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 BTBD11 121551 broad.mit.edu 37 12 107914403 107914403 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:107914403C>T uc001tmk.1 + 1 1796 c.1275C>T c.(1273-1275)atC>atT p.I425I BTBD11_uc009zut.1_Silent_p.I425I|BTBD11_uc001tmj.3_Silent_p.I425I NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 425 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TAGGCAGCATCGCCGAATTGA 0.557000 7 42 0 0 0.008740 0 0 OR52H1 390067 broad.mit.edu 37 11 5566539 5566539 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:5566539G>A uc010qzh.2 - 0 215 c.215C>T c.(214-216)tCc>tTc p.S72F HBG1_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72S(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCAGCATGGAGAGAAAGAA 0.478000 17 24 0 0 0.003330 0 0 GTPBP8 29083 broad.mit.edu 37 3 112711873 112711873 + Splice_Site SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:112711873G>T uc003dzn.3 + 2 384 c.337_splice c.e2-1 p.V113_splice GTPBP8_uc003dzp.2_Intron|GTPBP8_uc003dzo.3_Intron NM_014170 NP_054889 Q8N3Z3 GTPB8_HUMAN Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA. 113 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 CTTGTATAAGGTGTGTTTTAT 0.338000 41 19 2.4624e-09 2.91961e-09 0.008871 1 0 COL14A1 7373 broad.mit.edu 37 8 121282290 121282290 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:121282290G>A uc003yox.3 + 25 3355 c.3090G>A c.(3088-3090)aaG>aaA p.K1030K COL14A1_uc003yoz.3_5'UTR NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1030 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGGCGGCCAAGGCTGACCTGG 0.403000 39 33 0 0 0.003755 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105316 75105316 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:75105316G>A uc002ayt.1 + 0 123 c.121G>A c.(121-123)Ggc>Agc p.G41S LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Missense_Mutation_p.G41S NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 41 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAGCTTCAAAGGCCCAAGGCT 0.607000 56 37 0 0 0.003755 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254047 39254047 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:39254047G>A uc010wfo.2 - 0 329 c.290C>T c.(289-291)tCc>tTc p.S97F NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA. 97 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 gcagcagctggagatgcagca 0.672000 4 17 0 0 0.004007 0 0 FNDC7 163479 broad.mit.edu 37 1 109268397 109268397 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:109268397G>A uc001dvx.3 + 5 882 c.882G>A c.(880-882)acG>acA p.T294T FNDC7_uc010ova.2_Silent_p.T61T NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 295 Fibronectin type-III 4. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GAAGAGTGACGATCCAAGAAG 0.453000 12 21 0 0 0.014323 0 0 CNTLN 54875 broad.mit.edu 37 9 17309068 17309068 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:17309068T>G uc003zmz.2 + 7 1185 c.1159T>G c.(1159-1161)Tta>Gta p.L387V CNTLN_uc003zmy.3_Missense_Mutation_p.L387V|CNTLN_uc010mio.3_Missense_Mutation_p.L66V NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA. 387 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) TTACAATGAGTTACATATTTG 0.303000 2 9 0 0 0.008291 0 0 ITGA1 3672 broad.mit.edu 37 5 52204848 52204848 + Missense_Mutation SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:52204848G>C uc003jou.3 + 12 1990 c.1576G>C c.(1576-1578)Gtg>Ctg p.V526L ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.V57L NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 526 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GCAAGGAAAAGTGTATGTGTA 0.363000 45 5 0 0 0.000602 0 0 C8orf58 541565 broad.mit.edu 37 8 22460140 22460140 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:22460140G>A uc003xce.3 + 5 1090 c.970G>A c.(970-972)Gat>Aat p.D324N C8orf58_uc011kzl.2_Missense_Mutation_p.D316N|C8orf58_uc003xcf.3_Intron|KIAA1967_uc003xch.3_5'Flank|KIAA1967_uc003xci.3_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA. 324 endometrium(1)|lung(1)|ovary(1)|skin(1) 4 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TGCCCCTCCTGATGGCTCTGA 0.612000 20 11 0 0 0.001855 0 0 KCNA1 3736 broad.mit.edu 37 12 5020559 5020559 + Silent SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:5020559T>G uc001qnh.3 + 1 1120 c.15T>G c.(13-15)tcT>tcG p.S5S KCNA1_uc021qts.1_Silent_p.S5S NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 5 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGGTGATGTCTGGGGAGAACG 0.736000 27 9 0 0 0.006214 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52810548 52810548 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:52810548C>A uc001cto.3 + 17 4220 c.4048C>A c.(4048-4050)Cac>Aac p.H1350N ZFYVE9_uc001ctp.3_Missense_Mutation_p.H1291N NM_004799 NP_004790 O95405 ZFYV9_HUMAN Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA. 1350 SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TCTCTGTCCTCACCTGAAACT 0.463000 21 73 3.58576e-35 4.32614e-35 0.014410 1 0 MUC16 94025 broad.mit.edu 37 19 9056795 9056795 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9056795G>A uc002mkp.3 - 2 30855 c.30651C>T c.(30649-30651)gcC>gcT p.A10217A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10219 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATACTGTGAGGCTGGAGGCC 0.468000 31 18 0 0 0.010504 0 0 IKZF2 22807 broad.mit.edu 37 2 213921707 213921707 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:213921707C>T uc002vem.3 - 3 425 c.256G>A c.(256-258)Gag>Aag p.E86K IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.E33K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E86K|IKZF2_uc002vel.3_Missense_Mutation_p.E33K|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Missense_Mutation_p.E86K|IKZF2_uc002ven.3_Missense_Mutation_p.E86K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E86K(2) 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) TCGCTGCTCTCAATTAGGGGT 0.522000 37 10 0 0 0.010729 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840274 128840274 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:128840274G>A uc009zcp.3 - 21 4792 c.4792C>T c.(4792-4794)Ccc>Tcc p.P1598S ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P557S|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1249S NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 1598 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CGTGAAATGGGAACAGAGCGA 0.542000 28 18 0 0 0.010504 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430899 37430899 + Silent SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:37430899T>G uc021ppc.1 + 6 1005 c.906T>G c.(904-906)ccT>ccG p.P302P ANKRD30A_uc001iza.1_Silent_p.P302P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 358 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGAAACACCTAGGGAAATTA 0.443000 32 14 0 0 0.003163 0 0 CPXM1 56265 broad.mit.edu 37 20 2778646 2778646 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:2778646C>T uc002wgu.3 - 4 723 c.649G>A c.(649-651)Gga>Aga p.G217R CPXM1_uc010gas.3_Missense_Mutation_p.G217R NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 217 F5/8 type C. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TTCCTACTTCCCCACCAGGTC 0.602000 35 13 0 0 0.002450 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762352 130762352 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:130762352C>T uc003qcb.3 + 1 3163 c.785C>T c.(784-786)tCc>tTc p.S262F TMEM200A_uc003qca.3_Missense_Mutation_p.S262F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S262F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S262F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S262F NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 262 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCACCTCCTTCCAAGACAACT 0.438000 3 55 0 0 0.014410 0 0 PTRH1 138428 broad.mit.edu 37 9 130477870 130477870 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:130477870T>G uc004bro.3 - 0 1369 c.49A>C c.(49-51)Atg>Ctg p.M17L PTRH1_uc004brm.3_Missense_Mutation_p.M17L|PTRH1_uc010mxm.3_Missense_Mutation_p.M30L|PTRH1_uc011mah.2_Missense_Mutation_p.M17L|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank NM_001002913 NP_001002913 Q86Y79 PTH_HUMAN Homo sapiens peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) (PTRH1), mRNA. 17 translation aminoacyl-tRNA hydrolase activity|protein binding NS(1) 1 CATCGGCTCATGGCTCTACTC 0.682000 26 6 0 0 0.001168 0 0 THSD7A 221981 broad.mit.edu 37 7 11418889 11418889 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:11418889C>T uc021zzo.1 - 25 4861 c.4609G>A c.(4609-4611)Gaa>Aaa p.E1537K THSD7A_uc021zzn.1_Missense_Mutation_p.E1535K|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Missense_Mutation_p.E41K NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 1537 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TACCCTTCTTCACAATGGCAT 0.443000 HNSCC(18;0.044) 26 38 0 0 0.007835 0 0 SCN1A 6323 broad.mit.edu 37 2 166930068 166930068 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:166930068G>A uc002udo.4 - 2 291 c.64C>T c.(64-66)Ctt>Ttt p.L22F SCN1A_uc010fpk.3_Missense_Mutation_p.L22F|SCN1A_uc021vsb.1_Missense_Mutation_p.L22F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 22 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATAGCCGCAAGAGATTCTCTG 0.423000 71 36 0 0 0.003755 0 0 EFHA1 221154 broad.mit.edu 37 13 22113825 22113825 + Nonsense_Mutation SNP T A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:22113825T>A uc001uof.3 - 2 429 c.361A>T c.(361-363)Aaa>Taa p.K121* NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA. 121 calcium ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2) 13 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) ACTGAAGTTTTACCTACAACA 0.343000 8 22 0 0 0.003954 0 0 KCNK2 3776 broad.mit.edu 37 1 215342659 215342659 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:215342659C>T uc001hkq.3 + 3 762 c.593C>T c.(592-594)aCc>aTc p.T198I KCNK2_uc001hko.3_Missense_Mutation_p.T194I|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.T183I NM_001017425 NP_001017425 O95069 KCNK2_HUMAN Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA. 198 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) cagctaggcaccatatttgga 0.363000 10 19 0 0 0.007413 0 0 ABCG4 64137 broad.mit.edu 37 11 119025586 119025586 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:119025586T>G uc001pvs.3 + 5 983 c.647T>G c.(646-648)gTc>gGc p.V216G ABCG4_uc009zar.3_Missense_Mutation_p.V216G NM_022169 NP_071452 Q9H172 ABCG4_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA. 216 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CTGGAGCTGGTCAACAACCCG 0.627000 85 7 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179629430 179629430 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179629430G>A uc021vsy.1 - 41 10037 c.9812C>T c.(9811-9813)tCc>tTc p.S3271F TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 3271 Ig-like 19. 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) CTTGTACCAGGAAATTTTGGG 0.527000 27 82 0 0 0.014410 0 0 PARD3B 117583 broad.mit.edu 37 2 206480197 206480197 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:206480197C>T uc002var.2 + 22 3485 c.3278C>T c.(3277-3279)cCt>cTt p.P1093L PARD3B_uc002vao.2_Missense_Mutation_p.P992L|PARD3B_uc002vap.2_Missense_Mutation_p.P1031L|PARD3B_uc002vaq.2_Missense_Mutation_p.P1024L NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 1093 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCCGCAGATCCTGTAGACTAT 0.562000 82 24 0 0 0.003954 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954379 10954379 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:10954379T>G uc001qyv.3 - 0 848 c.791A>C c.(790-792)gAa>gCa p.E264A NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA. 264 sensory perception of taste integral to membrane taste receptor activity p.T263S(1) kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 CACAGCTAATTCCGTCTCTGG 0.413000 40 37 0 0 0.004878 0 0 DBH 1621 broad.mit.edu 37 9 136505042 136505042 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:136505042G>A uc004cel.3 + 1 423 c.414G>A c.(412-414)agG>agA p.R138R NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 138 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) AGGTGCAGAGGACCCCAGAAG 0.612000 1 22 0 0 0.012319 0 0 FAM70B 348013 broad.mit.edu 37 13 114507916 114507916 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:114507916C>T uc001vuh.3 + 7 755 c.728C>T c.(727-729)cCc>cTc p.P243L NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 243 integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) CTCTACAACCCCGCCCAGCAG 0.677000 53 15 0 0 0.006122 0 0 FTSJD2 23070 broad.mit.edu 37 6 37414140 37414140 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:37414140C>T uc003ons.3 + 3 612 c.359C>T c.(358-360)tCc>tTc p.S120F FTSJD2_uc010jwu.2_Missense_Mutation_p.S120F NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA. 120 G-patch. mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 GTTGAGGCTTCCAGTCAGAAA 0.527000 84 128 0 0 0.014410 0 0 CASP8 841 broad.mit.edu 37 2 202136301 202136301 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:202136301T>C uc002uxr.1 + 3 577 c.368T>C c.(367-369)cTt>cCt p.L123P CASP8_uc010ftc.1_Missense_Mutation_p.L123P|CASP8_uc002uxo.1_Missense_Mutation_p.L123P|CASP8_uc002uxq.1_Missense_Mutation_p.L123P|CASP8_uc002uxp.1_Missense_Mutation_p.L155P|CASP8_uc002uxs.1_Missense_Mutation_p.L123P|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.L182P|CASP8_uc010ftd.1_Missense_Mutation_p.L20P|CASP8_uc002uxv.1_Missense_Mutation_p.L123P|CASP8_uc002uxw.1_Missense_Mutation_p.L123P|CASP8_uc021vuy.1_Intron|CASP8_uc021vuz.1_Missense_Mutation_p.L123P|CASP8_uc021vva.1_Missense_Mutation_p.L123P|CASP8_uc010ftf.2_Missense_Mutation_p.L123P|CASP8_uc010fte.1_Missense_Mutation_p.L20P NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 123 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTTAAGTTTCTTTTGCAAGAG 0.418000 HNSCC(4;0.00038) 31 4 0 0 0.000602 0 0 EPHA6 285220 broad.mit.edu 37 3 97124004 97124004 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:97124004G>A uc010how.1 + 5 1660 c.1617G>A c.(1615-1617)ctG>ctA p.L539L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 444 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CACCTTCCCTGATAGGTGTGG 0.393000 5 4 0 0 0.001168 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944941 117944941 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:117944941C>T uc001ehd.1 + 1 1157 c.436C>T c.(436-438)Caa>Taa p.Q146* MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA. 146 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TAAGGTAGTCCAAGAAATGAA 0.403000 27 13 0 0 0.002450 0 0 UNC13C 440279 broad.mit.edu 37 15 54306208 54306209 + Nonsense_Mutation DNP CC TA TA TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:54306208_54306209CC>TA uc021smr.1 + 0 1108_1109 c.1108_1109CC>TA c.(1108-1110)cca>TAa p.P370* UNC13C_uc021sms.1_Nonsense_Mutation_p.P370* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 370 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) GAGAGACTGCCCAAATGCAAAG 0.391000 22 17 0 0 0.004672 0 0 PYHIN1 149628 broad.mit.edu 37 1 158909006 158909006 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:158909006C>T uc001ftb.3 + 3 798 c.548C>T c.(547-549)tCa>tTa p.S183L PYHIN1_uc001fta.4_Missense_Mutation_p.S183L|PYHIN1_uc001ftc.3_Missense_Mutation_p.S174L|PYHIN1_uc001ftd.3_Missense_Mutation_p.S183L|PYHIN1_uc001fte.3_Missense_Mutation_p.S174L NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 183 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CAGACCTCATCATCAGCTCCA 0.507000 13 39 0 0 0.009718 0 0 XKR4 114786 broad.mit.edu 37 8 56436609 56436609 + Silent SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:56436609A>G uc003xsf.3 + 2 1808 c.1776A>G c.(1774-1776)gaA>gaG p.E592E NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 592 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GGATTGAAGAATCAGTCATTA 0.488000 38 38 0 0 0.006999 0 0 MUC16 94025 broad.mit.edu 37 19 9062444 9062444 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9062444G>A uc002mkp.3 - 2 25206 c.25002C>T c.(25000-25002)acC>acT p.T8334T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8336 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTCCAAAGTGGTCAGTCTCT 0.493000 60 54 0 0 0.014410 0 0 AMPD3 272 broad.mit.edu 37 11 10503703 10503704 + Missense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:10503703_10503704CC>TT uc001min.1 + 3 892_893 c.547_548CC>TT c.(547-549)ccg>TTg p.P183L AMPD3_uc010rbz.1_Missense_Mutation_p.P15L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.P174L|AMPD3_uc001mio.1_Missense_Mutation_p.P174L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P181L|AMPD3_uc009yfy.2_Missense_Mutation_p.P174L NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 174 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.P183L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CCACCGCTTCCCGCGGATCACA 0.609000 32 59 0 0 0.004672 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978696 148978696 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:148978696C>T uc011kuo.2 + 5 1066 c.903C>T c.(901-903)atC>atT p.I301I AF035281_uc003wfr.4_Intron NM_001195220 NP_001182149 C9J9J2 C9J9J2_HUMAN Homo sapiens zinc finger family member 783 (ZNF783), mRNA. 301 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AGTGTAGAATCCCCCGAGGGC 0.687000 67 25 0 0 0.004656 0 0 MUC16 94025 broad.mit.edu 37 19 9047336 9047336 + Missense_Mutation SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9047336G>C uc002mkp.3 - 4 34499 c.34295C>G c.(34294-34296)aCa>aGa p.T11432R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11434 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 AAATGAGGTTGTGGTCTCTGG 0.473000 115 10 0 0 0.008291 0 0 DNAH5 1767 broad.mit.edu 37 5 13923496 13923496 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:13923496G>A uc003jfd.2 - 3 373 c.331C>T c.(331-333)Cct>Tct p.P111S DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 111 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P111T(2) 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) AACACCTTAGGTTTTTTAATC 0.428000 Kartagener syndrome 38 45 0 0 0.010771 0 0 LRP1B 53353 broad.mit.edu 37 2 141665549 141665549 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:141665549G>A uc002tvj.1 - 21 4389 c.3417C>T c.(3415-3417)ccC>ccT p.P1139P LRP1B_uc010fnl.1_Silent_p.P321P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1139 LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.P1138L(1) 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) AAGGATGCTTGGGTGGTCCAC 0.468000 TSP Lung(27;0.18) 22 50 0 0 0.014410 0 0 TNFSF10 8743 broad.mit.edu 37 3 172227089 172227089 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:172227089G>A uc003fid.3 - 3 459 c.336C>T c.(334-336)ccC>ccT p.P112P TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Intron NM_003810 NP_003801 P50591 TNF10_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA. 112 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CTCTCACTAGGGGAGAAATAT 0.403000 43 32 0 0 0.004289 0 0 CCDC87 55231 broad.mit.edu 37 11 66358272 66358272 + Nonsense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:66358272C>A uc001oiq.4 - 0 2283 c.2215G>T c.(2215-2217)Gag>Tag p.E739* CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 739 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TCAAACCACTCTAGTCTCGCC 0.562000 76 31 4.02929e-09 4.7711e-09 0.010818 1 0 PAAF1 80227 broad.mit.edu 37 11 73625470 73625470 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:73625470T>C uc001ouk.1 + 7 774 c.740T>C c.(739-741)gTt>gCt p.V247A PAAF1_uc001oul.1_Missense_Mutation_p.V230A|PAAF1_uc001oum.1_Missense_Mutation_p.V230A NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA. 247 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) GAACGGGAGGTTGGAACAGAG 0.483000 18 25 0 0 0.008361 0 0 CYLC1 1538 broad.mit.edu 37 X 83129238 83129238 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:83129238G>A uc004eei.1 + 3 1543 c.1522G>A c.(1522-1524)Gat>Aat p.D508N CYLC1_uc004eeh.1_Missense_Mutation_p.D507N NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 508 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TTCAAAGAAAGATATCAAGAA 0.353000 0 11 0 0 0.010729 0 0 OR5T3 390154 broad.mit.edu 37 11 56019898 56019898 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:56019898C>T uc010rjd.2 + 0 223 c.223C>T c.(223-225)Ctg>Ttg p.L75L NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G74V(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) CAATTTAGGGCTGGTTGTGTT 0.373000 41 14 0 0 0.002450 0 0 ACD 65057 broad.mit.edu 37 16 67694175 67694176 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:67694175_67694176CC>TT uc002etq.4 - 0 543_544 c.206_207GG>AA c.(205-207)tgg>tAA p.W69* ACD_uc002etp.4_Nonsense_Mutation_p.W69*|ACD_uc002etr.4_Nonsense_Mutation_p.W69*|ACD_uc010vjt.1_Nonsense_Mutation_p.W59*|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA. 69 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCGGGCGCCCAGGCCCCGCC 0.733000 17 29 0 0 0.004672 0 0 UBE3C 9690 broad.mit.edu 37 7 156967666 156967666 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:156967666G>A uc010lqs.3 + 4 708 c.396G>A c.(394-396)ttG>ttA p.L132L UBE3C_uc003wnf.2_Silent_p.L89L|UBE3C_uc003wng.2_Silent_p.L132L NM_014671 NP_055486 Q15386 UBE3C_HUMAN Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA. 132 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TCAAGCAGTTGGATGGATCTG 0.318000 87 17 0 0 0.007413 0 0 ZPBP 11055 broad.mit.edu 37 7 50097584 50097584 + Splice_Site SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:50097584C>A uc003tou.3 - 4 557 c.487_splice c.e4+1 p.A163_splice ZPBP_uc010kyw.3_Splice_Site_p.A162_splice NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 163 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TTACTTCTTACCATATATAGC 0.279000 9 6 3.59834e-05 4.23278e-05 0.001168 1 0 SNX1 6642 broad.mit.edu 37 15 64410335 64410335 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:64410335C>T uc002amv.3 + 2 421 c.291C>T c.(289-291)tcC>tcT p.S97S SNX1_uc010bgv.3_Intron|SNX1_uc010uio.2_Silent_p.S97S|SNX1_uc002amx.3_Intron|SNX1_uc010bgw.3_Intron NM_003099 NP_003090 Q13596 SNX1_HUMAN Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA. 97 cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport Golgi apparatus|early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 TGGAGCTATCCTTGGACAGCA 0.403000 43 43 0 0 0.010771 0 0 ZNF341 84905 broad.mit.edu 37 20 32344994 32344994 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:32344994C>T uc002wzy.3 + 5 802 c.782C>T c.(781-783)cCc>cTc p.P261L ZNF341_uc002wzx.3_Missense_Mutation_p.P261L|ZNF341_uc010geq.3_Missense_Mutation_p.P171L|ZNF341_uc010ger.3_Non-coding_Transcript NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P261P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 TATCCCACCCCCACAGTGTAC 0.617000 97 73 0 0 0.014410 0 0 ZC3H13 23091 broad.mit.edu 37 13 46549572 46549572 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:46549572G>A uc010tfw.1 - 10 2320 c.2314C>T c.(2314-2316)Cgg>Tgg p.R772W ZC3H13_uc001vas.1_Missense_Mutation_p.R772W|ZC3H13_uc001vat.1_Missense_Mutation_p.R772W NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 772 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) tctcgttcccgttctcgctct 0.512000 25 42 0 0 0.006999 0 0 OR52A5 390054 broad.mit.edu 37 11 5153778 5153778 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:5153778G>A uc010qyx.2 - 0 95 c.95C>T c.(94-96)cCt>cTt p.P32L NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GGCAGAGAAAGGAATCCCAAT 0.393000 31 7 0 0 0.001984 0 0 USP9Y 8287 broad.mit.edu 37 Y 14889989 14889989 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrY:14889989G>A uc004fst.1 + 19 3621 c.2676G>A c.(2674-2676)cgG>cgA p.R892R USP9Y_uc010nwu.1_Non-coding_Transcript NM_004654 NP_004645 O00507 USP9Y_HUMAN Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA. 892 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTATAGTTCGGTTTCCAAACC 0.343000 3 13 0 0 0.002450 0 0 MX1 4599 broad.mit.edu 37 21 42811650 42811650 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:42811650G>A uc010goq.3 + 5 812 c.466G>A c.(466-468)Gga>Aga p.G156R MX1_uc002yzh.3_Missense_Mutation_p.G156R|MX1_uc002yzi.3_Missense_Mutation_p.G156R NM_001178046 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA. 156 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GGAAGGAATGGGAATCAGTCA 0.493000 54 22 0 0 0.002780 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535994 69535994 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:69535994C>T uc021xow.1 - 0 501 c.343G>A c.