr.1_Splice_Site_p.A520_splice|DMD_uc004dcs.1_Splice_Site_p.A520_splice|DMD_uc004dct.1_Splice_Site_p.A520_splice|DMD_uc004dcu.1_Splice_Site_p.A520_splice|DMD_uc004dcv.1_Splice_Site_p.A520_splice|DMD_uc004dcw.2_Splice_Site_p.A1636_splice|DMD_uc004dcx.2_Splice_Site_p.A1639_splice|DMD_uc004dcz.2_Splice_Site_p.A2857_splice|DMD_uc004dcy.1_Splice_Site_p.A2976_splice|DMD_uc004ddb.1_Splice_Site_p.A2972_splice NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2980 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCGAAGTGCCTGTGTGCAAT 0.448000 6 43 0 0 0.003610 0 0 ABRA 137735 broad.mit.edu 37 8 107782177 107782177 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr8:107782177G>A uc003ymm.4 - 0 296 c.242C>T c.(241-243)tCg>tTg p.S81L NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN Homo sapiens actin-binding Rho activating protein (ABRA), mRNA. 81 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding p.S81S(1) breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GCGGGGTGGCGACTTTGGGGC 0.557000 31 78 0 0 0.003610 0 0 CARD11 84433 broad.mit.edu 37 7 2976723 2976723 + Missense_Mutation SNP T C C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:2976723T>C uc003smv.3 - 8 1623 c.1289A>G c.(1288-1290)aAc>aGc p.N430S NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 430 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 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) GCTCTCCAGGTTGACGATGCA 0.622000 Mis DLBCL 46 31 0 0 0.002445 0 0 TTN 7273 broad.mit.edu 37 2 179472789 179472789 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:179472789G>A uc021vsy.1 - 224 45246 c.45021C>T c.(45019-45021)atC>atT p.I15007I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I8702I|TTN_uc021vta.1_Silent_p.I8635I|TTN_uc021vtb.1_Silent_p.I8510I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15934 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) TGACTCTTGGGATAGGTGGCC 0.423000 17 12 0 0 0.000978 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113522189 113522189 + Missense_Mutation SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr7:113522189G>A uc010ljy.1 - 2 902 c.871C>T c.(871-873)Cat>Tat p.H291Y NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 291 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTGTCCTCATGAGAACAAATG 0.308000 56 22 0 0 0.002299 0 0 RXFP1 59350 broad.mit.edu 37 4 159533473 159533473 + Silent SNP T A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr4:159533473T>A uc003ipz.3 + 7 902 c.639T>A c.(637-639)atT>atA p.I213I RXFP1_uc010iqj.2_Silent_p.I42I|RXFP1_uc010iqk.3_Silent_p.I81I|RXFP1_uc011cja.2_Silent_p.I132I|RXFP1_uc010iqo.3_Silent_p.I213I|RXFP1_uc011cjb.2_Silent_p.I159I|RXFP1_uc011cjc.2_Silent_p.I132I|RXFP1_uc011cjd.2_Silent_p.I132I|RXFP1_uc010iql.3_Silent_p.I81I|RXFP1_uc011cje.2_Silent_p.I240I|RXFP1_uc010iqm.3_Silent_p.I180I|RXFP1_uc011cjf.2_Silent_p.I83I|RXFP1_uc010iqn.3_Silent_p.I159I NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 213 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCAGTCGAATTTCCCCACCAA 0.279000 10 14 0 0 0.004007 0 0 FAM20A 54757 broad.mit.edu 37 17 66538260 66538260 + Silent SNP C T T rs150508189 byFrequency TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr17:66538260C>T uc002jho.3 - 6 1263 c.975G>A c.(973-975)acG>acA p.T325T FAM20A_uc010wqp.2_Silent_p.T187T|FAM20A_uc002jhn.3_Missense_Mutation_p.R28Q NM_017565 NP_001230675 Q96MK3 FA20A_HUMAN Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA. 325 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) CAGCATACTCCGTCTTGCACA 0.607000 48 12 0 0 0.000978 0 0 GHR 2690 broad.mit.edu 37 5 42719270 42719270 + Missense_Mutation SNP C T T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:42719270C>T uc021xxv.1 + 9 1819 c.1682C>T c.