(343-345)Gaa>Aaa p.E115K NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 115 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CAACACAATTCTTGTAATTGT 0.284000 29 49 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181726163 181726163 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:181726163C>T uc009wxt.3 + 29 4425 c.4230C>T c.(4228-4230)ttC>ttT p.F1410F CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1410 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGTGGTCTTCCCCTTCTTCT 0.488000 21 40 0 0 0.006230 0 0 CCDC127 133957 broad.mit.edu 37 5 205858 205858 + Silent SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:205858A>G uc003jam.1 - 2 437 c.337T>C c.(337-339)Ttg>Ctg p.L113L NM_145265 NP_660308 Q96BQ5 CC127_HUMAN Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA. 113 breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 all cancers(22;0.0236)|Lung(60;0.113) TCTTCTACCAACTTGCGTCCC 0.488000 43 45 0 0 0.014410 0 0 PCDH15 65217 broad.mit.edu 37 10 55568779 55568779 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:55568779C>T uc021pqw.1 - 35 5435 c.5040G>A c.(5038-5040)agG>agA p.R1680R PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.R1675R|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gctcctcttTCCTACCCTTGA 0.448000 HNSCC(58;0.16) 4 4 0 0 0.009096 0 0 FHL3 2275 broad.mit.edu 37 1 38463120 38463121 + Missense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:38463120_38463121CC>TT uc001cck.3 - 5 978_979 c.799_800GG>AA c.(799-801)gga>AAa p.G267K FHL3_uc001ccm.3_Missense_Mutation_p.G159K NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 267 LIM zinc-binding 4. muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CACTTGGTCTCCATCCGGTACG 0.629000 55 12 0 0 0.004672 0 0 DNAH7 56171 broad.mit.edu 37 2 196737151 196737151 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:196737151G>A uc002utj.4 - 39 6557 c.6456C>T c.(6454-6456)atC>atT p.I2152I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2152 AAA 3 (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 TGCCATTTACGATTTGTGTGG 0.323000 50 13 0 0 0.002450 0 0 PPP6C 5537 broad.mit.edu 37 9 127912080 127912080 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:127912080G>A uc010mwv.3 - 7 1122 c.901C>T c.(901-903)Cgt>Tgt p.R301C PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 264 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.R264C(3)|p.T301T(2)|p.R301C(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTTCCACAACGATAGCAGTAA 0.403000 0 7 0 0 0.004482 0 0 ZBED1 9189 broad.mit.edu 37 X 2406910 2406910 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:2406910G>A uc022brx.1 - 0 1851 c.1851C>T c.(1849-1851)gcC>gcT p.A617A DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.A617A|ZBED1_uc004cqg.2_Silent_p.A617A|ZBED1_uc022brw.1_Silent_p.A617A NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 617 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GACGCTCAGGGGCGACGCGCG 0.657000 101 79 0 0 0.014410 0 0 CDRT4 284040 broad.mit.edu 37 17 15341424 15341424 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:15341424C>T uc002gop.2 - 3 403 c.122G>A c.(121-123)aGa>aAa p.R41K CDRT4_uc021tqm.1_Missense_Mutation_p.R41K|FAM18B2_uc010vvx.2_3'UTR|FAM18B2_uc010vvw.2_3'UTR NM_001204477 NP_001191406 Q8N9R6 CDRT4_HUMAN Homo sapiens CMT1A duplicated region transcript 4 (CDRT4), mRNA. 41 endometrium(3)|skin(1) 4 UCEC - Uterine corpus endometrioid carcinoma (92;0.0874) CTCAATGAGTCTTTTCACTGT 0.488000 6 41 0 0 0.008740 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41018857 41018857 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:41018857C>T uc003jmj.4 - 25 3099 c.2609G>A c.(2608-2610)gGa>gAa p.G870E HEATR7B2_uc003jmi.4_Missense_Mutation_p.G425E NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 870 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CAGAAGTTTTCCTAGGGCGTC 0.448000 40 27 0 0 0.008361 0 0 DYNLRB1 83658 broad.mit.edu 37 20 33122537 33122537 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:33122537C>T uc002xal.3 + 2 245 c.185C>T c.(184-186)cCc>cTc p.P62L DYNLRB1_uc010zuk.2_Missense_Mutation_p.P62L NM_014183 NP_054902 Q9NP97 DLRB1_HUMAN Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA. 62 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity endometrium(1)|large_intestine(1)|lung(1) 3 GACATCGACCCCCAGAACGAT 0.537000 30 29 0 0 0.008361 0 0 CLPX 10845 broad.mit.edu 37 15 65443233 65443233 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:65443233G>A uc002aom.3 - 13 1902 c.1830C>T c.(1828-1830)tcC>tcT p.S610S CLPX_uc010uiu.2_Non-coding_Transcript NM_006660 NP_006651 O76031 CLPX_HUMAN Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA. 610 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 CCTCTTCAGAGGATTCTTTTG 0.373000 64 56 0 0 0.014410 0 0 C1orf173 127254 broad.mit.edu 37 1 75078426 75078426 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:75078426C>T uc001dgg.3 - 8 1287 c.1068G>A c.(1066-1068)ggG>ggA p.G356G CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G150G NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 356 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCACCTGCATCCCATTCAGGA 0.428000 11 35 0 0 0.004878 0 0 OR4N4 283694 broad.mit.edu 37 15 22383168 22383168 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:22383168G>A uc001yuc.1 + 6 1677 c.696G>A c.(694-696)ggG>ggA p.G232G abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.G232G NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTTCTGAAGGGAAGAACAAGG 0.498000 146 42 0 0 0.008740 0 0 DHX37 57647 broad.mit.edu 37 12 125441650 125441650 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:125441650G>A uc001ugy.3 - 16 2288 c.2189C>T c.(2188-2190)tCc>tTc p.S730F NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 730 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGCTTCCACGGAGGGGGGCGT 0.617000 6 52 0 0 0.014410 0 0 AKR1B10 57016 broad.mit.edu 37 7 134222378 134222378 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:134222378G>A uc003vrr.3 + 6 1026 c.706G>A c.(706-708)Gag>Aag p.E236K NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 236 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 CAAGATTAAGGAGATTGCTGC 0.448000 54 92 0 0 0.014410 0 0 OR52E4 390081 broad.mit.edu 37 11 5906189 5906189 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:5906189C>T uc010qzs.2 + 0 667 c.667C>T c.(667-669)Ctt>Ttt p.L223F TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGCTTATCCTTAGAGCTGT 0.428000 58 34 0 0 0.004878 0 0 DNAH3 55567 broad.mit.edu 37 16 20996728 20996728 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:20996728G>A uc010vbe.2 - 47 7336 c.7336C>T c.(7336-7338)Ctg>Ttg p.L2446L DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2446 AAA 4 (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) AATGTGGACAGTTTGGCGGCA 0.527000 23 12 0 0 0.001855 0 0 MAGI1 9223 broad.mit.edu 37 3 65416490 65416490 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:65416490T>G uc003dmn.3 - 10 1956 c.1430A>C c.(1429-1431)aAa>aCa p.K477T MAGI1_uc003dmm.3_Missense_Mutation_p.K477T|MAGI1_uc003dmo.3_Missense_Mutation_p.K477T|MAGI1_uc003dmp.3_Missense_Mutation_p.K477T|MAGI1_uc010hny.2_Missense_Mutation_p.K362T NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 477 PDZ 2. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding p.R476Q(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ACGACTGCTTTTCCGCAGCTT 0.458000 3 23 0 0 0.014323 0 0 ATP10A 57194 broad.mit.edu 37 15 26026297 26026297 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:26026297C>T uc010ayu.3 - 1 629 c.523G>A c.(523-525)Gaa>Aaa p.E175K NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 175 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E175K(2) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGGAAGATTTCGTTGCAGCGA 0.498000 27 21 0 0 0.008871 0 0 TBC1D13 54662 broad.mit.edu 37 9 131559354 131559354 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:131559354C>T uc010myj.3 + 6 527 c.404C>T c.(403-405)tCc>tTc p.S135F TBC1D13_uc010myk.3_Missense_Mutation_p.S135F|TBC1D13_uc010myl.3_5'UTR NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA. 135 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 CCAGACATTTCCTTCTTCCAG 0.502000 8 66 0 0 0.014410 0 0 ZNF445 353274 broad.mit.edu 37 3 44488675 44488675 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:44488675C>T uc003cnf.2 - 7 2836 c.2488G>A c.(2488-2490)Gag>Aag p.E830K ZNF445_uc011azv.1_Missense_Mutation_p.E818K|ZNF445_uc011azw.1_Missense_Mutation_p.E830K NM_181489 NP_852466 P59923 ZN445_HUMAN Homo sapiens zinc finger protein 445 (ZNF445), mRNA. 830 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) ATTTTTGGCTCCACATTTGGA 0.403000 14 50 0 0 0.014410 0 0 PCDH15 65217 broad.mit.edu 37 10 55719528 55719528 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:55719528G>A uc010qhy.1 - 23 3496 c.3101C>T c.(3100-3102)cCt>cTt p.P1034L PCDH15_uc010qhq.2_Missense_Mutation_p.P1034L|PCDH15_uc010qhr.2_Missense_Mutation_p.P1029L|PCDH15_uc021pqv.1_Missense_Mutation_p.P1029L|PCDH15_uc021pqw.1_Missense_Mutation_p.P1041L|PCDH15_uc010qht.2_Missense_Mutation_p.P1036L|PCDH15_uc021pqx.1_Missense_Mutation_p.P1029L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1029L|PCDH15_uc021pqz.1_Missense_Mutation_p.P1007L|PCDH15_uc010qhv.1_Missense_Mutation_p.P1029L|PCDH15_uc010qhw.1_Missense_Mutation_p.P992L|PCDH15_uc010qhx.1_Missense_Mutation_p.P958L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1029L|PCDH15_uc010qia.1_Missense_Mutation_p.P1007L|PCDH15_uc001jju.1_Missense_Mutation_p.P1029L|PCDH15_uc010qib.1_Missense_Mutation_p.P1007L NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1029 Cadherin 9. 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.R1034H(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) GATCTCACCAGGATGTAAGAC 0.413000 HNSCC(58;0.16) 8 11 0 0 0.013537 0 0 ITFG2 55846 broad.mit.edu 37 12 2927111 2927111 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:2927111G>A uc001qlb.2 + 2 369 c.229G>A c.(229-231)Gga>Aga p.G77R ITFG2_uc001qla.2_Missense_Mutation_p.G77R|ITFG2_uc010seb.2_Intron|ITFG2_uc010sec.2_Non-coding_Transcript NM_018463 NP_060933 Q969R8 ITFG2_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA. 77 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GTGTAATAAAGGAAAGGTAAG 0.483000 38 33 0 0 0.006230 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795942 15795942 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:15795942C>T uc002nbl.3 + 8 1169 c.1050C>T c.(1048-1050)taC>taT p.Y350Y NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ACCCAGAATACCAGGAGCGCT 0.587000 37 30 0 0 0.012213 0 0 SLC12A8 84561 broad.mit.edu 37 3 124807214 124807214 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:124807214C>T uc003ehw.4 - 13 2079 c.2009_splice c.e13-1 p.G670_splice SLC12A8_uc003ehv.4_Splice_Site_p.G641_splice|SLC12A8_uc003eht.4_Splice_Site_p.G442_splice|SLC12A8_uc010hry.3_Intron NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 641 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GGAGGCTGATCCTGCAGGGAA 0.463000 16 16 0 0 0.004990 0 0 DYSF 8291 broad.mit.edu 37 2 71730396 71730396 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:71730396C>T uc010fen.3 + 3 433 c.292C>T c.(292-294)Ctg>Ttg p.L98L DYSF_uc010fei.3_Silent_p.L97L|DYSF_uc010feh.3_Silent_p.L97L|DYSF_uc002sig.4_Silent_p.L97L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L97L|DYSF_uc010fee.3_Silent_p.L97L|DYSF_uc010fef.3_Silent_p.L97L|DYSF_uc002sie.3_Silent_p.L97L|DYSF_uc010feo.3_Silent_p.L98L|DYSF_uc010fej.3_Silent_p.L98L|DYSF_uc010fel.3_Silent_p.L98L|DYSF_uc010fem.3_Silent_p.L98L|DYSF_uc002sif.3_Silent_p.L98L|DYSF_uc010fek.3_Silent_p.L98L NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 97 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 CACCCCTAGTCTGTCCGCCAG 0.582000 89 25 0 0 0.007291 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999038 27999038 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:27999038C>T uc004dbx.1 - 0 529 c.414G>A c.(412-414)gcG>gcA p.A138A NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA. 138 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ACTCCTCCAACGCCTGATCCT 0.577000 2 11 0 0 0.013537 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596164 24596164 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:24596164C>T uc011djo.2 - 2 1238 c.738G>A c.(736-738)gaG>gaA p.E246E KIAA0319_uc011djp.2_Silent_p.E201E|KIAA0319_uc003neh.1_Silent_p.E246E|KIAA0319_uc011djq.1_Silent_p.E237E|KIAA0319_uc011djr.1_Silent_p.E246E NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 246 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 TCTCCAACACCTCTCCTGAAG 0.527000 27 55 0 0 0.014410 0 0 TDRKH 11022 broad.mit.edu 37 1 151751596 151751596 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:151751596C>T uc009wnb.1 - 4 726 c.544G>A c.(544-546)Gaa>Aaa p.E182K TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.E178K|TDRKH_uc001ezc.4_Missense_Mutation_p.E137K|TDRKH_uc001eza.4_Missense_Mutation_p.E182K|TDRKH_uc001ezd.4_Missense_Mutation_p.E182K|TDRKH_uc010pdn.1_5'UTR NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 182 KH 2. RNA binding p.E182Q(2) breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCTGCCACTTCCTTCTGTGTT 0.398000 33 71 0 0 0.014410 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916862 97916862 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:97916862C>T uc001klp.3 + 5 1640 c.783C>T c.(781-783)ccC>ccT p.P261P ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Silent_p.P261P|ZNF518A_uc001klr.3_Silent_p.P261P NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN Homo sapiens zinc finger protein 518A (ZNF518A), mRNA. 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GTACTTTTCCCTTCACTTGTC 0.348000 21 23 0 0 0.014323 0 0 GRK4 2868 broad.mit.edu 37 4 3031080 3031080 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:3031080G>A uc003ggn.1 + 11 1668 c.1213G>A c.(1213-1215)Gat>Aat p.D405N GRK4_uc003ggo.1_Missense_Mutation_p.D405N|GRK4_uc003ggp.1_Missense_Mutation_p.D373N|GRK4_uc003ggq.1_Missense_Mutation_p.D373N NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 405 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AATCAAGAATGATACCGAGGA 0.423000 30 7 0 0 0.006214 0 0 LRRC7 57554 broad.mit.edu 37 1 70493873 70493873 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:70493873G>A uc001dep.3 + 15 1730 c.1700G>A c.(1699-1701)cGa>cAa p.R567Q LRRC7_uc009wbg.3_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 567 centrosome|focal adhesion|nucleolus protein binding p.R567*(2) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AACCTAAAACGATATCCAACT 0.323000 23 40 0 0 0.009718 0 0 C11orf53 341032 broad.mit.edu 37 11 111156735 111156735 + Missense_Mutation SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:111156735G>T uc001plc.3 + 3 814 c.667G>T c.(667-669)Ggg>Tgg p.G223W NM_198498 NP_940900 Q8IXP5 CK053_HUMAN Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA. 223 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GAAAGAAGATGGGAGTATTGC 0.522000 42 19 1.56452e-12 1.86491e-12 0.007413 1 0 DMBT1 1755 broad.mit.edu 37 10 124348527 124348527 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:124348527C>T uc001lgk.1 + 16 1957 c.1851C>T c.(1849-1851)gtC>gtT p.V617V DMBT1_uc001lgl.1_Silent_p.V607V|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.V617V|DMBT1_uc021qag.1_Silent_p.V607V|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.V617V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 617 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GAGTGGAGGTCCTATACCGAG 0.577000 94 62 0 0 0.014410 0 0 MYH2 4620 broad.mit.edu 37 17 10428832 10428832 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:10428832C>T uc010coi.3 - 31 4601 c.4473G>A c.(4471-4473)aaG>aaA p.K1491K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1491K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1491 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CATAGGCATTCTTTATCTTGA 0.443000 5 36 0 0 0.006999 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038956 17038956 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:17038956G>A uc002nfb.3 - 24 3406 c.3374C>T c.(3373-3375)tCc>tTc p.S1125F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1078 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 CCAGCCGGTGGAAAAGCCAAT 0.597000 29 34 0 0 0.006999 0 0 CHST10 9486 broad.mit.edu 37 2 101009730 101009730 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:101009730T>C uc002tam.3 - 6 1446 c.1048A>G c.(1048-1050)Aaa>Gaa p.K350E NM_004854 NP_004845 O43529 CHSTA_HUMAN Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA. 350 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 AAGTCTGGTTTCTGGTACCCA 0.458000 54 24 0 0 0.003954 0 0 P2RY13 53829 broad.mit.edu 37 3 151046628 151046628 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:151046628G>A uc003eyv.2 - 1 237 c.216C>T c.(214-216)atC>atT p.I72I MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA. 72 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) AGGAGCTGGGGATGTGAACAA 0.483000 33 33 0 0 0.010818 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21487557 21487557 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:21487557C>T uc001rer.3 - 0 276 c.25G>A c.(25-27)Gaa>Aaa p.E9K SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.E9K|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 9 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CTATGGGTTTCAATTCTTTTC 0.348000 43 22 0 0 0.003330 0 0 EPHB2 2048 broad.mit.edu 37 1 23235571 23235571 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:23235571C>T uc009vqj.1 + 12 2554 c.2409C>T c.(2407-2409)ttC>ttT p.F803F EPHB2_uc001bge.3_Silent_p.F804F|EPHB2_uc001bgf.3_Silent_p.F803F|EPHB2_uc010odu.2_Silent_p.F745F NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 803 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACCGGAAGTTCACCTCGGCCA 0.597000 31 7 0 0 0.004482 0 0 USP29 57663 broad.mit.edu 37 19 57640306 57640306 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:57640306C>T uc002qny.3 + 3 619 c.263C>T c.(262-264)tCc>tTc p.S88F USP29_uc021vci.1_Missense_Mutation_p.S88F NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 88 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GACAAATTATCCTACAGAGAT 0.348000 20 15 0 0 0.003163 0 0 NBPF1 55672 broad.mit.edu 37 1 16902912 16902912 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:16902912C>T uc009vos.1 - 18 2857 c.1969G>A c.(1969-1971)Gaa>Aaa p.E657K NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.E115K|NBPF1_uc010oce.1_Missense_Mutation_p.E386K NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 657 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) TCTCTCCCTTCCCGTAACTTC 0.517000 481 51 0 0 0.014410 0 0 CPT1A 1374 broad.mit.edu 37 11 68525182 68525182 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:68525182C>T uc001oog.4 - 18 2422 c.2252G>A c.(2251-2253)gGa>gAa p.G751E CPT1A_uc001oof.4_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 751 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CAGGTGCCTTCCAAAGCGATG 0.398000 19 26 0 0 0.007291 0 0 TRIM55 84675 broad.mit.edu 37 8 67039647 67039647 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:67039647G>A uc003xvv.3 + 0 370 c.144G>A c.(142-144)agG>agA p.R48R TRIM55_uc003xvu.3_Silent_p.R48R|TRIM55_uc003xvw.3_Silent_p.R48R|TRIM55_uc003xvx.3_Silent_p.R48R NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 48 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ACCTGTGTAGGAAATGTGCCA 0.448000 106 69 0 0 0.014410 0 0 DAND5 199699 broad.mit.edu 37 19 13080481 13080481 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:13080481C>T uc002mwc.1 + 0 158 c.7C>T c.(7-9)Ctt>Ttt p.L3F DAND5_uc010dyz.1_Missense_Mutation_p.L33F NM_152654 NP_689867 Q8N907 DAND5_HUMAN Homo sapiens DAN domain family, member 5 (DAND5), mRNA. 3 extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) gcagaTGCTCCTTGGCCAGCT 0.617000 73 30 0 0 0.008361 0 0 FTSJD1 55783 broad.mit.edu 37 16 71319742 71319742 + Missense_Mutation SNP C T T rs147189785 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:71319742C>T uc021tkr.1 - 0 82 c.82G>A c.(82-84)Gaa>Aaa p.E28K FTSJD1_uc010cga.3_Missense_Mutation_p.E28K|FTSJD1_uc002ezy.4_Missense_Mutation_p.E28K|FTSJD1_uc002ezz.4_Missense_Mutation_p.E28K NM_018348 NP_060818 Q8IYT2 FTSJ1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA. 28 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCAAAGAGTTCAAAAATGTCA 0.403000 6 15 0 0 0.004990 0 0 SH2D6 284948 broad.mit.edu 37 2 85663599 85663599 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:85663599C>T uc002spq.3 + 3 583 c.422C>T c.(421-423)tCc>tTc p.S141F SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript NM_198482 NP_940884 Q7Z4S9 SH2D6_HUMAN Homo sapiens SH2 domain containing 6 (SH2D6), mRNA. 141 SH2. central_nervous_system(1)|lung(2) 3 CTCTTCTCCTCCGTGGCGGCC 0.632000 6 17 0 0 0.007413 0 0 IP6K3 117283 broad.mit.edu 37 6 33694580 33694580 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:33694580G>A uc010jvf.2 - 4 1053 c.517C>T c.(517-519)Ccg>Tcg p.P173S IP6K3_uc003ofb.2_Missense_Mutation_p.P173S NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 173 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 AGGCCCCACGGGTTGAAGCTC 0.612000 53 17 0 0 0.004007 0 0 KIAA1377 57562 broad.mit.edu 37 11 101834437 101834437 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:101834437C>T uc001pgm.3 + 5 2941 c.2671C>T c.(2671-2673)Cat>Tat p.H891Y KIAA1377_uc001pgn.3_Missense_Mutation_p.H847Y|KIAA1377_uc010run.2_Missense_Mutation_p.H692Y|KIAA1377_uc009yxa.1_Missense_Mutation_p.H692Y NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 891 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAAATAAATCATTCAAATGG 0.418000 24 23 0 0 0.014323 0 0 F8 2157 broad.mit.edu 37 X 154157318 154157318 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:154157318G>A uc004fmt.3 - 13 4918 c.4747C>T c.(4747-4749)Cct>Tct p.P1583S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1583 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAAGCAAGAGGATCCAATAGC 0.428000 11 93 0 0 0.014410 0 0 MYH15 22989 broad.mit.edu 37 3 108219027 108219027 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:108219027C>T uc003dxa.1 - 4 551 c.494G>A c.(493-495)cGa>cAa p.R165Q NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 165 Myosin head-like. 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 AGCCTCTGATCGCCTCTTCCC 0.463000 27 20 0 0 0.007413 0 0 ODZ4 26011 broad.mit.edu 37 11 78380018 78380018 + Missense_Mutation SNP T A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:78380018T>A uc001ozl.4 - 31 7835 c.7372A>T c.(7372-7374)Atc>Ttc p.I2458F ODZ4_uc001ozk.4_Missense_Mutation_p.I683F NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2458 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GAGTTGCTGATGGGGTTGTTG 0.502000 22 38 0 0 0.011902 0 0 DNAH5 1767 broad.mit.edu 37 5 13762932 13762932 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:13762932C>T uc003jfd.2 - 59 10222 c.10180G>A c.(10180-10182)Gaa>Aaa p.E3394K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3394 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) TTAGCAGTTTCGATGTTATAG 0.373000 Kartagener syndrome 30 33 0 0 0.010818 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361671 105361671 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:105361671C>T uc003ylx.1 + 1 940 c.891C>T c.(889-891)ttC>ttT p.F297F NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 297 osteoclast differentiation cell surface|integral to membrane|plasma membrane GGCTGTTTTTCCTCCCCATAC 0.478000 88 77 0 0 0.014410 0 0 TOM1 10043 broad.mit.edu 37 22 35729433 35729433 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:35729433G>A uc003ann.3 + 9 1095 c.970G>A c.(970-972)Gac>Aac p.D324N TOM1_uc011ami.2_Missense_Mutation_p.D291N|TOM1_uc003anp.3_Missense_Mutation_p.D324N|TOM1_uc011aml.2_Missense_Mutation_p.D279N|TOM1_uc011amk.2_Missense_Mutation_p.D286N|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.D167N|MIR3909_uc021woj.1_5'Flank NM_005488 NP_005479 O60784 TOM1_HUMAN Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA. 324 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 TGACCTGATCGACATGGGCCC 0.607000 21 34 0 0 0.003755 0 0 ACOX1 51 broad.mit.edu 37 17 73945809 73945809 + Missense_Mutation SNP G A A rs143601596 byFrequency TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:73945809G>A uc002jqe.3 - 9 1829 c.1468C>T c.(1468-1470)Cgt>Tgt p.R490C ACOX1_uc010wsq.2_Missense_Mutation_p.R452C|ACOX1_uc010wsr.2_Missense_Mutation_p.R422C|ACOX1_uc002jqf.3_Missense_Mutation_p.R490C NM_004035 NP_001171968 Q15067 ACOX1_HUMAN Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. 490 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 CTGGCTGCACGGAGTTTATAT 0.562000 5 29 0 0 0.012213 0 0 COL11A2 1302 broad.mit.edu 37 6 33141489 33141489 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:33141489G>A uc003ocx.1 - 34 2845 c.2617C>T c.(2617-2619)Cct>Tct p.P873S COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P787S|COL11A2_uc003ocz.1_Missense_Mutation_p.P766S NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 873 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTCTCTCCAGGGGGCCCATGG 0.627000 14 16 0 0 0.006122 0 0 GABRG1 2565 broad.mit.edu 37 4 46066497 46066497 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:46066497G>A uc003gxb.3 - 4 738 c.586C>T c.(586-588)Ccc>Tcc p.P196S NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 196 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 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) TCATCCATGGGAAAGTTATGA 0.269000 70 17 0 0 0.012319 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483237 54483237 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:54483237C>T uc002rxr.2 - 0 173 c.52G>A c.(52-54)Gaa>Aaa p.E18K ACYP2_uc002rxq.4_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN Homo sapiens TSPY-like 6 (TSPYL6), mRNA. 18 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 TGCGGGTCTTCCAGAGCATAG 0.607000 94 33 0 0 0.006999 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709222 22709222 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:22709222C>T uc010axw.2 - 10 1175 c.277G>A c.(277-279)Gag>Aag p.E93K abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.E93K|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA. GCTGGGGGCTCCGGGGGCAGA 0.527000 114 22 0 0 0.003755 0 0 AICDA 57379 broad.mit.edu 37 12 8757938 8757938 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:8757938C>T uc001qur.2 - 2 379 c.300G>A c.(298-300)ggG>ggA p.G100G AICDA_uc001qup.1_Silent_p.G95G|AICDA_uc001quq.1_Silent_p.G95G|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA. 100 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) GGTTGGGGTTCCCTCGCAGAA 0.672000 22 21 0 0 0.012319 0 0 BRD4 23476 broad.mit.edu 37 19 15349230 15349230 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:15349230G>A uc002nar.3 - 19 4269 c.4047C>T c.(4045-4047)ttC>ttT p.F1349F NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 1349 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GATCACTCTGGAAATTCATGT 0.458000 T C15orf55 lethal midline carcinoma of young people 27 18 0 0 0.014323 0 0 PTPRR 5801 broad.mit.edu 37 12 71094984 71094984 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:71094984C>T uc001swi.2 - 6 1541 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q PTPRR_uc001swh.2_Missense_Mutation_p.R131Q|PTPRR_uc009zrs.3_Missense_Mutation_p.R170Q|PTPRR_uc010stq.2_Missense_Mutation_p.R264Q|PTPRR_uc010str.1_Missense_Mutation_p.R225Q NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 376 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TGTGAGAATTCGGCTGGCTGA 0.463000 5 72 0 0 0.014410 0 0 ZNF799 90576 broad.mit.edu 37 19 12491607 12491607 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:12491607G>A uc002mts.4 - 3 989 c.469C>T c.(469-471)Cct>Tct p.P157S Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 CTGTAATCAGGGAAGGCTTTA 0.393000 25 21 0 0 0.008871 0 0 NEK11 79858 broad.mit.edu 37 3 130889731 130889731 + Splice_Site SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:130889731G>A uc003eny.3 + 14 1725 c.1399_splice c.e14+1 p.E467_splice NEK11_uc003enx.3_Splice_Site_p.A467_splice|NEK11_uc003eoa.3_Splice_Site_p.E467_splice|NEK11_uc003enz.3_Splice_Site_p.E285_splice|NEK11_uc011blk.2_Splice_Site_p.E283_splice|NEK11_uc011bll.2_Splice_Site_p.E362_splice|NEK11_uc011blm.2_Splice_Site_p.G467_splice NM_024800 NP_079076 Q8NG66 NEK11_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA. 467 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TGGATACCATGGTATGTGTTT 0.498000 72 46 0 0 0.014410 0 0 DDX20 11218 broad.mit.edu 37 1 112309275 112309275 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:112309275C>T uc001ebs.3 + 10 2586 c.2229C>T c.(2227-2229)tcC>tcT p.S743S DDX20_uc010owf.2_Silent_p.S505S|DDX20_uc001ebt.3_Silent_p.S351S NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA. 743 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCGGTCTTCCTTCAGATTGC 0.458000 19 27 0 0 0.004656 0 0 AK5 26289 broad.mit.edu 37 1 77984388 77984388 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:77984388G>A uc001dhn.3 + 10 1624 c.1287G>A c.(1285-1287)atG>atA p.M429I AK5_uc001dho.3_Missense_Mutation_p.M403I NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 429 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity p.I428S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GAGACATTATGGAACGTGGAG 0.468000 51 13 0 0 0.002450 0 0 NCOA2 10499 broad.mit.edu 37 8 71056961 71056961 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:71056961G>A uc003xyn.1 - 12 2890 c.2728C>T c.(2728-2730)Ccc>Tcc p.P910S NCOA2_uc011lfb.1_Intron NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 910 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ACTGAGTAGGGACTACTGTTT 0.468000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 47 33 0 0 0.003271 0 0 NRIP3 56675 broad.mit.edu 37 11 9009825 9009825 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:9009825G>A uc001mhg.2 - 1 293 c.179C>T c.(178-180)cCt>cTt p.P60L NRIP3_uc010rbu.1_Missense_Mutation_p.P60L NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN Homo sapiens nuclear receptor interacting protein 3 (NRIP3), mRNA. 60 proteolysis aspartic-type endopeptidase activity large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) AATATTATGAGGTTGCTTGAG 0.507000 10 23 0 0 0.014323 0 0 ZNF536 9745 broad.mit.edu 37 19 30935918 30935918 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:30935918G>A uc002nsu.1 + 1 1587 c.1449G>A c.(1447-1449)ggG>ggA p.G483G ZNF536_uc010edd.1_Silent_p.G483G NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCCCGGAGGGGGACAAGCACT 0.657000 43 26 0 0 0.007291 0 0 PCSK2 5126 broad.mit.edu 37 20 17208089 17208089 + Missense_Mutation SNP C T T rs143788251 by1000genomes TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:17208089C>T uc002wpm.3 + 0 493 c.139C>T c.(139-141)Cgc>Tgc p.R47C PCSK2_uc002wpl.3_Missense_Mutation_p.R28C|PCSK2_uc010zrm.2_Missense_Mutation_p.R47C NM_002594 NP_001188457 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA. 47 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGACAAAGCTCGCCAAGTTGC 0.537000 19 20 0 0 0.010504 0 0 APOL3 80833 broad.mit.edu 37 22 36556761 36556761 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:36556761C>T uc003aot.3 - 0 217 c.179G>A c.(178-180)aGa>aAa p.R60K APOL3_uc003aoq.3_5'UTR|APOL3_uc003aor.3_5'UTR|APOL3_uc003aos.3_5'UTR|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR NM_145640 NP_663617 O95236 APOL3_HUMAN Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. 60 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TCCAGCTGTTCTGAGCTGTGT 0.507000 39 40 0 0 0.014410 0 0 FAM219A 203259 broad.mit.edu 37 9 34401682 34401682 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:34401682G>A uc011lok.2 - 4 688 c.381C>T c.(379-381)tcC>tcT p.S127S FAM219A_uc003zuj.3_Silent_p.S110S|FAM219A_uc011lol.2_Silent_p.S116S|FAM219A_uc003zul.3_Silent_p.S99S|FAM219A_uc022bgc.1_Silent_p.S127S|FAM219A_uc022bgd.1_Silent_p.S110S|FAM219A_uc003zuk.3_Silent_p.S99S NM_001184940 NP_001171869 Q8IW50 CI025_HUMAN Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA. 127 AGGAGTAGCCGGAGGAGGAGT 0.547000 1 10 0 0 0.013537 0 0 MTDH 92140 broad.mit.edu 37 8 98731362 98731362 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:98731362C>T uc003yhz.3 + 9 1794 c.1466C>T c.(1465-1467)tCc>tTc p.S489F MTDH_uc010mbf.3_Non-coding_Transcript NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN Homo sapiens metadherin (MTDH), mRNA. 489 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AAAGCTTTTTCCTTGAAGACC 0.393000 47 32 0 0 0.004878 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136305490 136305490 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:136305490C>T uc004cdv.4 + 15 2256 c.1812C>T c.(1810-1812)gtC>gtT p.V604V ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.V604V|ADAMTS13_uc004cdu.1_Silent_p.V573V|ADAMTS13_uc004cdw.4_Silent_p.V604V|ADAMTS13_uc004cdx.4_Silent_p.V573V|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Silent_p.V274V|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Silent_p.V129V NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 604 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGCGCTATGTCGTGGCTGGGA 0.622000 6 23 0 0 0.003954 0 0 PSG8 440533 broad.mit.edu 37 19 43268361 43268361 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:43268361G>A uc002ouo.2 - 1 235 c.137C>T c.(136-138)tCt>tTt p.S46F PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.S46F|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 46 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CTTCCCCTCAGAAACTTTGGT 0.473000 100 83 0 0 0.014410 0 0 PROC 5624 broad.mit.edu 37 2 128186093 128186093 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:128186093C>T uc002tol.3 + 8 1047 c.1020C>T c.(1018-1020)tgC>tgT p.C340C PROC_uc002tok.3_Silent_p.C319C|PROC_uc010yzi.2_Silent_p.C375C|PROC_uc010yzj.2_Silent_p.C214C|PROC_uc010yzk.2_Silent_p.C374C NM_000312 NP_000303 P04070 PROC_HUMAN Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. 319 Peptidase S1. T -> M (in ADPROCD; Vermont-2). blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity p.T340T(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) TGCCCATCTGCCTCCCGGACA 0.657000 51 18 0 0 0.007413 0 0 CSN3 1448 broad.mit.edu 37 4 71114848 71114848 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:71114848C>T uc003hfe.4 + 3 279 c.221C>T c.(220-222)cCa>cTa p.P74L NM_005212 NP_005203 P07498 CASK_HUMAN Homo sapiens casein kappa (CSN3), mRNA. 74 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 ATTAATAATCCATATGTGCCT 0.433000 15 20 0 0 0.007413 0 0 PHF21B 112885 broad.mit.edu 37 22 45312397 45312397 + Silent SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:45312397G>T uc003bfn.3 - 3 478 c.327C>A c.(325-327)ccC>ccA p.P109P PHF21B_uc011aqk.2_Silent_p.P97P|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Silent_p.P109P|PHF21B_uc011aqm.1_Silent_p.P97P NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 109 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) GGGCTGGGCTGGGGTTCTTGA 0.716000 185 25 9.04412e-07 1.06668e-06 0.004656 1 0 SCPEP1 59342 broad.mit.edu 37 17 55079448 55079448 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:55079448C>T uc002iuv.4 + 11 1255 c.1202C>T c.(1201-1203)gCc>gTc p.A401V SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Missense_Mutation_p.A351V NM_021626 NP_067639 Q9HB40 RISC_HUMAN Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA. 401 proteolysis extracellular region serine-type carboxypeptidase activity p.A401T(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) AAGTGGAAGGCCCTGTACAGT 0.483000 7 47 0 0 0.014410 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445306 32445306 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:32445306C>T uc002rof.2 + 14 1090 c.1030C>T c.(1030-1032)Cga>Tga p.R344* SLC30A6_uc002roe.2_Nonsense_Mutation_p.R304*|SLC30A6_uc010ymw.2_Nonsense_Mutation_p.R275*|SLC30A6_uc010ezr.2_Nonsense_Mutation_p.R281*|SLC30A6_uc002rog.2_Nonsense_Mutation_p.R107*|SLC30A6_uc010ezs.2_Nonsense_Mutation_p.R230*|SLC30A6_uc002roh.2_Nonsense_Mutation_p.R107* NM_001193513 NP_001180442 Q6NXT4 ZNT6_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA. 304 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity p.R304*(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGTAAGAATTCGACGAGATGC 0.353000 42 10 0 0 0.010729 0 0 TPTE2 93492 broad.mit.edu 37 13 20048194 20048194 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:20048194G>A uc001umd.3 - 6 463 c.252C>T c.(250-252)gtC>gtT p.V84V TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Silent_p.V47V|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 84 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CATCCAGTAAGACCAGGAAAA 0.308000 19 26 0 0 0.003954 0 0 SSRP1 6749 broad.mit.edu 37 11 57099631 57099631 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:57099631G>A uc001njt.3 - 7 1263 c.996C>T c.(994-996)ttC>ttT p.F332F NM_003146 NP_003137 Q08945 SSRP1_HUMAN Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA. 332 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CTCACCCTTGGAAGTTGCCTG 0.562000 14 21 0 0 0.014323 0 0 ZNF561 93134 broad.mit.edu 37 19 9721792 9721792 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9721792G>A uc002mlu.3 - 5 750 c.545C>T c.(544-546)cCa>cTa p.P182L ZNF561_uc010dwu.3_Missense_Mutation_p.P113L|ZNF561_uc010xkr.2_Missense_Mutation_p.P46L NM_152289 NP_689502 Q8N587 ZN561_HUMAN Homo sapiens zinc finger protein 561 (ZNF561), mRNA. 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 AGCAAGACCTGGAGTTAGAGT 0.388000 24 26 0 0 0.003330 0 0 TBC1D9 23158 broad.mit.edu 37 4 141590897 141590897 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:141590897G>A uc010ioj.3 - 7 1600 c.1328C>T c.(1327-1329)gCt>gTt p.A443V NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 443 intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTCTCCATCAGCATCAGAGCT 0.572000 24 4 0 0 0.000602 0 0 C6 729 broad.mit.edu 37 5 41181543 41181543 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:41181543G>A uc003jmk.2 - 6 1055 c.845C>T c.(844-846)cCa>cTa p.P282L C6_uc003jml.1_Missense_Mutation_p.P282L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 282 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATAAAAAATTGGTACACTGAA 0.373000 44 24 0 0 0.003330 0 0 CCDC11 220136 broad.mit.edu 37 18 47788448 47788448 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:47788448C>T uc002lee.2 - 1 302 c.211G>A c.(211-213)Gac>Aac p.D71N NM_145020 NP_659457 Q96M91 CCD11_HUMAN Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA. 71 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) ATCTTGCAGTCATTGTGCTGG 0.443000 71 36 0 0 0.006230 0 0 PCCA 5095 broad.mit.edu 37 13 100982855 100982855 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:100982855C>T uc001voo.3 + 16 1576 c.1470C>T c.(1468-1470)atC>atT p.I490I PCCA_uc010aga.3_Silent_p.I464I|PCCA_uc010tiz.2_Silent_p.I490I NM_000282 NP_000273 P05165 PCCA_HUMAN Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 490 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) AGGTGATAATCAACTCACGCT 0.313000 12 15 0 0 0.004007 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 84 28 0 0 0.008361 0 0 ABCA12 26154 broad.mit.edu 37 2 215865705 215865705 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:215865705C>T uc002vew.3 - 21 3123 c.2903G>A c.(2902-2904)aGa>aAa p.R968K ABCA12_uc002vev.3_Missense_Mutation_p.R650K|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 968 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTCATAGCCTCTGTGCCAGCT 0.393000 51 15 0 0 0.002450 0 0 abParts 0 broad.mit.edu 37 22 22681916 22681916 + RNA SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:22681916C>T uc021wml.1 + 38 c.3992C>T Parts of antibodies, mostly variable regions. TCTGGGGCCCCAGGGCAGAGG 0.592000 114 56 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179641389 179641389 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179641389C>T uc021vsy.1 - 27 5427 c.5202G>A c.(5200-5202)atG>atA p.M1734I TTN_uc021vsz.1_Missense_Mutation_p.M1688I|TTN_uc021vta.1_Missense_Mutation_p.M1688I|TTN_uc021vtb.1_Missense_Mutation_p.M1688I|TTN_uc002unb.2_Missense_Mutation_p.M1734I|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1734 Ig-like 8. 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) ACTCCACCACCATCGTTGGGT 0.473000 32 11 0 0 0.010729 0 0 ZNF665 79788 broad.mit.edu 37 19 53669091 53669091 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:53669091G>A uc010eqm.1 - 3 752 c.652C>T c.(652-654)Cgt>Tgt p.R218C NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGGTTTGAACGAACAGTAAAG 0.408000 57 35 0 0 0.003755 0 0 S100G 795 broad.mit.edu 37 X 16669154 16669154 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:16669154G>A uc004cxn.1 + 1 79 c.25G>A c.(25-27)Gaa>Aaa p.E9K CTPS2_uc004cxk.3_Intron|CTPS2_uc004cxl.3_Intron|CTPS2_uc004cxm.3_Intron NM_004057 NP_004048 P29377 S100G_HUMAN Homo sapiens S100 calcium binding protein G (S100G), mRNA. 9 calcium ion binding|vitamin D binding large_intestine(1)|lung(1) 2 Hepatocellular(33;0.0997) GTCTCCTGAGGAACTGAAGAG 0.393000 4 41 0 0 0.006999 0 0 XKR5 389610 broad.mit.edu 37 8 6690401 6690401 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:6690401T>C uc022aqv.1 - 1 231 c.80A>G c.(79-81)tAc>tGc p.Y27C XKR5_uc003wqq.3_5'UTR|LOC100652791_uc022aqw.1_5'Flank NM_207411 NP_997294 Q6UX68 XKR5_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA. 27 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGTGGTGAAGTAGTAAGCCAC 0.577000 13 14 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179584052 179584052 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179584052C>T uc021vsy.1 - 79 20558 c.20333G>A c.(20332-20334)gGa>gAa p.G6778E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3439E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7705 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATCTCATTTCCATCCTGAAA 0.512000 32 74 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9072540 9072540 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9072540G>A uc002mkp.3 - 2 15110 c.14906C>T c.(14905-14907)tCt>tTt p.S4969F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4971 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 TATTTCTGCAGATTCTGTCAT 0.502000 27 38 0 0 0.007835 0 0 OR8G1 26494 broad.mit.edu 37 11 124120862 124120862 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:124120862G>A uc001pzx.3 + 0 440 c.440G>A c.(439-441)gGg>gAg p.G147E NM_001002905 NP_001002905 Q15617 OR8G1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA. 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174) CTGATTTTAGGGGTGTATATA 0.403000 18 36 0 0 0.003271 0 0 KNDC1 85442 broad.mit.edu 37 10 134999585 134999585 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:134999585G>A uc001llz.1 + 5 734 c.733G>A c.(733-735)Ggc>Agc p.G245S KNDC1_uc001lma.1_Missense_Mutation_p.G180S NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 245 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GACCCCCGAAGGCCCGGAGTC 0.716000 4 8 0 0 0.004482 0 0 MTMR14 64419 broad.mit.edu 37 3 9739528 9739528 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:9739528G>A uc003brz.3 + 17 1898 c.1747G>A c.(1747-1749)Gat>Aat p.D583N MTMR14_uc003bsa.3_Intron|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Intron NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA. 583 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) CAGCTTCCCGGATGAGCTCCC 0.567000 17 99 0 0 0.014410 0 0 FSTL5 56884 broad.mit.edu 37 4 162421188 162421188 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:162421188C>T uc003iqh.3 - 11 1874 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K FSTL5_uc003iqi.3_Missense_Mutation_p.E479K|FSTL5_uc010iqv.3_Missense_Mutation_p.E470K NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 480 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGGAGCTTTTCACTAGGCTTA 0.338000 2 9 0 0 0.008291 0 0 PDILT 204474 broad.mit.edu 37 16 20386275 20386275 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:20386275C>T uc002dhc.1 - 4 773 c.550G>A c.(550-552)Gag>Aag p.E184K NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 184 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 ACTTCTTCCTCTAAATCCTAT 0.433000 58 40 0 0 0.014410 0 0 SATB2 23314 broad.mit.edu 37 2 200193516 200193516 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:200193516G>A uc002uuy.2 - 7 2108 c.1291C>T c.(1291-1293)Cgc>Tgc p.R431C SATB2_uc010fsq.2_Missense_Mutation_p.R313C|SATB2_uc002uva.2_Missense_Mutation_p.R431C|SATB2_uc002uuz.2_Missense_Mutation_p.R431C NM_001172509 NP_056080 Q9UPW6 SATB2_HUMAN Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA. 431 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity p.R431H(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGTAGATGCGATCTCGCTCC 0.562000 48 12 0 0 0.010729 0 0 DAOA 267012 broad.mit.edu 37 13 106119401 106119401 + Splice_Site SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:106119401G>A uc001vqb.3 + 2 319 c.45_splice c.e2-1 p.R15_splice DAOA-AS1_uc021rmh.1_Intron|DAOA_uc010tjf.2_5'UTR|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Splice_Site|DAOA_uc010tjg.2_5'UTR|DAOA_uc001vqc.3_Splice_Site|DAOA_uc001vqe.3_5'Flank NM_172370 NP_001155286 P59103 DAOA_HUMAN Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA. 15 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TTAATTTTTAGATCCAGATAT 0.333000 11 26 0 0 0.003954 0 0 FAM26E 254228 broad.mit.edu 37 6 116836980 116836980 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:116836980C>T uc003pwy.3 + 1 810 c.758C>T c.(757-759)cCt>cTt p.P253L BET3L_uc011ebh.2_Intron NM_153711 NP_714922 Q8N5C1 FA26E_HUMAN Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA. 253 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) AGGCCAGATCCTTTTCCCATG 0.483000 6 39 0 0 0.009718 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001407 52001407 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:52001407G>A uc002pwx.1 - 4 1326 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* SIGLEC12_uc002pww.1_Nonsense_Mutation_p.Q306*|SIGLEC12_uc010eoy.1_Nonsense_Mutation_p.Q151* NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 424 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding p.Q424*(2) NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTCGAGGACTGTGAGGGGCTC 0.622000 20 16 0 0 0.007413 0 0 SF3B14 51639 broad.mit.edu 37 2 24296976 24296976 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:24296976C>T uc002rev.3 - 1 334 c.119G>A c.(118-120)gGg>gAg p.G40E LOC375190_uc002rew.3_5'Flank|SF3B14_uc010eyb.3_Intron NM_016047 NP_057131 Q9Y3B4 PM14_HUMAN Homo sapiens splicing factor 3B, 14 kDa subunit (SF3B14), mRNA. 40 RRM. nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|nucleoplasm RNA binding|nucleotide binding|protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCATATTTCCCAAATATATC 0.318000 13 26 0 0 0.007291 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314516 25314516 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:25314516C>T uc003grl.4 + 0 121 c.85C>T c.(85-87)Ctt>Ttt p.L29F NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA. 29 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) GGAGGTGGTGCTTCCTTTGGA 0.677000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 17 0 0 0.008871 0 0 AP2A2 161 broad.mit.edu 37 11 993865 993865 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:993865G>A uc001lst.2 + 12 1878 c.1665G>A c.(1663-1665)gtG>gtA p.V555V AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.V554V|AP2A2_uc009ycq.1_Silent_p.V145V NM_001242837 NP_001229766 O94973 AP2A2_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA. 554 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCCGGAGGTGAAGCCCACCA 0.637000 1 6 0 0 0.001168 0 0 UNC13C 440279 broad.mit.edu 37 15 54707203 54707203 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:54707203G>A uc021smr.1 + 16 4865 c.4865G>A c.(4864-4866)gGa>gAa p.G1622E UNC13C_uc021sms.1_Missense_Mutation_p.G1624E|UNC13C_uc002acl.3_Missense_Mutation_p.G454E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1624 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.N1622N(1)|p.G1624E(1) 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) CTGAACATGGGAAAAATAAGT 0.299000 22 17 0 0 0.002780 0 0 C1orf114 57821 broad.mit.edu 37 1 169388371 169388371 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:169388371C>T uc001gga.1 - 3 1263 c.1095G>A c.(1093-1095)gaG>gaA p.E365E C1orf114_uc001gfz.1_Silent_p.E365E|C1orf114_uc009wvq.1_Silent_p.E365E|C1orf114_uc001ggb.3_Silent_p.E365E NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 365 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) TTTTTTCTTTCTCTTCTTCTA 0.323000 13 7 0 0 0.001984 0 0 TG 7038 broad.mit.edu 37 8 133953646 133953646 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:133953646C>T uc003ytw.3 + 25 5133 c.5092C>T c.