(1681-1683)tCa>tTa p.S561L GHR_uc003jmt.3_Missense_Mutation_p.S554L|GHR_uc003jmu.3_Missense_Mutation_p.S554L|GHR_uc003jmv.2_Missense_Mutation_p.S554L|GHR_uc021xxw.1_Missense_Mutation_p.S554L|GHR_uc021xxx.1_Missense_Mutation_p.S554L|GHR_uc021xxy.1_Missense_Mutation_p.S554L|GHR_uc021xxz.1_Missense_Mutation_p.S554L|GHR_uc021xya.1_Missense_Mutation_p.S554L|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.S367L|GHR_uc021xyd.1_Missense_Mutation_p.S532L NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 554 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAGGTTGAATCACACATACAG 0.488000 35 16 0 0 0.004990 0 0 NCAM1 4684 broad.mit.edu 37 11 113102986 113102986 + Silent SNP G A A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:113102986G>A uc021qqp.1 + 11 1779 c.1407G>A c.(1405-1407)acG>acA p.T469T NCAM1_uc001pnp.3_Silent_p.T433T|NCAM1_uc021qqo.1_Silent_p.T433T|NCAM1_uc001pnq.3_Silent_p.T443T|NCAM1_uc001pnr.3_Silent_p.T433T NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 445 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane p.P468P(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCAGTGCCACGATCTCATGGT 0.547000 4 21 0 0 0.001523 0 0 APOB 338 broad.mit.edu 37 2 21235311 21235312 + Frame_Shift_Ins INS - T T rs121918389 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr2:21235311_21235312insT uc002red.3 - 25 4556_4557 c.4428_4429insA c.(4426-4431)aaacagfs p.K1476fs NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1476 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) AACAAATGCTGTTTCTTTTTGG 0.421 --- 817 --- --- 10 --- SREK1IP1 285672 broad.mit.edu 37 5 64023941 64023941 + Frame_Shift_Del DEL T - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr5:64023941delT uc003jtk.3 - 3 423 c.271delA c.(271-273)aggfs p.R91fs NM_173829 NP_776190 Q8N9Q2 SR1IP_HUMAN Homo sapiens SREK1-interacting protein 1 (SREK1IP1), mRNA. 91 Lys-rich. RNA splicing|mRNA processing nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 TACCttttccttttttttttc 0.264 --- 3 --- --- 3 --- AX747192 0 broad.mit.edu 37 11 63997567 63997567 + Frame_Shift_Del DEL A - - rs11364788 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr11:63997567delA uc001nyr.1 - 0 1194 c.762delT c.(760-762)tttfs p.F254fs DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833. GTGACTTGGGAAAAAAAAAAA 0.498 --- 5 --- --- 6 --- DDX12P 440081 broad.mit.edu 37 12 9573309 9573310 + RNA INS - CCC CCC rs66804813 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:9573309_9573310insCCC uc021qut.1 - 10 c.2088_2089insGGG DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. gagggagggagCCCCCATGGAG 0.579 --- 23 --- --- 10 --- KRT72 140807 broad.mit.edu 37 12 52979779 52979779 + Frame_Shift_Del DEL T - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:52979779delT uc001sar.2 - 8 1609 c.1523delA c.(1522-1524)aagfs p.K508fs KRT72_uc001saq.2_Frame_Shift_Del_p.K508fs|KRT72_uc010sns.1_Frame_Shift_Del_p.K466fs|KRT72_uc010snt.1_Frame_Shift_Del_p.K320fs NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 508 Tail. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TCTGGAGGCCTTTTTGGTGGC 0.562 --- 2218 --- --- 9 --- ZNF385A 25946 broad.mit.edu 37 12 54764789 54764789 + Frame_Shift_Del DEL T - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:54764789delT uc001sfy.3 - 5 811 c.756delA c.