(5092-5094)Caa>Taa p.Q1698* TG_uc010mdw.3_Nonsense_Mutation_p.Q457*|TG_uc011ljb.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1698 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.Q1698P(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CACTGGTTTCCAAAACATGCT 0.473000 63 40 0 0 0.011902 0 0 TTN 7273 broad.mit.edu 37 2 179431955 179431955 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179431955C>T uc021vsy.1 - 274 71425 c.71200G>A c.(71200-71202)Gaa>Aaa p.E23734K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17429K|TTN_uc021vta.1_Missense_Mutation_p.E17362K|TTN_uc021vtb.1_Missense_Mutation_p.E17237K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24661 Fibronectin type-III 72. 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) GAGCATTTTTCAGAAGTGACT 0.443000 145 33 0 0 0.013726 0 0 DHX36 170506 broad.mit.edu 37 3 154027598 154027598 + Silent SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:154027598T>C uc003ezy.4 - 4 738 c.657A>G c.(655-657)ttA>ttG p.L219L DHX36_uc010hvq.3_Silent_p.L219L|DHX36_uc003ezz.4_Silent_p.L219L NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 219 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGTTATCAATTAAATTTACCA 0.308000 2 9 0 0 0.004482 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403731 47403731 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:47403731C>T uc001cqp.4 - 1 325 c.274G>A c.(274-276)Gga>Aga p.G92R CYP4A11_uc001cqq.2_Missense_Mutation_p.G92R|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 92 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) ACTTTGCCTCCCCATAGCCAA 0.507000 30 66 0 0 0.014410 0 0 NPAS4 266743 broad.mit.edu 37 11 66190383 66190383 + Silent SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:66190383A>G uc001ohx.1 + 3 845 c.669A>G c.(667-669)aaA>aaG p.K223K NPAS4_uc010rpc.1_Missense_Mutation_p.K50R NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 223 PAS 2. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCCATGCTAAAGACCTGGCTC 0.602000 14 13 0 0 0.001855 0 0 SPTA1 6708 broad.mit.edu 37 1 158604384 158604384 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:158604384C>T uc001fst.1 - 38 5713 c.5514G>A c.(5512-5514)aaG>aaA p.K1838K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1838 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCAAAGCATTCTTTTCATTGA 0.408000 19 37 0 0 0.008740 0 0 LATS2 26524 broad.mit.edu 37 13 21557379 21557379 + Silent SNP G A A rs139454181 byFrequency TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:21557379G>A uc009zzs.3 - 4 2831 c.2466C>T c.(2464-2466)tcC>tcT p.S822S LATS2_uc001unr.4_Silent_p.S822S NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 822 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) GGTAATATTTGGAATTGTGAG 0.423000 31 13 0 0 0.002450 0 0 CSMD1 64478 broad.mit.edu 37 8 2944702 2944702 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:2944702C>T uc022aqr.1 - 48 7781 c.7391G>A c.(7390-7392)cGa>cAa p.R2464Q CSMD1_uc011kwj.2_Missense_Mutation_p.R1794Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R533Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2465 Sushi 14. 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) GCCGACCATTCGGTATCCAGG 0.517000 23 33 0 0 0.013726 0 0 SPATA25 128497 broad.mit.edu 37 20 44516183 44516183 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:44516183G>A uc002xqf.3 - 0 56 c.47C>T c.(46-48)tCc>tTc p.S16F NM_080608 NP_542175 Q9BR10 CT165_HUMAN Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA. 16 integral to membrane ACCTTGGCCGGAAGGCAGAGG 0.612000 25 14 0 0 0.001855 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363655 42363655 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:42363655C>T uc001zox.3 - 15 1763 c.1668G>A c.(1666-1668)aaG>aaA p.K556K NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 556 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGCTCCTGGTCTTGTCCTTGA 0.562000 31 27 0 0 0.004656 0 0 MORC1 27136 broad.mit.edu 37 3 108822720 108822720 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:108822720C>T uc003dxl.3 - 3 286 c.199G>A c.(199-201)Gat>Aat p.D67N MORC1_uc011bhn.2_Missense_Mutation_p.D67N NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 67 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 CATCCATCATCCAGGAAACAC 0.363000 45 29 0 0 0.004289 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114072 117114072 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:117114072G>A uc003pxj.1 - 5 2036 c.2014C>T c.(2014-2016)Ctt>Ttt p.L672F GPRC6A_uc003pxk.1_Missense_Mutation_p.L497F|GPRC6A_uc003pxl.1_Missense_Mutation_p.L601F NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 672 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GAGATGCAAAGAGTAAAGCTC 0.408000 5 15 0 0 0.003163 0 0 PCSK1 5122 broad.mit.edu 37 5 95746650 95746650 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:95746650C>T uc003kls.2 - 7 1162 c.923G>A c.(922-924)gGa>gAa p.G308E PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.G261E NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 308 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCCCGTTTCCCGAAGCCCA 0.512000 13 81 0 0 0.014410 0 0 UGGT1 56886 broad.mit.edu 37 2 128867245 128867245 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:128867245C>T uc002tps.3 + 4 624 c.446C>T c.(445-447)tCg>tTg p.S149L UGGT1_uc010fme.1_Missense_Mutation_p.S24L|UGGT1_uc002tpr.3_Missense_Mutation_p.S125L NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA. 149 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GGATGTAATTCGTTTTTTTCA 0.373000 16 35 0 0 0.006230 0 0 CSMD3 114788 broad.mit.edu 37 8 113960107 113960107 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:113960107C>T uc003ynu.3 - 9 1580 c.1421_splice c.e9-1 p.L474_splice CSMD3_uc003ynt.3_Splice_Site_p.L434_splice|CSMD3_uc011lhx.2_Splice_Site_p.L370_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 474 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 CCCTCATTTACTGCAACAGCA 0.284000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 17 0 0 0.006122 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111785312 111785312 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:111785312C>T uc010hqb.2 + 10 1421 c.1251C>T c.(1249-1251)gaC>gaT p.D417D TMPRSS7_uc011bhr.1_Silent_p.D272D NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 543 CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GCTTCAGGGACTGTGAGAATG 0.478000 52 42 0 0 0.006999 0 0 ADH1B 125 broad.mit.edu 37 4 100239320 100239320 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:100239320G>A uc003hus.4 - 2 226 c.142C>T c.(142-144)Cac>Tac p.H48Y ADH1B_uc003hut.4_Missense_Mutation_p.H8Y|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.H8Y NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 48 R -> H (in beta-2; allele ADH1B*2; common in Asian populations; associated with a lower risk of alcoholism; dbSNP:rs1229984). 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) TCATCTGTGTGACAGATTCCT 0.458000 33 44 0 0 0.013114 0 0 ADCY8 114 broad.mit.edu 37 8 131916094 131916094 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:131916094C>T uc003ytd.4 - 6 2091 c.1835G>A c.(1834-1836)aGa>aAa p.R612K ADCY8_uc010mds.3_Missense_Mutation_p.R612K NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 612 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.R612I(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCCACTGTTTCTCCGGTCTGA 0.478000 HNSCC(32;0.087) 31 45 0 0 0.009718 0 0 FLG2 388698 broad.mit.edu 37 1 152326351 152326351 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:152326351C>T uc001ezw.4 - 2 3984 c.3911G>A c.(3910-3912)gGa>gAa p.G1304E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1304 calcium ion binding|structural molecule activity p.G1304A(2) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AACTGTGGATCCTGACTTTGG 0.478000 58 116 0 0 0.014410 0 0 FAM219A 203259 broad.mit.edu 37 9 34401684 34401684 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:34401684A>G uc011lok.2 - 4 686 c.379T>C c.(379-381)Tcc>Ccc p.S127P FAM219A_uc003zuj.3_Missense_Mutation_p.S110P|FAM219A_uc011lol.2_Missense_Mutation_p.S116P|FAM219A_uc003zul.3_Missense_Mutation_p.S99P|FAM219A_uc022bgc.1_Missense_Mutation_p.S127P|FAM219A_uc022bgd.1_Missense_Mutation_p.S110P|FAM219A_uc003zuk.3_Missense_Mutation_p.S99P NM_001184940 NP_001171869 Q8IW50 CI025_HUMAN Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA. 127 GAGTAGCCGGAGGAGGAGTAT 0.557000 1 10 0 0 0.013537 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074463 106074463 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:106074463C>T uc001kyf.3 - 2 1800 c.1347G>A c.(1345-1347)tgG>tgA p.W449* ITPRIP_uc001kye.3_Nonsense_Mutation_p.W449*|ITPRIP_uc001kyg.3_Nonsense_Mutation_p.W449*|ITPRIP_uc021pxv.1_Nonsense_Mutation_p.W449* NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 449 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 GCCCCGCCTTCCAGTCGGCGG 0.637000 14 20 0 0 0.010504 0 0 COBLL1 22837 broad.mit.edu 37 2 165552277 165552277 + Missense_Mutation SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:165552277G>T uc002ucp.3 - 11 1961 c.1739C>A c.(1738-1740)aCa>aAa p.T580K COBLL1_uc002ucq.3_Missense_Mutation_p.T542K|COBLL1_uc010zcw.2_Missense_Mutation_p.T647K|COBLL1_uc010zcx.2_Missense_Mutation_p.T588K|COBLL1_uc002ucn.3_Missense_Mutation_p.T8K|COBLL1_uc002uco.3_Missense_Mutation_p.T311K NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 618 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 ATTGATTTCTGTTTTCTTCAC 0.318000 61 27 4.7796e-09 5.65207e-09 0.004656 1 0 C8orf31 286122 broad.mit.edu 37 8 144126123 144126123 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:144126123G>A uc003yxp.1 + 3 596 c.244G>A c.(244-246)Gga>Aga p.G82R C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript NM_173687 NP_775958 Q8N9H6 CH031_HUMAN Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA. 82 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCACTTTCTGGGAGACACAGA 0.622000 26 24 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179658259 179658259 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179658259C>T uc021vsy.1 - 8 1633 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K TTN_uc021vsz.1_Missense_Mutation_p.E470K|TTN_uc021vta.1_Missense_Mutation_p.E470K|TTN_uc021vtb.1_Missense_Mutation_p.E470K|TTN_uc002unb.2_Missense_Mutation_p.E470K|TTN_uc010frg.1_Missense_Mutation_p.E144K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 470 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) TTCTCCGCTTCCTTTCTTACC 0.398000 44 12 0 0 0.001855 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033577 82033577 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:82033577G>A uc002fgu.3 - 2 449 c.321C>T c.(319-321)ctC>ctT p.L107L NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 107 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GGCAAACCTGGAGGATGTTGT 0.473000 48 37 0 0 0.006999 0 0 KCNV1 27012 broad.mit.edu 37 8 110984919 110984919 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:110984919C>T uc003ynr.4 - 1 1363 c.559G>A c.(559-561)Gga>Aga p.G187R KCNV1_uc010mcw.3_Missense_Mutation_p.G187R NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA. 187 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.Q186K(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGACAAGGTCCTTGGGAGAAG 0.468000 34 31 0 0 0.010818 0 0 UTS2D 257313 broad.mit.edu 37 3 190995954 190995954 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:190995954C>T uc003fsu.3 - 5 896 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_198152 NP_937795 Q765I0 UTS2B_HUMAN Homo sapiens urotensin 2 domain containing (UTS2D), mRNA. 37 extracellular region hormone activity lung(5)|skin(1)|stomach(2) 8 all_cancers(143;1.77e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000214) GGAAATATTTCATTTCCTATA 0.294000 10 7 0 0 0.001984 0 0 TNIK 23043 broad.mit.edu 37 3 170786636 170786636 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:170786636C>T uc003fhh.2 - 30 4044 c.3699_splice c.e30+1 p.H1233_splice TNIK_uc003fhi.2_Splice_Site_p.H1178_splice|TNIK_uc003fhj.2_Splice_Site_p.H1204_splice|TNIK_uc003fhk.2_Splice_Site_p.H1225_splice|TNIK_uc003fhl.2_Splice_Site_p.H1149_splice|TNIK_uc003fhm.2_Splice_Site_p.H1170_splice|TNIK_uc003fhn.2_Splice_Site_p.H1196_splice|TNIK_uc003fho.2_Splice_Site_p.H1141_splice|TNIK_uc003fhg.2_Splice_Site_p.H411_splice|TNIK_uc003fhp.3_Splice_Site_p.H165_splice NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA. 1233 CNH. Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TGAGTACTTACATGAGATGGT 0.358000 13 13 0 0 0.013537 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128600 55128600 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:55128600C>T uc003pcl.3 + 3 1057 c.742C>T c.(742-744)Cgc>Tgc p.R248C HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 248 feeding behavior integral to plasma membrane neuropeptide receptor activity p.R248C(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCAAATATTTCGCAAACTCTG 0.373000 20 6 0 0 0.001168 0 0 TNS1 7145 broad.mit.edu 37 2 218712975 218712975 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:218712975G>A uc002vgt.2 - 16 2288 c.1890C>T c.(1888-1890)ccC>ccT p.P630P TNS1_uc002vgr.2_Silent_p.P630P|TNS1_uc002vgs.2_Silent_p.P630P|TNS1_uc010zjv.1_Silent_p.P630P|TNS1_uc010fvj.1_Silent_p.P698P|TNS1_uc010fvk.1_Silent_p.P755P|TNS1_uc010fvi.1_Silent_p.P317P NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 630 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCGGAGCTGGGGGCAGCTGGG 0.647000 20 39 0 0 0.008740 0 0 LRCH4 4034 broad.mit.edu 37 7 100179958 100179958 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:100179958G>A uc003uvj.3 - 1 398 c.345C>T c.(343-345)gcC>gcT p.A115A LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript NM_002319 NP_002310 O75427 LRCH4_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA. 115 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGTAGGTGAGGGCTGTGAGAT 0.627000 58 31 0 0 0.003271 0 0 UBR4 23352 broad.mit.edu 37 1 19477069 19477069 + Splice_Site SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:19477069A>G uc001bbi.3 - 49 7434 c.7430_splice c.e49+1 p.R2477_splice UBR4_uc001bbk.1_Splice_Site_p.R131_splice NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 2477 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCACTGGTACCTCTCCAGG 0.517000 59 16 0 0 0.003163 0 0 OR2A25 392138 broad.mit.edu 37 7 143771369 143771369 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:143771369C>T uc011ktx.2 + 0 57 c.57C>T c.(55-57)ggC>ggT p.G19G NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TTCCCATTGGCCCAAGGATTC 0.498000 49 98 0 0 0.014410 0 0 GPR113 165082 broad.mit.edu 37 2 26536365 26536365 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:26536365G>A uc002rhe.4 - 8 1353 c.1353C>T c.(1351-1353)gcC>gcT p.A451A GPR113_uc010yky.1_Silent_p.A382A|GPR113_uc002rhb.1_Silent_p.A54A|GPR113_uc010eyk.1_Silent_p.A252A|GPR113_uc002rhc.1_Silent_p.A54A|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 451 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGACATGGGGCCTGTGCCA 0.632000 6 7 0 0 0.001984 0 0 CD36 948 broad.mit.edu 37 7 80303373 80303373 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:80303373G>A uc003uhc.3 + 16 2013 c.1329G>A c.(1327-1329)ctG>ctA p.L443L CD36_uc011kgv.2_Silent_p.L367L|CD36_uc003uhd.4_Silent_p.L443L|CD36_uc003uhe.4_Silent_p.L443L|CD36_uc003uhf.4_Silent_p.L443L|CD36_uc003uhg.4_Silent_p.L443L|CD36_uc003uhh.4_Silent_p.L443L|CD36_uc022agu.1_Silent_p.L404L|CD36_uc022agv.1_Silent_p.L383L NM_001127444 NP_001120916 P16671 CD36_HUMAN Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA. 443 cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TCCTTGGCCTGATAGAAATGA 0.348000 16 27 0 0 0.004656 0 0 FCRL3 115352 broad.mit.edu 37 1 157665985 157665985 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:157665985C>T uc001fqz.4 - 6 1269 c.977G>A c.(976-978)gGa>gAa p.G326E FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G52E|FCRL3_uc001frb.3_Missense_Mutation_p.G326E|FCRL3_uc001frc.1_Missense_Mutation_p.G326E NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 326 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCTTACTCTTCCTTCTTTGTG 0.527000 23 32 0 0 0.003755 0 0 SAC3D1 29901 broad.mit.edu 37 11 64812189 64812189 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:64812189C>A uc001ocm.3 + 1 1456 c.1067C>A c.(1066-1068)tCc>tAc p.S356Y NM_013299 NP_037431 Homo sapiens SAC3 domain containing 1 (SAC3D1), mRNA. endometrium(2)|lung(1) 3 AGACCTGGGTCCCCAGCCTGA 0.562000 15 28 4.22769e-11 5.02601e-11 0.006320 1 0 SASH1 23328 broad.mit.edu 37 6 148840834 148840834 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:148840834C>T uc003qme.1 + 9 1489 c.1014C>T c.(1012-1014)tcC>tcT p.S338S SASH1_uc011eeb.1_Silent_p.S99S NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 338 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CTCCATCCTCCAGCAGCCTGG 0.572000 8 39 0 0 0.009718 0 0 EBF2 64641 broad.mit.edu 37 8 25899683 25899683 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:25899683C>T uc003xes.2 - 1 481 c.216G>A c.(214-216)gcG>gcA p.A72A DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Silent_p.A72A NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 72 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TGTCATAGAGCGCCAGGACGA 0.577000 46 29 0 0 0.007291 0 0 APOA4 337 broad.mit.edu 37 11 116692476 116692476 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:116692476C>T uc001pps.1 - 2 402 c.298G>A c.(298-300)Gag>Aag p.E100K NM_000482 NP_000473 Homo sapiens apolipoprotein A-IV (APOA4), mRNA. cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;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) ccaatctcctccttcagtttc 0.592000 68 98 0 0 0.014410 0 0 PRRG2 5639 broad.mit.edu 37 19 50086873 50086873 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:50086873G>A uc002pon.3 + 2 325 c.160G>A c.(160-162)Gac>Aac p.D54N PRRG2_uc010yaz.1_Missense_Mutation_p.D31N NM_000951 NP_000942 O14669 TMG2_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA. 54 Gla. extracellular region|integral to plasma membrane calcium ion binding lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) CAACCACTGGGACCTGGAGCT 0.572000 76 61 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 14 107048861 107048861 + RNA SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:107048861C>T uc021ser.1 - 169 c.7169G>A Parts of antibodies, mostly variable regions. GGACCCAGCTCATGTAGTTGC 0.592000 5 51 0 0 0.014410 0 0 VWF 7450 broad.mit.edu 37 12 6135213 6135213 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:6135213C>T uc001qnn.1 - 23 3218 c.2968_splice c.e23-1 p.E990_splice VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 990 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACACTTTCTCCTTGAGAGACA 0.562000 47 44 0 0 0.014410 0 0 DCC 1630 broad.mit.edu 37 18 50683792 50683792 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:50683792G>A uc002lfe.2 + 7 1944 c.1328G>A c.(1327-1329)cGa>cAa p.R443Q DCC_uc010xdr.1_Missense_Mutation_p.R291Q|DCC_uc010dpf.2_Missense_Mutation_p.R98Q NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 443 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R443Q(4) 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) GTTTCCAGCCGATTTGTCCGT 0.527000 70 31 0 0 0.005524 0 0 C16orf46 123775 broad.mit.edu 37 16 81095627 81095627 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:81095627G>A uc002fgc.4 - 3 586 c.327C>T c.(325-327)tcC>tcT p.S109S C16orf46_uc010chf.3_Silent_p.S109S|C16orf46_uc010vno.2_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA. 109 p.S109F(1) NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GGCTCCAGTGGGAGAGGTTAA 0.627000 60 54 0 0 0.014410 0 0 OR8D4 338662 broad.mit.edu 37 11 123777259 123777259 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:123777259G>A uc010saa.2 + 0 121 c.121G>A c.(121-123)Gga>Aga p.G41R NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TACTGTGGTGGGAAACCTCAG 0.413000 19 37 0 0 0.009718 0 0 ADAM2 2515 broad.mit.edu 37 8 39627040 39627040 + Missense_Mutation SNP A T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:39627040A>T uc003xnj.3 - 11 1158 c.1083T>A c.(1081-1083)caT>caA p.H361Q ADAM2_uc003xnk.3_Missense_Mutation_p.H342Q|ADAM2_uc011lck.2_Missense_Mutation_p.H361Q|ADAM2_uc003xnl.3_Missense_Mutation_p.H235Q NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 361 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTGAAATAAAATGTGCAAAGT 0.393000 19 13 0 0 0.002450 0 0 CDH9 1007 broad.mit.edu 37 5 26915903 26915903 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:26915903C>T uc003jgs.1 - 2 527 c.358G>A c.(358-360)Gaa>Aaa p.E120K CDH9_uc010iug.3_Missense_Mutation_p.E120K NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 120 Cadherin 1. 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 AGAGATTTTTCTTCTCTGTCT 0.373000 70 56 0 0 0.014410 0 0 NLRP8 126205 broad.mit.edu 37 19 56481909 56481909 + Splice_Site SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:56481909G>A uc002qmh.3 + 6 2453 c.2382_splice c.e6-1 p.R794_splice NLRP8_uc010etg.3_Splice_Site_p.R794_splice NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 794 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGCTTCTACAGGTTGGAAGAC 0.463000 87 62 0 0 0.014410 0 0 PCDH12 51294 broad.mit.edu 37 5 141325235 141325235 + Missense_Mutation SNP G T T rs141387550 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:141325235G>T uc003llx.3 - 3 4477 c.3266C>A c.(3265-3267)aCg>aAg p.T1089K NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN Homo sapiens protocadherin 12 (PCDH12), mRNA. 1089 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGCCGAACGTCTGGAAGGT 0.607000 7 32 2.85442e-18 3.41613e-18 0.010818 1 0 ZNF493 284443 broad.mit.edu 37 19 21606298 21606298 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:21606298C>T uc002npw.3 + 3 956 c.837C>T c.(835-837)taC>taT p.Y279Y ZNF493_uc002npx.3_Silent_p.Y151Y|ZNF493_uc002npy.3_Silent_p.Y151Y|ZNF493_uc021urq.1_Silent_p.Y151Y NM_001076678 NP_787106 Q6ZR52 ZN493_HUMAN Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA. 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AATTCTCATACCTTACTAGGC 0.358000 28 21 0 0 0.014323 0 0 FAM55A 120400 broad.mit.edu 37 11 114393163 114393163 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:114393163C>T uc001ppa.3 - 5 1162 c.745G>A c.(745-747)Gaa>Aaa p.E249K FAM55A_uc010rxd.2_Missense_Mutation_p.E98K NM_152315 NP_689528 Q8N323 FA55A_HUMAN Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA. 391 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 17 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) GTGTGTCTTTCTGCATCCAGA 0.338000 38 16 0 0 0.003163 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24345978 24345978 + RNA SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:24345978C>T uc010edb.1 - 0 c.272G>A Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. AAAGGGACATCCCTTCTTGAA 0.433000 185 161 0 0 0.014410 0 0 IYD 389434 broad.mit.edu 37 6 150713522 150713522 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:150713522G>A uc003qnx.2 + 2 552 c.412G>A c.(412-414)Gtg>Atg p.V138M IYD_uc003qnv.2_Missense_Mutation_p.V138M|IYD_uc003qnu.2_Missense_Mutation_p.V138M|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_Missense_Mutation_p.V56M NM_001164694 NP_001158166 Q6PHW0 IYD1_HUMAN Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA. 138 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) CTGGACCTTCGTGGTTGTGAA 0.488000 11 61 0 0 0.014410 0 0 TRMT1 55621 broad.mit.edu 37 19 13216316 13216316 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:13216316G>A uc002mwj.2 - 13 1938 c.1688C>T c.(1687-1689)cCt>cTt p.P563L LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.P167L|TRMT1_uc002mwk.2_Missense_Mutation_p.P534L|TRMT1_uc002mwl.3_Missense_Mutation_p.P563L|TRMT1_uc010xmz.1_Missense_Mutation_p.P349L NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA. 563 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CCGGGCACGAGGCCGGGGACC 0.662000 61 54 0 0 0.014410 0 0 HYDIN 54768 broad.mit.edu 37 16 70884483 70884483 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:70884483C>T uc002ezr.3 - 73 12667 c.12516G>A c.(12514-12516)aaG>aaA p.K4172K HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4173 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) GGTGGACTTTCTTTTCCACAT 0.443000 15 17 0 0 0.002780 0 0 ZNF366 167465 broad.mit.edu 37 5 71756214 71756214 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:71756214G>A uc003kce.1 - 1 1296 c.1110C>T c.(1108-1110)tgC>tgT p.C370C NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) AGTCGAGGCCGCACTCCACAC 0.647000 2 21 0 0 0.004656 0 0 SCN9A 6335 broad.mit.edu 37 2 167085480 167085480 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:167085480G>A uc010fpl.3 - 21 4235 c.3894C>T c.(3892-3894)gtC>gtT p.V1298V BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1309 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CATTCACAACGACCTAGTATT 0.343000 43 14 0 0 0.002450 0 0 SCN11A 11280 broad.mit.edu 37 3 38951578 38951578 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:38951578G>A uc021wvy.1 - 7 1279 c.1080C>T c.(1078-1080)tcC>tcT p.S360S NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 360 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCTTCTCCCAGGAATCTTGGG 0.398000 3 12 0 0 0.013537 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542879 182542879 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:182542879A>G uc021vto.1 - 0 709 c.709T>C c.(709-711)Tcc>Ccc p.S237P CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.S237P|NEUROD1_uc021vtn.1_Missense_Mutation_p.S237P NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 237 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) AAGACATGGGAGCTGTCCATG 0.632000 OREG0005604 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 204 61 0 0 0.014410 0 0 ADAM2 2515 broad.mit.edu 37 8 39613372 39613372 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:39613372G>A uc003xnj.3 - 15 1747 c.1672C>T c.(1672-1674)Cca>Tca p.P558S ADAM2_uc003xnk.3_Missense_Mutation_p.P539S|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 558 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.P558S(2) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GTGGCTCTTGGAATTTGTAAT 0.303000 45 21 0 0 0.003330 0 0 HMCN1 83872 broad.mit.edu 37 1 185970777 185970777 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:185970777C>A uc001grq.1 + 27 4481 c.4252C>A c.(4252-4254)Ctc>Atc p.L1418I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1418 Ig-like C2-type 11. 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 GATACTGAAGCTCTTCAGAGC 0.403000 26 11 0.00136819 0.0016031 0.013537 1 0 CHRNA5 1138 broad.mit.edu 37 15 78882211 78882211 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:78882211T>G uc002bdy.3 + 4 678 c.478T>G c.(478-480)Tgg>Ggg p.W160G NM_000745 NP_000736 P30532 ACHA5_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA. 160 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 CACTGTCACCTGGACTCCACC 0.403000 54 39 0 0 0.013114 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270195 1270195 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:1270195G>A uc002cks.3 + 34 6511 c.6263G>A c.(6262-6264)gGa>gAa p.G2088E CACNA1H_uc002ckt.3_Missense_Mutation_p.G2082E|CACNA1H_uc002cku.3_Missense_Mutation_p.G783E|CACNA1H_uc010brj.3_Missense_Mutation_p.G799E|CACNA1H_uc002ckv.3_Missense_Mutation_p.G777E NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2088 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCCCCAGGCGGAGAGGAGGCC 0.731000 16 19 0 0 0.014323 0 0 PBRM1 55193 broad.mit.edu 37 3 52610695 52610695 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:52610695G>A uc003des.2 - 21 3565 c.3553C>T c.(3553-3555)Cga>Tga p.R1185* PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.R1185*|PBRM1_uc003der.2_Nonsense_Mutation_p.R1153*|PBRM1_uc003det.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.R1185*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R1160*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R1160*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R1184* NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 1185 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding p.R1185*(5)|p.R1153*(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GCTCCATCTCGAACCCATACT 0.338000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 2 26 0 0 0.005443 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441544 1441544 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:1441544C>T uc003jck.3 - 2 474 c.348G>A c.(346-348)atG>atA p.M116I NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 116 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GGGCCAGCTCCATGTAGAAAA 0.577000 29 27 0 0 0.005443 0 0 TRERF1 55809 broad.mit.edu 37 6 42200500 42200500 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:42200500G>A uc003ose.2 - 16 3820 c.3257C>T c.(3256-3258)tCg>tTg p.S1086L TRERF1_uc011duq.1_Missense_Mutation_p.S983L|TRERF1_uc003osb.2_Missense_Mutation_p.S834L|TRERF1_uc003osc.2_Missense_Mutation_p.S822L|TRERF1_uc003osd.2_Missense_Mutation_p.S1066L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 1066 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCTCTTTACCGAACAGTACCC 0.642000 19 23 0 0 0.003330 0 0 PROX1 5629 broad.mit.edu 37 1 214171453 214171453 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:214171453G>A uc001hkh.3 + 1 1847 c.1575G>A c.(1573-1575)agG>agA p.R525R PROX1_uc001hkg.1_Silent_p.R525R NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 525 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CGAGTCTGAGGACCAAGATGT 0.552000 24 54 0 0 0.014410 0 0 NUP98 4928 broad.mit.edu 37 11 3781771 3781771 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:3781771A>G uc001lyh.3 - 9 1593 c.1172T>C c.(1171-1173)tTt>tCt p.F391S NUP98_uc001lyi.3_Missense_Mutation_p.F391S|NUP98_uc001lyj.2_Missense_Mutation_p.F391S|NUP98_uc001lyk.2_Missense_Mutation_p.F391S NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 391 Gly/Thr-rich. DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TTTGTTACCAAAGAGCCCGCC 0.393000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 16 31 0 0 0.010818 0 0 TMEM39B 55116 broad.mit.edu 37 1 32557514 32557514 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:32557514T>C uc010ogv.2 + 5 975 c.829T>C c.(829-831)Ttc>Ctc p.F277L TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Missense_Mutation_p.F150L|TMEM39B_uc001buf.4_Missense_Mutation_p.F78L|TMEM39B_uc010ogw.2_Missense_Mutation_p.F78L NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN Homo sapiens transmembrane protein 39B (TMEM39B), mRNA. 277 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAGGTGGAGTTCCTCAAGAT 0.587000 36 6 0 0 0.001168 0 0 UGT1A1 54658 broad.mit.edu 37 2 234590981 234590981 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:234590981T>C uc002vut.3 + 0 398 c.398T>C c.(397-399)tTa>tCa p.L133S UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.L133S NM_019077 NP_061950 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA. 136 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GACCGAAAATTAGTAGAATAC 0.363000 86 29 0 0 0.005443 0 0 OAS3 4940 broad.mit.edu 37 12 113403830 113403830 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:113403830C>T uc001tug.3 + 11 2772 c.2685C>T c.(2683-2685)gcC>gcT p.A895A NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 895 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CCTTTGACGCCCTAGGTGAGG 0.577000 5 17 0 0 0.002780 0 0 SHE 126669 broad.mit.edu 37 1 154459132 154459132 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:154459132G>A uc001ffb.3 - 3 1076 c.1052C>T c.(1051-1053)tCc>tTc p.S351F SHE_uc001ffc.3_Non-coding_Transcript NM_001010846 NP_001010846 Q5VZ18 SHE_HUMAN Homo sapiens Src homology 2 domain containing E (SHE), mRNA. 351 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CTCCCTGAAGGAAGGTCGCTC 0.542000 44 16 0 0 0.004007 0 0 FLT3 2322 broad.mit.edu 37 13 28589742 28589742 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:28589742C>T uc001urw.3 - 20 2720 c.2638G>A c.(2638-2640)Gaa>Aaa p.E880K FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E839K NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 880 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity 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) GAGAAGATTTCCCACAGTAAT 0.547000 """Mis, O""" """AML, ALL""" 23 22 0 0 0.010504 0 0 TXLNA 200081 broad.mit.edu 37 1 32657917 32657917 + Silent SNP C T T rs140788218 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:32657917C>T uc001bui.3 + 6 1034 c.969C>T c.(967-969)atC>atT p.I323I TXLNA_uc001buj.3_Silent_p.I323I NM_175852 NP_787048 P40222 TXLNA_HUMAN Homo sapiens taxilin alpha (TXLNA), mRNA. 323 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGCAGCATATCGACAAAGTCT 0.587000 73 20 0 0 0.014323 0 0 RP1 6101 broad.mit.edu 37 8 55540928 55540928 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:55540928G>A uc003xsd.1 + 3 4634 c.4486G>A c.(4486-4488)Gaa>Aaa p.E1496K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1496 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) ATTAATCCAAGAAGAGGTAGA 0.313000 34 29 0 0 0.009535 0 0 POLRMT 5442 broad.mit.edu 37 19 621728 621728 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:621728G>A uc002lpf.1 - 9 2026 c.1970C>T c.(1969-1971)tCg>tTg p.S657L NM_005035 NP_005026 O00411 RPOM_HUMAN Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA. 657 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGTGCGGCGATGTCCAGGG 0.682000 20 12 0 0 0.010729 0 0 HAL 3034 broad.mit.edu 37 12 96389530 96389530 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:96389530G>A uc001tem.1 - 1 456 c.159C>T c.(157-159)ttC>ttT p.F53F HAL_uc010sux.1_Silent_p.F53F|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR NM_002108 NP_002099 P42357 HUTH_HUMAN Homo sapiens histidine ammonia-lyase (HAL), mRNA. 53 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) GGCGCACAAGGAAGTGCGCGT 0.637000 5 49 0 0 0.014410 0 0 C2CD3 26005 broad.mit.edu 37 11 73785332 73785332 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:73785332G>A uc001ouu.2 - 23 5144 c.4917C>T c.(4915-4917)atC>atT p.I1639I C2CD3_uc001out.3_Non-coding_Transcript NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 1639 C2 2. centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TTTCTACTAGGATGCTGACTG 0.542000 11 15 0 0 0.007413 0 0 KCND3 3752 broad.mit.edu 37 1 112525204 112525204 + Missense_Mutation SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:112525204G>C uc001ebu.1 - 1 625 c.145C>G c.(145-147)Cgg>Ggg p.R49G KCND3_uc001ebv.1_Missense_Mutation_p.R49G NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 49 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TGGAACCTCCGCCCACTCACG 0.637000 7 20 0 0 0.008871 0 0 DMBT1 1755 broad.mit.edu 37 10 124380647 124380647 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:124380647C>T uc001lgk.1 + 40 5078 c.4972C>T c.(4972-4974)Cga>Tga p.R1658* DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1648*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1030*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1658*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1648*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1030*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1658*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.R361*|DMBT1_uc009yac.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1658 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTCCTGTATCGAGGCTCCTG 0.592000 108 86 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13727742 13727742 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:13727742C>T uc003jfd.2 - 69 11949 c.11907G>A c.(11905-11907)tgG>tgA p.W3969* DNAH5_uc003jfc.2_Nonsense_Mutation_p.W137* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3969 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) ACCAAATTTTCCACATTTTCT 0.383000 Kartagener syndrome 21 21 0 0 0.002780 0 0 MAP4K1 11184 broad.mit.edu 37 19 39096304 39096304 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:39096304C>T uc002oix.1 - 17 1375 c.1267G>A c.(1267-1269)Ggg>Agg p.G423R MAP4K1_uc002oiy.1_Missense_Mutation_p.G423R|MAP4K1_uc010xug.2_Missense_Mutation_p.G85R NM_007181 NP_009112 Q92918 M4K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA. 423 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACCAGCACCCCCGGGCTCAGC 0.652000 13 8 0 0 0.006214 0 0 ATP9A 10079 broad.mit.edu 37 20 50290724 50290724 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:50290724G>A uc002xwg.1 - 10 1005 c.1005C>T c.(1003-1005)ttC>ttT p.F335F ATP9A_uc010gih.1_Silent_p.F199F|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 335 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ACAAGAGGAGGAAGCGGATGA 0.517000 34 23 0 0 0.004656 0 0 ABCA10 10349 broad.mit.edu 37 17 67189662 67189662 + Missense_Mutation SNP A T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:67189662A>T uc010dfa.1 - 14 2492 c.1613T>A c.(1612-1614)cTa>cAa p.L538Q ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.L139Q NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 538 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) GGCAATCCCTAGTGTTAGTTT 0.303000 0 20 0 0 0.002780 0 0 CDSN 1041 broad.mit.edu 37 6 31084720 31084720 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:31084720G>A uc003nsm.2 - 1 728 c.672C>T c.(670-672)gaC>gaT p.D224D PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 224 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TGCAGGGAGAGTCGGGGATGT 0.627000 28 29 0 0 0.008361 0 0 PRSS42 339906 broad.mit.edu 37 3 46874545 46874545 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:46874545G>A uc011bap.2 - 2 523 c.523C>T c.(523-525)Cct>Tct p.P175S PRSS42_uc003cqj.3_Missense_Mutation_p.P71S NM_182702 NP_874361 Q7Z5A4 PRS42_HUMAN Homo sapiens protease, serine, 42 (PRSS42), mRNA. 175 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.P175P(1) breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 AAATTCACAGGATGTTGGAGC 0.498000 8 37 0 0 0.004289 0 0 DNAH8 1769 broad.mit.edu 37 6 38854576 38854576 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:38854576G>A uc021yzh.1 + 56 8378 c.8269G>A c.(8269-8271)Gag>Aag p.E2757K DNAH8_uc003ooe.2_Missense_Mutation_p.E2540K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GATAACTAATGAGATTGTGCG 0.348000 30 11 0 0 0.010729 0 0 TARSL2 123283 broad.mit.edu 37 15 102194903 102194903 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:102194903G>A uc002bxm.3 - 18 2346 c.2291C>T c.(2290-2292)gCt>gTt p.A764V TARSL2_uc002bxl.3_3'UTR|TARSL2_uc010usi.2_Non-coding_Transcript|TM2D3_uc010usg.1_5'Flank|TM2D3_uc002bxi.3_5'Flank|TM2D3_uc002bxj.3_5'Flank|TM2D3_uc010ush.1_5'Flank NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA. 764 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CACGTTTACAGCATTATCTAT 0.358000 15 10 0 0 0.013537 0 0 NLRP8 126205 broad.mit.edu 37 19 56466477 56466477 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:56466477C>T uc002qmh.3 + 2 1124 c.1053C>T c.(1051-1053)ctC>ctT p.L351L NLRP8_uc010etg.3_Silent_p.L351L NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 351 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTCCCTCTCTCGTAACCCTTC 0.463000 47 30 0 0 0.012213 0 0 LOC646214 646214 broad.mit.edu 37 15 21937983 21937983 + RNA SNP C A A rs141885846 by1000genomes TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:21937983C>A uc010tzj.1 - 0 c.2757G>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TATGCCTGGGCTTTTTCTCCT 0.448000 576 23 7.88262e-20 9.45915e-20 0.003330 1 0 TTN 7273 broad.mit.edu 37 2 179598097 179598097 + Missense_Mutation SNP C T T rs146847928 by1000genomes TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179598097C>T uc021vsy.1 - 50 12416 c.12191G>A c.(12190-12192)cGa>cAa p.R4064Q TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R725Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4991 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) AAAACTTATTCGGTATTTTTT 0.473000 63 19 0 0 0.006122 0 0 ODZ3 55714 broad.mit.edu 37 4 183601472 183601472 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:183601472C>T uc003ivd.1 + 7 1684 c.1609C>T c.(1609-1611)Cca>Tca p.P537S ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 537 EGF-like 1. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCATTGTTTTCCAGGATTTCT 0.408000 3 15 0 0 0.004007 0 0 OR13C9 286362 broad.mit.edu 37 9 107380129 107380129 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:107380129G>A uc011lvr.2 - 0 357 c.357C>T c.(355-357)gcC>gcT p.A119A NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 AGCGGTCAAAGGCCATCATGC 0.502000 7 59 0 0 0.014410 0 0 KCNB1 3745 broad.mit.edu 37 20 47990547 47990547 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:47990547G>A uc002xur.1 - 1 1716 c.1550C>T c.(1549-1551)tCg>tTg p.S517L KCNB1_uc002xus.1_Missense_Mutation_p.S517L NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 517 Poly-Ser. energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACTAGAAGACGATCTGGCTTT 0.463000 147 122 0 0 0.014410 0 0 CHAT 1103 broad.mit.edu 37 10 50828603 50828603 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:50828603C>T uc001jhz.2 + 3 795 c.642C>T c.(640-642)tcC>tcT p.S214S CHAT_uc001jhv.1_Silent_p.S96S|CHAT_uc001jhx.1_Silent_p.S96S|CHAT_uc001jhy.1_Silent_p.S96S|CHAT_uc001jia.2_Silent_p.S132S|CHAT_uc010qgs.1_Silent_p.S96S NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 214 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTGTCAACTCCAGCCCTGCCG 0.617000 20 19 0 0 0.008871 0 0 LILRA1 11024 broad.mit.edu 37 19 55087514 55087514 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:55087514C>T uc010ern.3 + 6 1662 c.1193C>T c.(1192-1194)tCa>tTa p.S398L LILRA1_uc002qgg.4_Missense_Mutation_p.S398L|LILRA1_uc002qgf.3_Missense_Mutation_p.S398L|LILRA1_uc010yfe.1_Missense_Mutation_p.S398L|LILRA1_uc010yff.1_Missense_Mutation_p.S386L|LILRA1_uc010ero.3_Missense_Mutation_p.S386L|LILRA1_uc010yfg.1_Intron O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 400 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGCTACAGCTCACTCAGCTCC 0.597000 43 28 0 0 0.008361 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21471798 21471798 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:21471798C>T uc001rer.3 - 1 371 c.120G>A c.(118-120)atG>atA p.M40I SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.M40I|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_Intron|SLCO1A2_uc001ret.3_Missense_Mutation_p.M38I|SLCO1A2_uc001reu.2_Missense_Mutation_p.M20I NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 40 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.M40T(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GCATGGAATTCATATAAGATC 0.308000 36 37 0 0 0.003271 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111794228 111794228 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:111794228G>A uc010hqb.2 + 12 1636 c.1466G>A c.(1465-1467)gGg>gAg p.G489E TMPRSS7_uc011bhr.1_Missense_Mutation_p.G344E NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 615 LDL-receptor class A 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ACCCTGGAGGGGGGTTGGCCG 0.567000 83 69 0 0 0.014410 0 0 TPTE 7179 broad.mit.edu 37 21 10914419 10914419 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:10914419G>A uc002yip.1 - 20 1668 c.1300C>T c.(1300-1302)Caa>Taa p.Q434* TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.Q416*|TPTE_uc002yir.1_Nonsense_Mutation_p.Q396*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Q296* NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 434 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S434L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTTCTATTTGGATTTTTAGA 0.313000 10 5 0 0 0.000602 0 0 DNAH5 1767 broad.mit.edu 37 5 13701415 13701415 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:13701415C>T uc003jfd.2 - 76 13511 c.13469G>A c.(13468-13470)gGa>gAa p.G4490E DNAH5_uc003jfc.2_Missense_Mutation_p.G658E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4490 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.G4490G(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTTAAAAATCCCTGGGGGTT 0.408000 Kartagener syndrome 38 35 0 0 0.004289 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951096 119951096 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:119951096C>T uc010inb.3 + 3 1362 c.1166C>T c.(1165-1167)cCc>cTc p.P389L SYNPO2_uc010ina.3_Missense_Mutation_p.P389L|SYNPO2_uc003icm.4_Missense_Mutation_p.P389L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P317L|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 389 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCTCCCAACCCCAACTCCAAG 0.512000 9 45 0 0 0.014410 0 0 MLL3 58508 broad.mit.edu 37 7 151945102 151945102 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:151945102G>A uc003wla.3 - 13 2636 c.2417C>T c.(2416-2418)tCc>tTc p.S806F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 806 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.S806S(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCCAGCAGAGGAACTAAGAGC 0.438000 N medulloblastoma 526 21 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9069683 9069683 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9069683C>T uc002mkp.3 - 2 17967 c.17763G>A c.(17761-17763)gtG>gtA p.V5921V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5923 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 TGGTTTCTTCCACAGAGGGAG 0.498000 38 32 0 0 0.009535 0 0 LMNA 4000 broad.mit.edu 37 1 156084914 156084914 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:156084914G>A uc001fni.2 + 0 454 c.205G>A c.(205-207)Gtg>Atg p.V69M LMNA_uc001fnf.1_Missense_Mutation_p.V69M|LMNA_uc001fng.2_Missense_Mutation_p.V69M|LMNA_uc001fnh.2_Missense_Mutation_p.V69M|LMNA_uc009wro.1_Missense_Mutation_p.V69M NM_170707 NP_733821 P02545 LMNA_HUMAN Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. 69 Coil 1A.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GTCTGAAGAGGTGGTCAGCCG 0.652000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 72 156 0 0 0.014410 0 0 COL4A4 1286 broad.mit.edu 37 2 227920702 227920702 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:227920702G>A uc021vxr.1 - 28 2776 c.2675C>T c.(2674-2676)cCc>cTc p.P892L COL4A4_uc021vxs.1_Missense_Mutation_p.P892L NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 892 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATCTCCAAAGGGACCTGGGAT 0.592000 17 32 0 0 0.010818 0 0 DUOX2 50506 broad.mit.edu 37 15 45389836 45389836 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:45389836G>A uc001zun.3 - 27 3872 c.3669C>T c.(3667-3669)caC>caT p.H1223H DUOX2_uc010bea.3_Silent_p.H1223H NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1223 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGATGTAGAGGTGGTGGGTCA 0.612000 66 55 0 0 0.014410 0 0 OR4K2 390431 broad.mit.edu 37 14 20344533 20344533 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:20344533T>C uc001vwh.1 + 0 107 c.107T>C c.(106-108)gTg>gCg p.V36A NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y35*(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGCTTTATGTGGCAACAATG 0.408000 15 92 0 0 0.014410 0 0 MX2 4600 broad.mit.edu 37 21 42754398 42754398 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:42754398C>T uc002yzf.1 + 4 743 c.639C>T c.(637-639)atC>atT p.I213I MX2_uc011aer.1_Non-coding_Transcript NM_002463 NP_002454 P20592 MX2_HUMAN Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA. 213 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) GCCTGGAGATCACCTCCCCTG 0.617000 33 16 0 0 0.003163 0 0 OR2M2 391194 broad.mit.edu 37 1 248343836 248343836 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:248343836C>T uc010pzf.2 + 0 549 c.549C>T c.(547-549)tcC>tcT p.S183S NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) AATTCCCTTCCCTACTAATCC 0.413000 132 27 0 0 0.005443 0 0 OR2C3 81472 broad.mit.edu 37 1 247695748 247695748 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:247695748G>A uc021pmb.1 - 0 66 c.66C>T c.(64-66)ccC>ccT p.P22P C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.P22P NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TTTCTAGTGAGGGTCGTGTGG 0.488000 27 7 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9083474 9083474 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9083474C>T uc002mkp.3 - 0 8545 c.8341G>A c.(8341-8343)Gag>Aag p.E2781K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2781 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E2781Q(3) 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 GATGCCCTCTCAAGCCCAGCT 0.493000 22 22 0 0 0.003330 0 0 C10orf2 56652 broad.mit.edu 37 10 102753064 102753064 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:102753064C>T uc001ksf.2 + 4 2527 c.1852C>T c.