(754-756)ccafs p.P252fs ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Frame_Shift_Del_p.P232fs|ZNF385A_uc010sov.1_Frame_Shift_Del_p.P151fs|ZNF385A_uc001sfx.1_Frame_Shift_Del_p.P232fs|ZNF385A_uc001sfz.3_Frame_Shift_Del_p.P171fs NM_001130967 NP_001124439 Q96PM9 Z385A_HUMAN Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA. 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CAGGAGCCTCTGGTTCCCCCG 0.602 --- 165 --- --- 58 --- NCOR2 9612 broad.mit.edu 37 12 124824721 124824722 + In_Frame_Ins INS - GCCGCTGCT GCCGCTGCT rs72177573 by1000genomes TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr12:124824721_124824722insGCCGCTGCT uc021rga.1 - 36 5655_5656 c.5538_5539insAGCAGCGGC c.(5536-5541)insAGCAGCGGC p.1846_1847insSSG NCOR2_uc021rgb.1_In_Frame_Ins_p.1830_1831insSSG|NCOR2_uc010tbb.2_In_Frame_Ins_p.1839_1840insSSG|NCOR2_uc010tbc.2_In_Frame_Ins_p.1829_1830insSSG|NCOR2_uc021rgc.1_In_Frame_Ins_p.1829_1830insSSG|NCOR2_uc010tba.2_In_Frame_Ins_p.1847_1848insSSG|NCOR2_uc010tax.2_5'UTR NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1850 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) cccccacccccgccgctgctgc 0.713 --- 36 --- --- 12 --- POU4F1 5457 broad.mit.edu 37 13 79176484 79176486 + In_Frame_Del DEL TGG - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:79176484_79176486delTGG uc001vkv.3 - 1 558_560 c.324_326delCCA c.(322-327)caccag>cag p.H108del BX647243_uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA. 108 Poly-His. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H108delH(2) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TTCGAGCGCCtggtggtggtggt 0.729 --- 4 --- --- 2 --- RNF219 79596 broad.mit.edu 37 13 79213018 79213018 + Frame_Shift_Del DEL T - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr13:79213018delT uc001vkw.1 - 3 548 c.489delA c.(487-489)aaafs p.K163fs RNF219_uc010afb.1_5'UTR NM_024546 NP_078822 Q5W0B1 RN219_HUMAN Homo sapiens ring finger protein 219 (RNF219), mRNA. 163 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) CTGTTCTGAGTTTTTTCTTCC 0.338 --- 48 --- --- 86 --- DNM1P46 196968 broad.mit.edu 37 15 100340123 100340125 + Splice_Site DEL AGA - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr15:100340123_100340125delAGA uc010bow.2 - 4 c.699_splice c.e4+1 DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript|DQ571121_uc021sxm.1_5'Flank|DQ590616_uc002bvp.3_5'Flank|DNM1P46_uc021sxn.1_Non-coding_Transcript|DNM1P46_uc010urz.1_Non-coding_Transcript|DQ595494_uc021sxo.1_Non-coding_Transcript|DQ575741_uc002bvt.1_5'Flank Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. AGCAGCTCCGAGAAGATGAACTC 0.611 --- 22 --- --- 7 --- ZNF628 89887 broad.mit.edu 37 19 55993019 55993019 + Frame_Shift_Del DEL C - - TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr19:55993019delC uc021vbv.1 + 0 447 c.447delC c.(445-447)tgcfs p.C149fs ZNF628_uc002qld.2_Frame_Shift_Del_p.C149fs NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN Homo sapiens zinc finger protein 628 (ZNF628), mRNA. 149 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) GCCCGGACTGCCCCAAGGCCT 0.667 --- 29 --- --- 14 --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - GGGGCGCAGCAGCTG GGGGCGCAGCAGCTG rs71199613 TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c 1915655b-9581-403c-90ca-e599b8265e2f g.chr21:46012219_46012220insGGGGCGCAGCAGCTG uc002zfm.3 - 0 167_168 c.146_147insCAGCTGCTGCGCCCC c.(145-147)ccg>ccCAGCTGCTGCGCCCCg p.49_49P>PSCCAP TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA. 49 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 --- 33 --- --- 8 ---