(1852-1854)Ccg>Tcg p.P618S C10orf2_uc010qpv.1_Missense_Mutation_p.P164S|C10orf2_uc001ksg.2_3'UTR|C10orf2_uc001ksi.2_3'UTR|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 618 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGTGTCTTCCCGCTTGAGTT 0.517000 33 26 0 0 0.008361 0 0 CSMD1 64478 broad.mit.edu 37 8 3265485 3265485 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:3265485T>C uc022aqr.1 - 13 2397 c.2007A>G c.(2005-2007)atA>atG p.I669M CSMD1_uc011kwj.2_Missense_Mutation_p.I62M NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 670 CUB 4. 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) CCAAGCGAACTATATGCCCAC 0.483000 19 8 0 0 0.003080 0 0 DEFB116 245930 broad.mit.edu 37 20 29891093 29891093 + Silent SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:29891093A>G uc010ztm.2 - 1 231 c.231T>C c.(229-231)agT>agC p.S77S NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN Homo sapiens defensin, beta 116 (DEFB116), mRNA. 77 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CATTTTTAGAACTGGTTATTT 0.398000 114 74 0 0 0.014410 0 0 COL9A1 1297 broad.mit.edu 37 6 70978560 70978560 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:70978560G>A uc003pfg.4 - 16 1393 c.1234C>T c.(1234-1236)Ccc>Tcc p.P412S COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.P169S NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 412 Nonhelical region (NC3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CAGGCATTGGGACACTGCCAG 0.453000 4 28 0 0 0.008361 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52129336 52129336 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:52129336C>T uc002pxe.3 - 7 1552 c.1413G>A c.(1411-1413)ggG>ggA p.G471G NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 471 cell adhesion integral to membrane sugar binding p.G471R(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TCTCTGGTCTCCCAGCTGCTT 0.542000 37 21 0 0 0.002780 0 0 LAMC1 3915 broad.mit.edu 37 1 183093825 183093825 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:183093825C>T uc001gpy.4 + 13 2718 c.2461C>T c.(2461-2463)Cct>Tct p.P821S NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 821 Laminin EGF-like 7. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGAAACGGCCCTGTGAGACT 0.498000 45 12 0 0 0.013537 0 0 GRM7 2917 broad.mit.edu 37 3 7620138 7620138 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:7620138C>T uc003bqm.2 + 7 1819 c.1545C>T c.(1543-1545)gtC>gtT p.V515V GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V515V|GRM7_uc003bql.2_Silent_p.V515V|GRM7_uc003bqn.1_Silent_p.V98V|GRM7_uc010hch.1_Silent_p.V26V NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 515 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GTAAAGGAGTCCGAGAGATAC 0.463000 17 13 0 0 0.013537 0 0 MLL2 8085 broad.mit.edu 37 19 36217192 36217192 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:36217192G>A uc021usv.1 + 13 3941 c.3941G>A c.(3940-3942)tGg>tAg p.W1314* MLL2_uc021usu.1_Nonsense_Mutation_p.W128* NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 1487 Arg-rich. 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 GGCAAGAACTGGGACGTCGAG 0.607000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 32 26 0 0 0.003755 0 0 YEATS4 8089 broad.mit.edu 37 12 69759659 69759659 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:69759659A>G uc001sux.3 + 3 549 c.328A>G c.(328-330)Aga>Gga p.R110G NM_006530 NP_006521 O95619 YETS4_HUMAN Homo sapiens YEATS domain containing 4 (YEATS4), mRNA. 110 YEATS. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) CCCTAATGAAAGACCTGTGAG 0.284000 5 22 0 0 0.012319 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630948 74630949 + Missense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:74630948_74630949CC>TT uc002axt.2 - 7 1552_1553 c.1397_1398GG>AA c.(1396-1398)cgg>cAA p.R466Q CYP11A1_uc002axs.2_Missense_Mutation_p.R308Q|CYP11A1_uc010bjm.1_Missense_Mutation_p.R308Q|CYP11A1_uc010bjn.1_Non-coding_Transcript NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 466 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCTCAGCGATCCGCCGTCCCAG 0.554000 35 30 0 0 0.004672 0 0 MGAM 8972 broad.mit.edu 37 7 141736730 141736730 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:141736730C>T uc003vwy.3 + 17 2238 c.2184C>T c.(2182-2184)ttC>ttT p.F728F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 728 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCCTCTTCTTCCGTGCTCACA 0.488000 309 128 0 0 0.014410 0 0 GRM8 2918 broad.mit.edu 37 7 126249496 126249496 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:126249496C>T uc003vlr.2 - 6 1725 c.1414G>A c.(1414-1416)Gat>Aat p.D472N GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.D472N|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 472 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGGAAGATATCATAACGTCCA 0.368000 HNSCC(24;0.065) 40 82 0 0 0.014410 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713007 70713007 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:70713007G>A uc010ttg.2 - 0 1512 c.861C>T c.(859-861)ttC>ttT p.F287F Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. CTGATGGCATGAATTTGCAGT 0.483000 2 14 0 0 0.002450 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579277 44579277 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:44579277A>G uc003tlb.3 - 1 775 c.719T>C c.(718-720)gTt>gCt p.V240A NPC1L1_uc011kbw.2_Missense_Mutation_p.V240A|NPC1L1_uc003tlc.3_Missense_Mutation_p.V240A|NPC1L1_uc003tld.3_Missense_Mutation_p.V240A NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 240 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCAACGTGCAACCCCCTCATT 0.632000 23 28 0 0 0.006320 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968221 35968221 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:35968221C>T uc003jjv.2 - 2 404 c.211G>A c.(211-213)Gaa>Aaa p.E71K UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.E71K|UGT3A1_uc011cor.2_Missense_Mutation_p.E37K|UGT3A1_uc003jjy.2_Missense_Mutation_p.E17K NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 71 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TATGATTTTTCCTCCTCTTTA 0.299000 21 13 0 0 0.013537 0 0 MYRIP 25924 broad.mit.edu 37 3 40211497 40211497 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:40211497G>A uc003cka.3 + 7 921 c.786G>A c.(784-786)tgG>tgA p.W262* MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Nonsense_Mutation_p.W262*|MYRIP_uc010hhw.3_Nonsense_Mutation_p.W173*|MYRIP_uc011ayz.2_Nonsense_Mutation_p.W75* NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 262 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGCCAGGATGGCCACATCCCC 0.567000 3 19 0 0 0.010504 0 0 COL22A1 169044 broad.mit.edu 37 8 139642950 139642950 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:139642950G>A uc003yvd.3 - 49 4098 c.3651C>T c.(3649-3651)atC>atT p.I1217I COL22A1_uc011ljo.2_Silent_p.I497I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1217 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) GTGACCCTTGGATTCCTGGTG 0.473000 HNSCC(7;0.00092) 99 65 0 0 0.014410 0 0 GEM 2669 broad.mit.edu 37 8 95272505 95272505 + Missense_Mutation SNP T A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:95272505T>A uc003ygi.3 - 1 351 c.227A>T c.(226-228)tAc>tTc p.Y76F GEM_uc003ygj.3_Missense_Mutation_p.Y76F NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 76 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) CACCACTCGGTAGTAGGTGTT 0.597000 31 22 0 0 0.014323 0 0 MYL2 4633 broad.mit.edu 37 12 111348978 111348978 + Splice_Site SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:111348978A>G uc001try.4 - 7 474 c.403_splice c.e7-1 p.V135_splice MYL2_uc001trx.4_Splice_Site_p.V116_splice NM_000432 NP_000423 P10916 MLRV_HUMAN Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA. 135 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 CATCTGGTCAACCTGCAATGA 0.612000 7 62 0 0 0.014410 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899855 4899855 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:4899855G>A uc003snk.3 - 0 1771 c.1587C>T c.(1585-1587)ggC>ggT p.G529G RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA. 528 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TGTTTTCACAGCCTGCAGACA 0.468000 44 32 0 0 0.012213 0 0 ROBO3 64221 broad.mit.edu 37 11 124748575 124748575 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:124748575G>A uc001qbc.3 + 22 3585 c.3416G>A c.(3415-3417)aGg>aAg p.R1139K ROBO3_uc001qbd.2_Missense_Mutation_p.R64K|ROBO3_uc010sar.2_Missense_Mutation_p.R188K|ROBO3_uc001qbe.3_Missense_Mutation_p.R64K|ROBO3_uc001qbf.1_Missense_Mutation_p.R23K NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 1139 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CCATCCCGAAGGGAAACCCCC 0.632000 2 16 0 0 0.004007 0 0 SPTBN4 57731 broad.mit.edu 37 19 41000807 41000807 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:41000807C>T uc002ony.3 + 5 677 c.591C>T c.(589-591)taC>taT p.Y197Y SPTBN4_uc002onx.3_Silent_p.Y197Y|SPTBN4_uc002onz.3_Silent_p.Y197Y NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 197 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) cttccAGTTACCCTGAGGTAA 0.547000 30 13 0 0 0.002450 0 0 ZNF71 58491 broad.mit.edu 37 19 57132840 57132840 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:57132840C>T uc002qnm.4 + 2 423 c.185C>T c.(184-186)cCc>cTc p.P62L ZNF71_uc021vcg.1_Missense_Mutation_p.P62L NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) TTGGGAATTCCCCAGGGGAAC 0.617000 14 9 0 0 0.004482 0 0 ANO2 57101 broad.mit.edu 37 12 5848488 5848488 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:5848488C>T uc001qnm.2 - 12 1489 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 478 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.E473G(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CTCACTTCTTCCTCTTCTATG 0.433000 2 8 0 0 0.004482 0 0 RP1 6101 broad.mit.edu 37 8 55539216 55539216 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:55539216C>T uc003xsd.1 + 3 2922 c.2774C>T c.(2773-2775)cCa>cTa p.P925L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 925 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) AACATAAATCCATATCCAACT 0.333000 23 13 0 0 0.013537 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269283 150269283 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:150269283G>A uc003whl.3 + 2 207 c.125G>A c.(124-126)gGa>gAa p.G42E GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.G56E NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 42 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCGGAGCAGGAAAAAGTGCA 0.463000 65 23 0 0 0.014323 0 0 ANK1 286 broad.mit.edu 37 8 41530399 41530399 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:41530399G>A uc003xok.3 - 37 4653 c.4569C>T c.(4567-4569)tcC>tcT p.S1523S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.S1523S|ANK1_uc003xoj.3_Silent_p.S1523S|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.S1564S NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1523 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) GGGAGGCAGGGGACAGCAGCT 0.622000 17 6 0 0 0.001984 0 0 PCM1 5108 broad.mit.edu 37 8 17843498 17843498 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:17843498C>T uc022asj.1 + 24 4451 c.4429C>T c.(4429-4431)Cat>Tat p.H1477Y PCM1_uc003wyi.4_Missense_Mutation_p.H1438Y|PCM1_uc011kyh.2_Missense_Mutation_p.H1438Y|PCM1_uc003wyj.4_Missense_Mutation_p.H1384Y|PCM1_uc011kyi.2_Missense_Mutation_p.H245Y|PCM1_uc011kyj.2_Missense_Mutation_p.H194Y|PCM1_uc003wyk.4_Missense_Mutation_p.H120Y|PCM1_uc011kyk.2_Missense_Mutation_p.H62Y NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1438 Interaction with HAP1. G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TTCTGAGAGCCATGAAAAAGG 0.318000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 20 22 0 0 0.012319 0 0 C9 735 broad.mit.edu 37 5 39341799 39341799 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:39341799G>A uc003jlv.4 - 2 276 c.187C>T c.(187-189)Cgt>Tgt p.R63C NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 63 TSP type-1. 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) CTTCTTGAACGAAACTGCACA 0.438000 25 18 0 0 0.008871 0 0 RGS12 6002 broad.mit.edu 37 4 3319513 3319513 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:3319513C>T uc003ggw.3 + 1 2520 c.1616C>T c.(1615-1617)cCg>cTg p.P539L RGS12_uc003ggu.2_Missense_Mutation_p.P539L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.P539L|RGS12_uc003ggx.1_Missense_Mutation_p.P539L NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 539 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGCTGGCTCCCGGTCCACGTG 0.637000 16 13 0 0 0.001855 0 0 CLDND2 125875 broad.mit.edu 37 19 51870410 51870410 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:51870410G>A uc002pwi.1 - 3 916 c.490C>T c.(490-492)Ccc>Tcc p.P164S ETFB_uc002pwh.3_5'Flank NM_152353 NP_689566 Q8NHS1 CLDN2_HUMAN Homo sapiens claudin domain containing 2 (CLDND2), mRNA. 164 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGACACACGGGGAATCCACTG 0.622000 31 22 0 0 0.004656 0 0 EPS15 2060 broad.mit.edu 37 1 51934234 51934234 + Missense_Mutation SNP A C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:51934234A>C uc001csq.1 - 4 312 c.220T>G c.(220-222)Ttt>Gtt p.F74V EPS15_uc009vyz.1_Missense_Mutation_p.F74V NM_001981 NP_001972 P42566 EPS15_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA. 74 EH 1. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane SH3 domain binding|calcium ion binding p.F73L(1)|p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 AAAGCAACAAAGAATTCCTAA 0.373000 T MLL ALL 32 12 0 0 0.001855 0 0 POTEC 388468 broad.mit.edu 37 18 14543037 14543037 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:14543037C>T uc010dln.3 - 0 563 c.109G>A c.(109-111)Ggg>Agg p.G37R POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 37 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGCCGCTCCCCTTGCAGCAG 0.557000 69 43 0 0 0.014410 0 0 DDX60L 91351 broad.mit.edu 37 4 169322109 169322109 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:169322109C>T uc021xuh.1 - 24 3469 c.3359G>A c.(3358-3360)gGa>gAa p.G1120E DDX60L_uc003irq.4_Missense_Mutation_p.G1120E|DDX60L_uc003irr.1_Missense_Mutation_p.G1120E|DDX60L_uc003irs.1_Missense_Mutation_p.G815E NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 1120 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) AGCTCTTTTTCCCACATCATC 0.348000 1 19 0 0 0.003954 0 0 KLHL22 84861 broad.mit.edu 37 22 20819329 20819329 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:20819329G>A uc002zsl.2 - 3 1085 c.928C>T c.(928-930)Ccg>Tcg p.P310S KLHL22_uc011ahr.2_Missense_Mutation_p.P167S NM_032775 NP_116164 Q53GT1 KLH22_HUMAN Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA. 310 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ACAGTGGACGGCGTGGAGTGA 0.637000 81 38 0 0 0.003755 0 0 LOC646214 646214 broad.mit.edu 37 15 21937897 21937897 + RNA SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:21937897G>A uc010tzj.1 - 0 c.2843C>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. AAAATCAGATGGAGGAGAAAT 0.433000 439 40 0 0 0.006999 0 0 NCOA6 23054 broad.mit.edu 37 20 33331098 33331098 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:33331098G>A uc002xav.3 - 11 5533 c.2962C>T c.(2962-2964)Cct>Tct p.P988S NCOA6_uc002xaw.3_Missense_Mutation_p.P988S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P988S|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 988 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATGAGTTGAGGAGGCATCTGC 0.532000 31 35 0 0 0.003271 0 0 SCO1 6341 broad.mit.edu 37 17 10596221 10596221 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:10596221G>A uc002gmr.4 - 2 483 c.422C>T c.(421-423)tCc>tTc p.S141F NM_004589 NP_004580 O75880 SCO1_HUMAN Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA. 141 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 AGTTGTGAGGGAAAACGGTCC 0.443000 3 27 0 0 0.005443 0 0 CSMD1 64478 broad.mit.edu 37 8 3200845 3200845 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:3200845G>A uc022aqr.1 - 22 3992 c.3602C>T c.(3601-3603)aCc>aTc p.T1201I CSMD1_uc011kwj.2_Missense_Mutation_p.T594I|CSMD1_uc003wqe.3_Missense_Mutation_p.T358I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1202 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) ACCTTGGTCGGTGTCAGATCC 0.418000 34 35 0 0 0.006999 0 0 C15orf2 23742 broad.mit.edu 37 15 24922025 24922025 + Silent SNP G A A rs142610787 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:24922025G>A uc001ywo.3 + 0 1485 c.1011G>A c.(1009-1011)ccG>ccA p.P337P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 337 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.P337L(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) TGCTGCTGCCGCTGCCCCCTT 0.577000 28 25 0 0 0.006320 0 0 MUC16 94025 broad.mit.edu 37 19 9077007 9077007 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9077007C>T uc002mkp.3 - 2 10643 c.10439G>A c.(10438-10440)gGa>gAa p.G3480E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3481 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 GCTTGTTTTTCCTCCTGAGGG 0.488000 17 18 0 0 0.006122 0 0 ATP1A3 478 broad.mit.edu 37 19 42490289 42490289 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:42490289G>A uc002osh.3 - 4 604 c.450C>T c.(448-450)tcC>tcT p.S150S ATP1A3_uc010xwf.2_Silent_p.S161S|ATP1A3_uc010xwg.2_Silent_p.S120S|ATP1A3_uc002osg.3_Silent_p.S150S|ATP1A3_uc010xwh.2_Silent_p.S163S P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 150 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGTTCTTGAAGGACTCCATGA 0.632000 65 32 0 0 0.004289 0 0 FSIP2 401024 broad.mit.edu 37 2 186671159 186671159 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:186671159C>T uc002upl.3 + 16 17393 c.17393C>T c.(17392-17394)cCc>cTc p.P5798L FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GACCAAAGCCCCCCAGGTGAT 0.338000 21 33 0 0 0.004878 0 0 ACADSB 36 broad.mit.edu 37 10 124797320 124797320 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:124797320C>T uc001lhb.3 + 2 377 c.260C>T c.(259-261)tCg>tTg p.S87L ACADSB_uc010qub.2_Intron NM_001609 NP_001600 P45954 ACDSB_HUMAN Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA. 87 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding p.S87L(2) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) GATGAAAATTCGAAAATGGAG 0.313000 37 28 0 0 0.010818 0 0 ZFP28 140612 broad.mit.edu 37 19 57060391 57060391 + Silent SNP A G G rs143915055 byFrequency TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:57060391A>G uc002qnj.3 + 4 659 c.588A>G c.(586-588)ctA>ctG p.L196L ZFP28_uc002qni.3_Silent_p.L196L|BX647249_uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AAGGAAAGCTATCCCAGGCAG 0.438000 24 11 0 0 0.010729 0 0 X97876 0 broad.mit.edu 37 9 66499794 66499794 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:66499794C>T uc004aee.1 + 0 604 c.604C>T c.(604-606)Cgc>Tgc p.R202C X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). GTGCAAGTCGCGCAAGGAGCA 0.587000 33 5 0 0 0.008291 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58285160 58285160 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:58285160C>T uc002aex.3 - 5 940 c.667G>A c.(667-669)Gga>Aga p.G223R ALDH1A2_uc010ugv.2_Missense_Mutation_p.G202R|ALDH1A2_uc002aey.3_Missense_Mutation_p.G223R|ALDH1A2_uc010ugw.2_Missense_Mutation_p.G194R|ALDH1A2_uc002aew.3_Missense_Mutation_p.G127R NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 223 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ATGAGGGCTCCCATGTAGAGT 0.483000 54 40 0 0 0.007835 0 0 GALNT11 63917 broad.mit.edu 37 7 151791498 151791498 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:151791498C>T uc010lqg.1 + 1 416 c.186C>T c.(184-186)ggC>ggT p.G62G GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.G62G|GALNT11_uc003wkv.1_Silent_p.G62G|GALNT11_uc011kvn.1_Non-coding_Transcript NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA. 62 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TCACTCGAGGCCCAAGTCGAG 0.483000 76 31 0 0 0.012213 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280841 105280841 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:105280841G>A uc010npd.3 - 0 444 c.209C>T c.(208-210)cCt>cTt p.P70L SERPINA7_uc004eme.2_Missense_Mutation_p.P70L|SERPINA7_uc010npe.2_Missense_Mutation_p.P70L NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 70 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) AATGCTCACAGGGGAAAAGAA 0.483000 1 34 0 0 0.010818 0 0 ZNF92 168374 broad.mit.edu 37 7 64852833 64852833 + Missense_Mutation SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:64852833G>T uc003ttz.3 + 1 165 c.22G>T c.(22-24)Gat>Tat p.D8Y ZNF92_uc003tua.3_Intron|ZNF92_uc010kzu.3_Missense_Mutation_p.D8Y|ZNF92_uc003tub.3_Intron NM_152626 NP_009070 Q03936 ZNF92_HUMAN Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA. 8 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) GACATTTAGGGATGTGAAAAT 0.403000 55 21 1.55795e-14 1.86204e-14 0.012319 1 0 SLC30A8 169026 broad.mit.edu 37 8 118184799 118184799 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:118184799T>C uc003yoh.3 + 7 1219 c.989T>C c.(988-990)gTt>gCt p.V330A SLC30A8_uc010mcz.3_Missense_Mutation_p.V281A|SLC30A8_uc003yog.3_Missense_Mutation_p.V281A|SLC30A8_uc011lia.2_Missense_Mutation_p.V281A|SLC30A8_uc022bab.1_Missense_Mutation_p.V281A NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 330 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.V329V(2)|p.V330L(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGCCAAGTGGTTCGGAGAGAA 0.507000 148 112 0 0 0.014410 0 0 CTNND2 1501 broad.mit.edu 37 5 11565150 11565150 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:11565150G>A uc003jfa.1 - 2 338 c.193C>T c.(193-195)Ctg>Ttg p.L65L CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 65 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCTCGGGTCAGCCTTTCAAAC 0.493000 14 7 0 0 0.001984 0 0 ZIM3 114026 broad.mit.edu 37 19 57646302 57646302 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:57646302C>T uc002qnz.1 - 4 1789 c.1403G>A c.(1402-1404)aGa>aAa p.R468K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R468I(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGTGAATTCTTTTCTGGTG 0.423000 62 42 0 0 0.013114 0 0 OR4K15 81127 broad.mit.edu 37 14 20444070 20444070 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:20444070C>T uc010tkx.2 + 0 393 c.393C>T c.(391-393)ttC>ttT p.F131F NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCATCTCTTCACTGGCAGTG 0.453000 9 62 0 0 0.014410 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056587 120056587 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:120056587G>A uc001ehv.1 + 3 586 c.441G>A c.(439-441)ctG>ctA p.L147L NM_000862 NP_000853 P14060 3BHS1_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA. 147 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) AAGAGCCTCTGGAAAACACAT 0.527000 30 59 0 0 0.014410 0 0 TTC39B 158219 broad.mit.edu 37 9 15191202 15191202 + Missense_Mutation SNP A C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:15191202A>C uc003zlr.2 - 9 1019 c.982T>G c.(982-984)Ttt>Gtt p.F328V TTC39B_uc003zlq.2_Missense_Mutation_p.F231V|TTC39B_uc011lmp.2_Missense_Mutation_p.F163V|TTC39B_uc010mie.2_Missense_Mutation_p.F326V|TTC39B_uc011lmr.2_Missense_Mutation_p.F259V|TTC39B_uc011lmq.2_Missense_Mutation_p.F328V|TTC39B_uc010mif.2_Missense_Mutation_p.F328V|TTC39B_uc003zls.1_Missense_Mutation_p.F163V|TTC39B_uc010mig.1_Missense_Mutation_p.F231V|TTC39B_uc011lms.2_Non-coding_Transcript NM_152574 NP_001161814 Q5VTQ0 TT39B_HUMAN Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA. 262 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 TTCCCAGAAAATCCAATAAAT 0.323000 2 10 0 0 0.010729 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217497 150217497 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:150217497C>T uc003whk.3 + 1 565 c.435C>T c.(433-435)ttC>ttT p.F145F GIMAP7_uc022apu.1_Silent_p.F145F NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 145 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCATGACTTCATAGCAGATG 0.502000 54 26 0 0 0.003954 0 0 TIGD3 220359 broad.mit.edu 37 11 65123630 65123630 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:65123630C>T uc021qlj.1 + 0 351 c.351C>T c.(349-351)ttC>ttT p.F117F TIGD3_uc001odo.4_Silent_p.F117F NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 117 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GCCAGGACTTCGTGCCCAGCA 0.642000 13 31 0 0 0.008361 0 0 HYDIN 54768 broad.mit.edu 37 16 70891649 70891649 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:70891649G>A uc002ezr.3 - 71 12402 c.12251C>T c.(12250-12252)tCt>tTt p.S4084F HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4085 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) CTTGTTCAGAGAGATGAGAGG 0.483000 36 13 0 0 0.002450 0 0 BAG3 9531 broad.mit.edu 37 10 121429450 121429450 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:121429450C>T uc001lem.3 + 1 574 c.268C>T c.(268-270)Cga>Tga p.R90* BAG3_uc001lel.3_Nonsense_Mutation_p.R90* NM_004281 NP_004272 O95817 BAG3_HUMAN Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA. 90 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) CCCCCAGCTCCGACCAGGCTA 0.602000 41 24 0 0 0.003330 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629291 1629291 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:1629291C>T uc001ltw.1 - 0 403 c.325G>A c.(325-327)Ggg>Agg p.G109R MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 109 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCACAGACCCCCTTGGAACCC 0.662000 39 17 0 0 0.007413 0 0 PM20D1 148811 broad.mit.edu 37 1 205814473 205814473 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:205814473C>T uc001hdj.3 - 2 545 c.469G>A c.(469-471)Gac>Aac p.D157N PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 157 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TTCTTGTCGTCCAGTGTGCCC 0.577000 16 21 0 0 0.010504 0 0 FOXD4 2298 broad.mit.edu 37 9 117694 117694 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:117694G>A uc003zfz.3 - 0 724 c.426C>T c.(424-426)cgC>cgT p.R142R NM_207305 NP_997188 Q12950 FOXD4_HUMAN Homo sapiens forkhead box D4 (FOXD4), mRNA. 142 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGAACTTGCGGCGGTAGTAGG 0.642000 12 60 0 0 0.014410 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602610 96602610 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:96602610G>A uc010qnz.2 + 6 978 c.978G>A c.(976-978)gaG>gaA p.E326E CYP2C19_uc010qny.2_Silent_p.E304E NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 326 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.E326Q(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCAGGAAGAGATTGAACGTG 0.488000 34 22 0 0 0.005443 0 0 RGS9 8787 broad.mit.edu 37 17 63221400 63221400 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:63221400C>T uc002jfe.3 + 17 1891 c.1688C>T c.(1687-1689)aCc>aTc p.T563I RGS9_uc010dem.3_Missense_Mutation_p.T560I|RGS9_uc002jfd.3_Missense_Mutation_p.T560I|RGS9_uc002jfg.3_Missense_Mutation_p.T334I NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 563 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 TCCCTCGACACCTCCTGGCCT 0.662000 5 46 0 0 0.014410 0 0 SPAST 6683 broad.mit.edu 37 2 32340802 32340802 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:32340802C>T uc002roc.3 + 5 1123 c.902C>T c.(901-903)cCt>cTt p.P301L SPAST_uc002rod.3_Missense_Mutation_p.P269L NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN Homo sapiens spastin (SPAST), transcript variant 1, mRNA. 301 Required for interaction with microtubules and microtubule severing.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing. ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ACAAATAAACCTTCTACCCCT 0.318000 28 48 0 0 0.014410 0 0 ABCA10 10349 broad.mit.edu 37 17 67197686 67197686 + Missense_Mutation SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:67197686G>T uc010dfa.1 - 10 2009 c.1130C>A c.(1129-1131)tCt>tAt p.S377Y ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 377 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CGGTTCAAAAGAATCATCAGA 0.333000 6 40 2.58029e-29 3.10886e-29 0.009718 1 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280212 39280212 + Missense_Mutation SNP A C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:39280212A>C uc002hwa.3 - 0 208 c.163T>G c.(163-165)Tgc>Ggc p.C55G NM_031854 NP_114060 Q9BQ66 KR412_HUMAN Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA. 55 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGCTGACAGCACACAGACTGG 0.687000 4 54 0 0 0.014410 0 0 FLNB 2317 broad.mit.edu 37 3 58067484 58067484 + Silent SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:58067484A>G uc003djj.2 + 3 933 c.768A>G c.(766-768)aaA>aaG p.K256K FLNB_uc010hne.2_Silent_p.K256K|FLNB_uc003djk.2_Silent_p.K256K|FLNB_uc010hnf.2_Silent_p.K256K|FLNB_uc003djl.2_Silent_p.K87K|FLNB_uc003djm.2_Silent_p.K87K NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 256 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACCCGAAGAAAGCCAGGGCCT 0.527000 4 29 0 0 0.010818 0 0 SCN11A 11280 broad.mit.edu 37 3 38936092 38936092 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:38936092C>T uc021wvy.1 - 14 2966 c.2767G>A c.(2767-2769)Gaa>Aaa p.E923K SCN11A_uc010hhn.1_Missense_Mutation_p.E39K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 923 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACGTCATCTTCCTCCTCCGCA 0.498000 16 76 0 0 0.014410 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323094 136323094 + Missense_Mutation SNP A C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:136323094A>C uc004cdv.4 + 27 4399 c.3955A>C c.(3955-3957)Acg>Ccg p.T1319P ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.T1263P|ADAMTS13_uc004cdu.1_Missense_Mutation_p.T1232P|ADAMTS13_uc004cdw.4_Missense_Mutation_p.T1263P|ADAMTS13_uc004cdx.4_Missense_Mutation_p.T1232P|ADAMTS13_uc004cdz.4_Missense_Mutation_p.T989P|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.4_Missense_Mutation_p.T115P|CACFD1_uc011mdg.1_5'Flank|CACFD1_uc011mdi.1_5'Flank|CACFD1_uc004cec.2_5'Flank|CACFD1_uc010nan.2_5'Flank|CACFD1_uc011mdh.1_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 1319 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GAGTCCAGCCACGAGTAATGC 0.607000 3 33 0 0 0.013726 0 0 DNAH9 1770 broad.mit.edu 37 17 11572479 11572479 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:11572479G>A uc002gne.3 + 15 2898 c.2830G>A c.(2830-2832)Ggt>Agt p.G944S DNAH9_uc010coo.3_Missense_Mutation_p.G238S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 944 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTGAAGGGGGGTTTCTGTGA 0.488000 10 87 0 0 0.014410 0 0 MOV10L1 54456 broad.mit.edu 37 22 50582601 50582601 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:50582601C>T uc003bjj.3 + 17 2517 c.2434C>T c.(2434-2436)Cgg>Tgg p.R812W MOV10L1_uc003bjk.4_Missense_Mutation_p.R812W|MOV10L1_uc011arp.2_Missense_Mutation_p.R792W|MOV10L1_uc003bjl.3_5'Flank NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 812 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CGTGTGTCTGCGGCTGCACGA 0.602000 49 111 0 0 0.014410 0 0 LILRA1 11024 broad.mit.edu 37 19 55087523 55087523 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:55087523C>T uc010ern.3 + 6 1671 c.1202C>T c.(1201-1203)tCc>tTc p.S401F LILRA1_uc002qgg.4_Missense_Mutation_p.S401F|LILRA1_uc002qgf.3_Missense_Mutation_p.S401F|LILRA1_uc010yfe.1_Missense_Mutation_p.S401F|LILRA1_uc010yff.1_Missense_Mutation_p.S389F|LILRA1_uc010ero.3_Missense_Mutation_p.S389F|LILRA1_uc010yfg.1_Intron O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 403 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCACTCAGCTCCAACCCCTAC 0.597000 48 27 0 0 0.007291 0 0 CACNA1E 777 broad.mit.edu 37 1 181686402 181686402 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:181686402C>T uc009wxt.3 + 10 1684 c.1489C>T c.(1489-1491)Cat>Tat p.H497Y CACNA1E_uc001gow.3_Missense_Mutation_p.H497Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.H497Y NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 497 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCCATTGTCCATCACAACCA 0.542000 17 35 0 0 0.007835 0 0 PNPLA5 150379 broad.mit.edu 37 22 44282289 44282289 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:44282289G>A uc003beg.3 - 5 976 c.843C>T c.(841-843)ggC>ggT p.G281G PNPLA5_uc003beh.3_Silent_p.G167G|PNPLA5_uc021wqw.1_Silent_p.G281G|PNPLA5_uc021wqx.1_Silent_p.G167G|PNPLA5_uc011aqc.2_Silent_p.G141G NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA. 281 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GTTGGTCACAGCCAGCATCCC 0.592000 63 32 0 0 0.013726 0 0 LONRF2 164832 broad.mit.edu 37 2 100917174 100917174 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:100917174T>G uc002tal.4 - 3 1637 c.997A>C c.(997-999)Aag>Cag p.K333Q LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 333 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 CCCTGAGCCTTTAATCTGCTT 0.438000 18 44 0 0 0.009718 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878930 12878930 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:12878930C>T uc010lsq.3 + 4 1234 c.742C>T c.(742-744)Cgt>Tgt p.R248C KIAA1456_uc011kxw.2_Intron|KIAA1456_uc003wwj.4_Missense_Mutation_p.R161C|KIAA1456_uc010lsr.3_Missense_Mutation_p.R122C NM_020844 NP_001093147 Q9P272 K1456_HUMAN Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA. 248 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 AAAATCGTTTCGTTCCTGGTT 0.418000 44 38 0 0 0.005524 0 0 ANKRD29 147463 broad.mit.edu 37 18 21226194 21226194 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:21226194C>T uc002kun.3 - 2 345 c.190G>A c.(190-192)Gaa>Aaa p.E64K ANKRD29_uc002kuo.3_Missense_Mutation_p.E64K NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA. 64 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAACCAGTTCCCTCACACAG 0.502000 21 24 0 0 0.004656 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964645 39964645 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:39964645C>T uc002olo.4 + 25 2714 c.2535C>T c.(2533-2535)acC>acT p.T845T SUPT5H_uc002olp.4_Silent_p.T845T|SUPT5H_uc002olq.4_Silent_p.T841T|SUPT5H_uc002oln.4_Silent_p.T845T|SUPT5H_uc002olr.4_Silent_p.T845T|SUPT5H_uc002ols.1_Silent_p.T468T NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 845 10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ATGAGCCCACCCCGTCCCCGC 0.567000 OREG0025462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 42 0 0 0.011902 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120072 103120072 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:103120072C>T uc002tbz.4 + 2 1343 c.886C>T c.(886-888)Cag>Tag p.Q296* NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 296 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACGTTTCACTCAGAATATCTC 0.453000 20 33 0 0 0.010818 0 0 ZNF501 115560 broad.mit.edu 37 3 44776024 44776024 + Silent SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:44776024T>C uc003cnu.1 + 2 512 c.111T>C c.(109-111)ctT>ctC p.L37L ZNF501_uc021wwq.1_Silent_p.L37L NM_145044 NP_659481 Q96CX3 ZN501_HUMAN Homo sapiens zinc finger protein 501 (ZNF501), mRNA. 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) GATCATCTCTTACCCAGCACC 0.418000 1 26 0 0 0.006320 0 0 CDYL2 124359 broad.mit.edu 37 16 80638443 80638443 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:80638443C>T uc002ffs.3 - 7 1468 c.1363_splice c.e7-1 p.V455_splice NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 455 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TCCTCTAACACCTAGAGGGAA 0.562000 43 46 0 0 0.014410 0 0 IPO8 10526 broad.mit.edu 37 12 30827670 30827670 + Missense_Mutation SNP A T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:30827670A>T uc001rjd.3 - 6 1095 c.747T>A c.(745-747)gaT>gaA p.D249E IPO8_uc010sjt.2_Missense_Mutation_p.D44E NM_006390 NP_006381 O15397 IPO8_HUMAN Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA. 249 intracellular protein transport|signal transduction cytoplasm|nucleus Ran GTPase binding|protein transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TATCATCCTCATCAATGTGCA 0.368000 117 88 0 0 0.014410 0 0 SLC12A5 57468 broad.mit.edu 37 20 44663613 44663613 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:44663613C>T uc010zxl.1 + 1 224 c.148C>T c.(148-150)Ccc>Tcc p.P50S SLC12A5_uc002xra.2_Missense_Mutation_p.P27S|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.P27S NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 50 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) GGAAAGCAGTCCCTTCATCAA 0.547000 47 34 0 0 0.007835 0 0 SF1 7536 broad.mit.edu 37 11 64537796 64537796 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:64537796C>T uc001obb.2 - 3 773 c.321G>A c.(319-321)gaG>gaA p.E107E SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Silent_p.E81E|SF1_uc001oaz.2_Silent_p.E232E|SF1_uc001oba.2_Silent_p.E107E|SF1_uc001obd.2_Silent_p.E107E|SF1_uc001obc.2_Silent_p.E107E|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR NM_004630 NP_001171502 Q15637 SF01_HUMAN Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA. 107 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex RNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TGTGCCGCTCCTCTTCCAGCT 0.552000 77 10 0 0 0.013537 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102449438 102449438 + Silent SNP G A A rs144254264 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:102449438G>A uc001yks.2 + 5 1208 c.1044G>A c.(1042-1044)acG>acA p.T348T NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 348 Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TGTCTGCCACGGAGCTGGACA 0.418000 7 36 0 0 0.003755 0 0 KLHL14 57565 broad.mit.edu 37 18 30260234 30260234 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:30260234C>T uc002kxm.1 - 6 1874 c.1486G>A c.(1486-1488)Gat>Aat p.D496N NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA. 496 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GCCCAGACATCCATTACTGGG 0.398000 50 14 0 0 0.004990 0 0 PRKCA 5578 broad.mit.edu 37 17 64641630 64641630 + Splice_Site SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:64641630G>T uc002jfo.1 + 6 634 c.142_splice c.e6+1 p.V48_splice PRKCA_uc002jfp.1_Splice_Site_p.V177_splice P17252 KPCA_HUMAN Homo sapiens protein kinase C, alpha (PRKCA), mRNA. 177 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CATGTCACAGGTAAGGCTTGC 0.552000 7 39 1.5731e-28 1.8928e-28 0.011902 1 0 PAK1 5058 broad.mit.edu 37 11 77034362 77034362 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:77034362G>A uc001oyh.4 - 14 2128 c.1595C>T c.(1594-1596)cCa>cTa p.P532L PAK1_uc010rso.2_Silent_p.S450S|PAK1_uc001oyg.4_Silent_p.S548S|PAK1_uc001oyi.1_Intron|PAK1_uc010rsn.2_Missense_Mutation_p.P245L NM_002576 NP_002567 Q13153 PAK1_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA. 532 ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation Golgi apparatus|cytosol|focal adhesion ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) AGCAATCAGTGGAGTGAGGCT 0.438000 23 4 0 0 0.009096 0 0 WDR7 23335 broad.mit.edu 37 18 54349978 54349978 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:54349978C>T uc002lgk.1 + 4 625 c.414C>T c.(412-414)atC>atT p.I138I WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.I138I NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 138 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) ACCCTGAAATCCTTGTTGTGG 0.413000 41 48 0 0 0.014410 0 0 SACS 26278 broad.mit.edu 37 13 23912862 23912862 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:23912862G>A uc001uon.2 - 9 5742 c.5153C>T c.(5152-5154)tCc>tTc p.S1718F SACS_uc001uoo.2_Missense_Mutation_p.S1571F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1718 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGAAGAGCAGGATTTTTTTTT 0.358000 8 16 0 0 0.004990 0 0 POM121L12 285877 broad.mit.edu 37 7 53103784 53103784 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:53103784G>A uc003tpz.3 + 0 436 c.420G>A c.(418-420)ggG>ggA p.G140G NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 140 p.I139M(1)|p.I139I(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGACCATCGGGATCGCGCCCC 0.711000 12 22 0 0 0.012319 0 0 EPHB2 2048 broad.mit.edu 37 1 23237024 23237024 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:23237024C>T uc009vqj.1 + 13 2797 c.2652C>T c.(2650-2652)atC>atT p.I884I EPHB2_uc001bge.3_Silent_p.I885I|EPHB2_uc001bgf.3_Silent_p.I884I|EPHB2_uc010odu.2_Silent_p.I826I NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 884 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACAAGATGATCCGCAATCCCA 0.642000 30 7 0 0 0.001984 0 0 EPHA3 2042 broad.mit.edu 37 3 89259572 89259572 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:89259572C>T uc003dqy.3 + 2 941 c.716C>T c.(715-717)cCt>cTt p.P239L EPHA3_uc003dqx.1_Missense_Mutation_p.P239L|EPHA3_uc021xbf.1_Missense_Mutation_p.P239L NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 239 Cys-rich. extracellular region|integral to plasma membrane ATP binding p.P239T(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAGGAAGATCCTCCAAGGATG 0.488000 TSP Lung(6;0.00050) 108 274 0 0 0.014410 0 0 RERGL 79785 broad.mit.edu 37 12 18234317 18234317 + Silent SNP T A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:18234317T>A uc001rdq.3 - 5 620 c.426A>T c.(424-426)gcA>gcT p.A142A NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 142 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity p.A142S(1) endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 GGTTTTCCAGTGCCAGCTTTT 0.453000 42 10 0 0 0.008291 0 0 NCAM1 4684 broad.mit.edu 37 11 113103514 113103514 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:113103514G>A uc021qqp.1 + 12 1944 c.1572G>A c.(1570-1572)ttG>ttA p.L524L NCAM1_uc001pnp.3_Silent_p.L488L|NCAM1_uc021qqo.1_Silent_p.L488L|NCAM1_uc001pnq.3_Silent_p.L498L|NCAM1_uc001pnr.3_Silent_p.L488L NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 500 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane 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) AGGAGTCCTTGGAATTCATCC 0.502000 31 8 0 0 0.006214 0 0 PDS5B 23047 broad.mit.edu 37 13 33261421 33261421 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:33261421C>T uc010abf.3 + 12 1541 c.1355_splice c.e12+1 p.R452_splice PDS5B_uc001uuo.3_Splice_Site_p.R452_splice|PDS5B_uc010abg.3_Splice_Site|PDS5B_uc010teb.2_Splice_Site_p.R154_splice NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 452 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TATTGATGATCGGTAAGTTAA 0.299000 15 19 0 0 0.006122 0 0 CRNKL1 51340 broad.mit.edu 37 20 20029057 20029057 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:20029057G>A uc002wrs.3 - 4 900 c.868C>T c.(868-870)Cgc>Tgc p.R290C CRNKL1_uc002wrt.1_Missense_Mutation_p.R278C NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 290 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TTGACTTGGCGATTCTTCATT 0.433000 30 31 0 0 0.010818 0 0 SHANK2 22941 broad.mit.edu 37 11 70331599 70331599 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:70331599C>T uc001oqc.3 - 20 4713 c.4601G>A c.(4600-4602)aGg>aAg p.R1534K SHANK2_uc010rqn.2_Missense_Mutation_p.R1010K|SHANK2_uc001opz.3_Missense_Mutation_p.R1005K|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. 1221 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) CTTGGAGGTCCTTGGCTGGAG 0.567000 47 24 0 0 0.008361 0 0 CES3 23491 broad.mit.edu 37 16 66997462 66997463 + Missense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:66997462_66997463CC>TT uc002eqt.3 + 2 435_436 c.356_357CC>TT c.(355-357)tcc>tTT p.S119F CES3_uc010cdz.3_Missense_Mutation_p.S119F NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 119 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) CAGATCTTCTCCGTTTCAGAGG 0.604000 15 26 0 0 0.004672 0 0 HTR3B 9177 broad.mit.edu 37 11 113802525 113802525 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:113802525G>A uc001pok.3 + 3 442 c.304G>A c.(304-306)Gag>Aag p.E102K HTR3B_uc001pol.3_Missense_Mutation_p.E91K NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 102 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CATGTTTGATGAGATTAGAGA 0.418000 40 5 0 0 0.001168 0 0 AHCYL2 23382 broad.mit.edu 37 7 129049373 129049373 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:129049373T>C uc011kov.2 + 10 1415 c.1352T>C c.(1351-1353)gTt>gCt p.V451A AHCYL2_uc003vot.3_Missense_Mutation_p.V450A|AHCYL2_uc003vov.3_Missense_Mutation_p.V348A|AHCYL2_uc011kox.2_Missense_Mutation_p.V348A NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA. 451 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GTGGACATTGTTATTACCTGT 0.388000 28 67 0 0 0.014410 0 0 OR2A25 392138 broad.mit.edu 37 7 143771444 143771444 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:143771444C>T uc011ktx.2 + 0 132 c.132C>T c.(130-132)atC>atT p.I44I NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ACGGGACAATCCTGGGGCTCA 0.557000 73 29 0 0 0.006320 0 0 HERC2 8924 broad.mit.edu 37 15 28358775 28358776 + Missense_Mutation DNP GG AA AA TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:28358775_28358776GG>AA uc001zbj.3 - 90 14068_14069 c.13962_13963CC>TT c.(13960-13965)gcccgc>gcTTgc p.R4655C HERC2_uc001zbi.3_Missense_Mutation_p.R344C NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 4655 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGCACAACGCGGGCCATTCCTT 0.545000 23 20 0 0 0.004672 0 0 OR52J3 119679 broad.mit.edu 37 11 5068174 5068174 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:5068174C>T uc010qyv.2 + 0 419 c.419C>T c.(418-420)tCc>tTc p.S140F NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTTGACATCCCAAGTGTTG 0.488000 32 6 0 0 0.001168 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21319179 21319179 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:21319179C>T uc021tss.1 + 2 895 c.525C>T c.(523-525)ttC>ttT p.F175F KCNJ18_uc002gyv.1_Silent_p.F175F|KCNJ18_uc021tst.1_Silent_p.F175F NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 175 integral to membrane inward rectifier potassium channel activity TCGACTCCTTCATGATTGGTG 0.637000 22 10 0 0 0.013537 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141131 63141131 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:63141131C>T uc001nww.3 + 2 790 c.522C>T c.(520-522)ttC>ttT p.F174F SLC22A9_uc001nwx.3_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 174 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGAGAAGGTTCGTGCTCAGAT 0.458000 6 22 0 0 0.012319 0 0 DSG3 1830 broad.mit.edu 37 18 29041337 29041337 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:29041337G>A uc002kws.3 + 7 1070 c.961G>A c.(961-963)Gat>Aat p.D321N NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 321 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) AATACAAACTGATCCTAGAAC 0.343000 19 25 0 0 0.007291 0 0 APOB 338 broad.mit.edu 37 2 21233061 21233061 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:21233061G>A uc002red.3 - 25 6807 c.6679C>T c.(6679-6681)Cat>Tat p.H2227Y NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2227 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) TGTAGATCATGGATTGTTTTT 0.269000 136 308 0 0 0.014410 0 0 MAP1A 4130 broad.mit.edu 37 15 43821004 43821004 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:43821004C>T uc001zrt.3 + 3 7800 c.7333C>T c.(7333-7335)Cgt>Tgt p.R2445C NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 2445 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) TCGGCCCCATCGTGGGGAGCT 0.647000 33 16 0 0 0.006122 0 0 RALGAPB 57148 broad.mit.edu 37 20 37191301 37191301 + Missense_Mutation SNP T A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:37191301T>A uc002xiw.3 + 23 3915 c.3658T>A c.(3658-3660)Tct>Act p.S1220T RALGAPB_uc002xix.3_Missense_Mutation_p.S1216T|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.S998T NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 1220 Rap-GAP. activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TACCAGTTGGTCTATTAATTG 0.398000 30 27 0 0 0.008361 0 0 LTBP2 4053 broad.mit.edu 37 14 74971811 74971811 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:74971811G>A uc001xqa.3 - 28 4631 c.4244C>T c.(4243-4245)tCc>tTc p.S1415F NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1415 TB 3. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTTCTGCCCGGAGTAGCAGTC 0.637000 0 35 0 0 0.013726 0 0 TCF4 6925 broad.mit.edu 37 18 52928712 52928712 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:52928712C>T uc002lga.3 - 12 1341 c.1281G>A c.(1279-1281)ggG>ggA p.G427G TCF4_uc021ukg.1_Silent_p.G165G|TCF4_uc021ukh.1_Silent_p.G165G|TCF4_uc002lfw.4_Silent_p.G165G|TCF4_uc010xdu.1_Silent_p.G195G|TCF4_uc010xdv.1_Silent_p.G195G|TCF4_uc021uki.1_Silent_p.G254G|TCF4_uc002lfx.2_Silent_p.G254G|TCF4_uc010xdw.1_Silent_p.G195G|TCF4_uc002lfy.2_Silent_p.G283G|TCF4_uc010xdx.1_Silent_p.G301G|TCF4_uc021ukj.1_Silent_p.G265G|TCF4_uc021ukk.1_Silent_p.G265G|TCF4_uc021ukl.1_Silent_p.G323G|TCF4_uc002lfz.2_Silent_p.G325G|TCF4_uc010dph.1_Silent_p.G325G|TCF4_uc010dpi.3_Silent_p.G331G|TCF4_uc010xdy.1_Silent_p.G301G NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 325 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CAAGTGCTTTCCCCAGAGCAT 0.448000 174 62 0 0 0.014410 0 0 PTPRT 11122 broad.mit.edu 37 20 41306560 41306560 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:41306560C>T uc002xkg.3 - 6 1283 c.1099G>A c.(1099-1101)Gag>Aag p.E367K PTPRT_uc010ggj.3_Missense_Mutation_p.E367K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 367 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.G366V(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTACCCCCCTCACCTGGTCGT 0.557000 52 52 0 0 0.014410 0 0 KIF15 56992 broad.mit.edu 37 3 44872506 44872506 + Missense_Mutation SNP T A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:44872506T>A uc003cnx.4 + 25 3316 c.3167T>A c.(3166-3168)aTa>aAa p.I1056K KIF15_uc010hiq.3_Missense_Mutation_p.I959K|KIF15_uc010hir.3_Missense_Mutation_p.I104K NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 1056 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TCTGAGGACATAGAGGTAGGT 0.373000 6 49 0 0 0.014410 0 0 ACBD3 64746 broad.mit.edu 37 1 226352628 226352628 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:226352628C>T uc001hpy.3 - 2 478 c.431G>A c.(430-432)aGa>aAa p.R144K NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA. 144 ACB. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) TGCCCATTCTCTCCTGTAAGG 0.363000 25 8 0 0 0.003080 0 0 NDST4 64579 broad.mit.edu 37 4 115891704 115891704 + Missense_Mutation SNP A C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:115891704A>C uc003ibu.3 - 3 1782 c.1103T>G c.(1102-1104)cTt>cGt p.L368R NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 368 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CACAGACCGAAGTAAAAGGTC 0.388000 2 20 0 0 0.002780 0 0 IRX6 79190 broad.mit.edu 37 16 55362701 55362701 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:55362701G>A uc002ehy.3 + 4 1344 c.811G>A c.(811-813)Gac>Aac p.D271N IRX6_uc002ehx.3_Missense_Mutation_p.D271N NM_024335 NP_077311 P78412 IRX6_HUMAN Homo sapiens iroquois homeobox 6 (IRX6), mRNA. 271 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 ggaagctgaagacgaggaggT 0.637000 13 23 0 0 0.014323 0 0 ASNS 440 broad.mit.edu 37 7 97488681 97488681 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:97488681G>A uc003uot.4 - 4 1023 c.517C>T c.(517-519)Ccc>Tcc p.P173S ASNS_uc011kin.2_Missense_Mutation_p.P90S|ASNS_uc011kio.2_Missense_Mutation_p.P152S|ASNS_uc003uou.4_Missense_Mutation_p.P173S|ASNS_uc003uov.4_Missense_Mutation_p.P173S|ASNS_uc003uox.4_Missense_Mutation_p.P90S NM_133436 NP_001171548 P08243 ASNS_HUMAN Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA. 173 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction ATP binding|asparagine synthase (glutamine-hydrolyzing) activity ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTTAAAAAGGGAGTCGCGGAG 0.368000 49 88 0 0 0.014410 0 0 CALM2 805 broad.mit.edu 37 2 47388964 47388964 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:47388964G>A uc002rvt.2 - 4 477 c.319C>T c.(319-321)Cgc>Tgc p.R107C C2orf61_uc010fbd.3_Intron NM_001743 NP_005175 P62158 CALM_HUMAN Homo sapiens calmodulin 2 (phosphorylase kinase, delta) (CALM2), mRNA. 107 EF-hand 3. G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole N-terminal myristoylation domain binding|calcium ion binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding p.0?(2) kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) ATCACATGGCGAAGTTCTGCA 0.363000 51 12 0 0 0.003163 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16876447 16876447 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:16876447G>A uc010rcu.1 - 5 526 c.511C>T c.(511-513)Ctg>Ttg p.L171L PLEKHA7_uc001mmo.3_Silent_p.L171L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 171 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGCTTGTGCAGCCAGCCCCTC 0.552000 19 26 0 0 0.006320 0 0 SLC10A2 6555 broad.mit.edu 37 13 103703678 103703678 + Silent SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:103703678T>C uc001vpy.4 - 3 1287 c.690A>G c.(688-690)ggA>ggG p.G230G NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 230 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAAATATTGTTCCTATAATCC 0.488000 17 13 0 0 0.003163 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 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 267 31 0 0 0.005524 0 0 CCDC87 55231 broad.mit.edu 37 11 66358614 66358614 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:66358614C>A uc001oiq.4 - 0 1941 c.1873G>T c.(1873-1875)Gtg>Ttg p.V625L CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 625 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGGGGCCACAATCTCCACA 0.478000 44 23 2.21704e-12 2.63919e-12 0.002780 1 0 OR1B1 347169 broad.mit.edu 37 9 125390912 125390912 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:125390912C>T uc011lyz.2 - 0 903 c.903G>A c.(901-903)aaG>aaA p.K301K NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 CCTTGACATCCTTATTGTGGA 0.488000 5 26 0 0 0.003954 0 0 HNF4A 3172 broad.mit.edu 37 20 42984463 42984464 + Missense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:42984463_42984464CC>TT uc002xlv.3 + 0 23_24 c.19_20CC>TT c.(19-21)ccc>TTc p.P7F HNF4A_uc010zwo.1_5'UTR|HNF4A_uc002xlt.3_Missense_Mutation_p.P7F|HNF4A_uc002xlu.3_Missense_Mutation_p.P7F NM_175914 NP_787110 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 4, mRNA. 155 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGTGAACGCGCCCCTCGGGGCT 0.683000 137 98 0 0 0.004672 0 0 CYP4A22 284541 broad.mit.edu 37 1 47606542 47606542 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:47606542C>T uc001cqv.1 + 1 337 c.286C>T c.(286-288)Cgt>Tgt p.R96C CYP4A22_uc009vyo.3_Missense_Mutation_p.R96C|CYP4A22_uc009vyp.3_Missense_Mutation_p.R96C NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 96 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGCAAAGTTCGTGTCCAGCT 0.502000 30 67 0 0 0.014410 0 0 FBXW7 55294 broad.mit.edu 37 4 153271233 153271233 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:153271233G>A uc003ims.3 - 2 707 c.545C>T c.(544-546)tCt>tTt p.S182F FBXW7_uc011cii.2_Missense_Mutation_p.S182F|FBXW7_uc003imt.3_Missense_Mutation_p.S182F|FBXW7_uc011cih.2_5'Flank|FBXW7_uc003imq.3_Missense_Mutation_p.S102F|FBXW7_uc003imr.3_Missense_Mutation_p.S64F NM_033632 NP_361014 Q969H0 FBXW7_HUMAN Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA. 182 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development SCF ubiquitin ligase complex|nucleolus|nucleoplasm protein binding p.S182fs*57(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTTTCCCAAAGAAAAAGAGCG 0.299000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 0 4 0 0 0.000602 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632506 111632506 + Missense_Mutation SNP C G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:111632506C>G uc010hqa.3 + 2 2087 c.1676C>G c.(1675-1677)cCg>cGg p.P559R PHLDB2_uc003dyc.3_Missense_Mutation_p.P586R|PHLDB2_uc003dyd.3_Missense_Mutation_p.P559R|PHLDB2_uc003dyg.3_Missense_Mutation_p.P559R|PHLDB2_uc003dyh.3_Missense_Mutation_p.P559R|PHLDB2_uc003dyi.3_Missense_Mutation_p.P145R|PHLDB2_uc003dyf.4_Missense_Mutation_p.P559R NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 559 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TCCACCTTTCCGAAAGCTTCC 0.502000 101 73 0 0 0.014410 0 0 LRIT2 340745 broad.mit.edu 37 10 85981699 85981699 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:85981699C>T uc010qmc.2 - 3 1668 c.1660G>A c.(1660-1662)Gga>Aga p.G554R LRIT2_uc001kcy.3_Missense_Mutation_p.G544R NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 544 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TCCGTTCCTCCTTTCTCCTTG 0.562000 27 29 0 0 0.013726 0 0 PI16 221476 broad.mit.edu 37 6 36930773 36930773 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:36930773T>C uc021yzd.1 + 5 878 c.655T>C c.(655-657)Ttc>Ctc p.F219L PI16_uc003omz.1_Missense_Mutation_p.F219L|PI16_uc003ona.3_Missense_Mutation_p.F219L|PI16_uc011dts.1_5'UTR NM_001199159 NP_001186088 Q6UXB8 PI16_HUMAN Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA. 219 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGCCCCATCCTTCCGGGCGAC 0.542000 18 24 0 0 0.003954 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140741396 140741397 + Missense_Mutation DNP CC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:140741396_140741397CC>TT uc003ljs.2 + 0 1694_1695 c.1694_1695CC>TT c.(1693-1695)ccc>cTT p.P565L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.P565L|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 567 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) GTGCTGTACCCCGCGCTGGGGC 0.693000 6 22 0 0 0.004672 0 0 OR51I1 390063 broad.mit.edu 37 11 5462531 5462531 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:5462531C>T uc010qze.2 - 0 253 c.214G>A c.(214-216)Gat>Aat p.D72N 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. 72 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) ACTCCCAGATCATTGAGAGCG 0.463000 17 20 0 0 0.007413 0 0 TACR3 6870 broad.mit.edu 37 4 104640528 104640528 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:104640528C>T uc003hxe.1 - 0 446 c.305G>A c.(304-306)gGa>gAa p.G102E NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 102 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GATGAGATTTCCCAAAACTGC 0.597000 27 39 0 0 0.008740 0 0 MAST4 375449 broad.mit.edu 37 5 66459023 66459023 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:66459023C>T uc021xzk.1 + 28 4324 c.4016C>T c.(4015-4017)tCc>tTc p.S1339F MAST4_uc003jut.2_Missense_Mutation_p.S1150F|MAST4_uc003juw.3_Missense_Mutation_p.S1078F|MAST4_uc003jux.3_5'Flank NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 1342 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCCCCCAATTCCCCAGCAGGG 0.602000 16 62 0 0 0.014410 0 0 TRPM3 80036 broad.mit.edu 37 9 73235016 73235016 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:73235016G>A uc004aid.3 - 14 2313 c.2069C>T c.(2068-2070)tCc>tTc p.S690F TRPM3_uc004ahu.3_Missense_Mutation_p.S520F|TRPM3_uc004ahv.3_Missense_Mutation_p.S492F|TRPM3_uc004ahw.3_Missense_Mutation_p.S562F|TRPM3_uc004ahx.3_Missense_Mutation_p.S549F|TRPM3_uc004ahy.3_Missense_Mutation_p.S552F|TRPM3_uc004ahz.3_Missense_Mutation_p.S539F|TRPM3_uc004aia.3_Missense_Mutation_p.S537F|TRPM3_uc004aib.3_Missense_Mutation_p.S527F|TRPM3_uc004aic.3_Missense_Mutation_p.S690F NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 715 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CAGCTCCTGGGAAATGTCGTC 0.602000 5 26 0 0 0.005443 0 0 MYO18B 84700 broad.mit.edu 37 22 26294398 26294398 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:26294398G>A uc003abz.1 + 28 5043 c.4793G>A c.(4792-4794)cGa>cAa p.R1598Q MYO18B_uc003aca.1_Missense_Mutation_p.R1479Q|MYO18B_uc010guy.1_Missense_Mutation_p.R1480Q|MYO18B_uc010guz.1_Missense_Mutation_p.R1478Q|MYO18B_uc011aka.1_Missense_Mutation_p.R752Q|MYO18B_uc011akb.1_Missense_Mutation_p.R1111Q NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1598 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAACAAAGTCGAAACCATGAG 0.537000 133 42 0 0 0.014410 0 0 TNRC6A 27327 broad.mit.edu 37 16 24828142 24828142 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:24828142C>T uc002dmm.3 + 19 4951 c.4837C>T c.(4837-4839)Cgt>Tgt p.R1613C TNRC6A_uc010bxs.3_Missense_Mutation_p.R1360C|TNRC6A_uc002dmn.3_Missense_Mutation_p.R1311C|TNRC6A_uc002dmo.3_Missense_Mutation_p.R1252C NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA. 1613 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCCAGAATTTCGTCCTGGTGA 0.343000 45 31 0 0 0.003271 0 0 abParts 0 broad.mit.edu 37 14 106405839 106405839 + RNA SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:106405839G>A uc021ser.1 - 3033 c.49953C>T Parts of antibodies, mostly variable regions. CACTGTCCCCGGAGATGGCAC 0.572000 7 33 0 0 0.012213 0 0 PAPD7 11044 broad.mit.edu 37 5 6746461 6746461 + Silent SNP C T T rs28381391 byFrequency TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:6746461C>T uc003jdx.1 + 6 759 c.630C>T c.(628-630)atC>atT p.I210I PAPD7_uc011cmn.2_Silent_p.I210I|PAPD7_uc010itl.1_Silent_p.I30I NM_006999 NP_001165277 Q5XG87 PAPD7_HUMAN Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA. 210 PAP-associated. DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTGCCTATATCGCCAAAGAGG 0.458000 58 57 0 0 0.014410 0 0 APLNR 187 broad.mit.edu 37 11 57003516 57003516 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:57003516G>A uc001njo.3 - 0 1412 c.963C>T c.(961-963)acC>acT p.T321T APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 321 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGAGCATGGAGGTGCAGGCCT 0.627000 12 16 0 0 0.004007 0 0 SETX 23064 broad.mit.edu 37 9 135158696 135158696 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:135158696G>A uc004cbk.3 - 18 6684 c.6501C>T c.(6499-6501)ttC>ttT p.F2167F SETX_uc004cbj.3_Silent_p.F1786F|SETX_uc010mzt.3_Silent_p.F1786F NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 2167 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTTGCCCACGGAAAGCAGACT 0.473000 4 28 0 0 0.008361 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567926 99567926 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:99567926C>T uc003dtm.3 - 4 3057 c.2594G>A c.(2593-2595)tGg>tAg p.W865* MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Nonsense_Mutation_p.W865*|FILIP1L_uc010hpf.3_Nonsense_Mutation_p.W441*|FILIP1L_uc010hpg.3_Nonsense_Mutation_p.W625*|FILIP1L_uc003dtn.3_Nonsense_Mutation_p.W625*|FILIP1L_uc021xbr.1_Nonsense_Mutation_p.W625*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.W625* NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 865 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GGATTTCATCCAGGGAATCCA 0.463000 67 68 0 0 0.014410 0 0 SLC4A7 9497 broad.mit.edu 37 3 27444793 27444793 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:27444793C>T uc011aww.2 - 14 2379 c.2158G>A c.(2158-2160)Gat>Aat p.D720N SLC4A7_uc011awx.2_Missense_Mutation_p.D707N|SLC4A7_uc021wun.1_Missense_Mutation_p.D596N|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.D703N|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.D592N|SLC4A7_uc011axb.2_Missense_Mutation_p.D707N|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.D592N|SLC4A7_uc010hfl.3_Missense_Mutation_p.D261N|SLC4A7_uc003cdv.3_Missense_Mutation_p.D711N|SLC4A7_uc003cdw.3_Missense_Mutation_p.D587N NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA. 711 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 CTGCTTGCATCTGTTGCAACC 0.368000 9 48 0 0 0.014410 0 0 C10orf12 26148 broad.mit.edu 37 10 98743944 98743944 + Missense_Mutation SNP C G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:98743944C>G uc001kmv.3 + 0 2904 c.2797C>G c.(2797-2799)Cct>Gct p.P933A NM_015652 NP_056467 Q8N655 CJ012_HUMAN Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA. 933 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAGAAATTTCCTGGAGCTAC 0.473000 40 29 0 0 0.007291 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88813196 88813196 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:88813196G>A uc010iko.1 + 0 202 c.202G>A c.(202-204)Ggt>Agt p.G68S Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. GTTGGACAGTGGTAAAGAGCT 0.458000 26 9 0 0 0.006214 0 0 PRB4 5545 broad.mit.edu 37 12 11461501 11461501 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:11461501C>T uc001qzf.1 - 2 450 c.416G>A c.(415-417)gGa>gAa p.G139E PRB4_uc001qzt.3_Missense_Mutation_p.G139E NM_002723 NP_002714 P10163 PRB4_HUMAN Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA. 202 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TTCTGGCTTTCCTGGAGGAGG 0.602000 HNSCC(22;0.051) 142 100 0 0 0.014410 0 0 PARN 5073 broad.mit.edu 37 16 14721147 14721147 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:14721147T>C uc010uzd.2 - 3 370 c.224A>G c.(223-225)aAg>aGg p.K75R PARN_uc010uzc.2_Missense_Mutation_p.K14R|PARN_uc010uze.2_Intron|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript NM_002582 NP_001127949 O95453 PARN_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA. 75 RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleolus mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 GTAGTCATACTTAAAAGTGCA 0.388000 9 3 0 0 0.004672 0 0 C12orf26 84190 broad.mit.edu 37 12 82792590 82792590 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:82792590C>T uc001szq.3 + 3 617 c.548C>T c.(547-549)tCc>tTc p.S183F NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA. 183 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 19 GACTTGGGTTCCGGTAAAGGC 0.318000 6 26 0 0 0.008361 0 0 TTN 7273 broad.mit.edu 37 2 179596608 179596608 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179596608G>A uc021vsy.1 - 54 13487 c.13262C>T c.(13261-13263)cCc>cTc p.P4421L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1082L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5348 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P4421H(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) GATCTCAAAGGGAGGAGTGCC 0.423000 94 23 0 0 0.002780 0 0 TNN 63923 broad.mit.edu 37 1 175046622 175046622 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:175046622C>T uc001gkl.1 + 1 181 c.68C>T c.(67-69)tCg>tTg p.S23L TNN_uc010pmx.1_Missense_Mutation_p.S23L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 23 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.S23L(4)|p.A22S(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGGTGGCTTCGGCCCCAGCC 0.592000 10 39 0 0 0.008740 0 0 KNDC1 85442 broad.mit.edu 37 10 135032453 135032453 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:135032453C>T uc001llz.1 + 26 4797 c.4796C>T c.(4795-4797)tCc>tTc p.S1599F NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 1599 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GTGAGGCAGTCCCCTGTGCGT 0.602000 6 15 0 0 0.002450 0 0 OBSCN 84033 broad.mit.edu 37 1 228465557 228465557 + Missense_Mutation SNP A T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:228465557A>T uc009xez.1 + 24 6901 c.6857A>T c.(6856-6858)aAg>aTg p.K2286M OBSCN_uc001hsn.3_Missense_Mutation_p.K2286M|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2286 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCCGAGTGAAGGGTGAGGTG 0.627000 28 9 0 0 0.010729 0 0 ADH7 131 broad.mit.edu 37 4 100349083 100349083 + Silent SNP G C C rs1042111 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:100349083G>C uc003huv.2 - 4 688 c.447C>G c.(445-447)gtC>gtG p.V149V ADH7_uc021xqj.1_Silent_p.V157V NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 149 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TGAAGTGGTGGACTGGTTTGC 0.423000 55 19 0 0 0.007413 0 0 ABTB2 25841 broad.mit.edu 37 11 34181535 34181535 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:34181535T>C uc001mvl.2 - 12 2949 c.2524A>G c.(2524-2526)Aag>Gag p.K842E NM_145804 NP_665803 A8K6S9 A8K6S9_HUMAN Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA. 656 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GACATCTCCTTATTGTTCAAA 0.498000 35 12 0 0 0.001855 0 0 CECR2 27443 broad.mit.edu 37 22 17976607 17976607 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:17976607G>A uc010gqw.1 + 1 268 c.268G>A c.(268-270)Gat>Aat p.D90N CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 132 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CGATGTCTTCGATCTTCTAAA 0.502000 105 30 0 0 0.010818 0 0 SRPK1 6732 broad.mit.edu 37 6 35806137 35806137 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:35806137G>A uc003olj.3 - 14 1884 c.1760C>T c.(1759-1761)tCc>tTc p.S587F SRPK1_uc003olh.3_Missense_Mutation_p.S480F|SRPK1_uc003oli.3_Missense_Mutation_p.S480F|SRPK1_uc011dtg.2_Missense_Mutation_p.S571F NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA. 587 Protein kinase. RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 AAATTCCTTGGAATATTTTCC 0.388000 3 8 0 0 0.004482 0 0 DHRS3 9249 broad.mit.edu 37 1 12639406 12639406 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:12639406G>A uc001auc.3 - 2 841 c.374C>T c.(373-375)gCc>gTc p.A125V DHRS3_uc001aub.3_Missense_Mutation_p.A40V|DHRS3_uc009vnm.3_Missense_Mutation_p.A125V NM_004753 NP_004744 O75911 DHRS3_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA. 125 retinol metabolic process|visual perception integral to membrane NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) ATGGACCACGGCGGCATTGTT 0.582000 10 45 0 0 0.014410 0 0 AZI1 22994 broad.mit.edu 37 17 79168728 79168728 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:79168728G>A uc002jzp.1 - 16 2270 c.2070C>T c.(2068-2070)gcC>gcT p.A690A AZI1_uc002jzm.1_Silent_p.A117A|AZI1_uc002jzn.1_Silent_p.A687A|AZI1_uc002jzo.1_Silent_p.A687A|AZI1_uc010wum.1_Silent_p.A690A|AZI1_uc002jzq.3_5'Flank NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA. 690 G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCTCCCGGCGGGCTTTCTCGG 0.572000 24 113 0 0 0.014410 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175773 71175773 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:71175773C>T uc003tvy.3 + 9 1528 c.1528C>T c.(1528-1530)Ctg>Ttg p.L510L WBSCR17_uc003tvz.3_Silent_p.L209L NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 510 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.F509L(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGAAGGCTTCCTGCACTTGGG 0.627000 114 37 0 0 0.010771 0 0 IRX3 79191 broad.mit.edu 37 16 54319046 54319046 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:54319046G>A uc002eht.1 - 1 1163 c.747C>T c.(745-747)gaC>gaT p.D249D NM_024336 NP_077312 P78415 IRX3_HUMAN Homo sapiens iroquois homeobox 3 (IRX3), mRNA. 249 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 cctcgtcctcgtcgtcgtcag 0.692000 12 4 0 0 0.009096 0 0 CA1 759 broad.mit.edu 37 8 86250633 86250633 + Missense_Mutation SNP T G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:86250633T>G uc022axc.1 - 1 162 c.83A>C c.(82-84)aAc>aCc p.N28T CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.N28T|CA1_uc022axd.1_Missense_Mutation_p.N28T|CA1_uc010mae.2_Missense_Mutation_p.N28T|CA1_uc003ydi.3_Missense_Mutation_p.N28T NM_001164830 NP_001729 P00915 CAH1_HUMAN Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA. 28 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) AGGGGACTGGTTATTTCCATT 0.413000 76 72 0 0 0.014410 0 0 MARCH11 441061 broad.mit.edu 37 5 16091132 16091132 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:16091132C>T uc003jfo.2 - 2 965 c.752G>A c.(751-753)gGa>gAa p.G251E MARCH11_uc010itw.1_Missense_Mutation_p.G7E NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA. 251 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GAACAGGGATCCTAGGATTAC 0.443000 8 12 0 0 0.001855 0 0 FER 2241 broad.mit.edu 37 5 108516559 108516559 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:108516559G>A uc003kop.1 + 17 2544 c.2160G>A c.(2158-2160)aaG>aaA p.K720K FER_uc011cvg.1_Silent_p.K545K NM_005246 NP_005237 P16591 FER_HUMAN Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA. 720 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) CTGGCTTAAAGCAGATTCCCA 0.373000 7 31 0 0 0.010818 0 0 POM121L12 285877 broad.mit.edu 37 7 53104076 53104076 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:53104076C>T uc003tpz.3 + 0 728 c.712C>T c.(712-714)Ccg>Tcg p.P238S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 238 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCTCTGAAGCCGAGCCTCGG 0.657000 40 10 0 0 0.008291 0 0 RSAD1 55316 broad.mit.edu 37 17 48559767 48559767 + Missense_Mutation SNP C G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:48559767C>G uc002iqw.1 + 3 846 c.790C>G c.(790-792)Ctt>Gtt p.L264V RSAD1_uc010wmq.1_Non-coding_Transcript NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA. 264 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCGGGCTGTCCTTCGGGAGGC 0.652000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 27 0 0 0.007291 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136594218 136594218 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:136594218C>T uc003yuv.3 + 5 1103 c.709C>T c.(709-711)Cgg>Tgg p.R237W KHDRBS3_uc003yuw.3_Missense_Mutation_p.R237W|KHDRBS3_uc010mek.3_Non-coding_Transcript NM_006558 NP_006549 O75525 KHDR3_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA. 237 Interaction with SIAH1. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GCCAGTGAGTCGGGGAAGAGG 0.602000 36 36 0 0 0.003755 0 0 DGKI 9162 broad.mit.edu 37 7 137237207 137237207 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:137237207C>T uc003vtt.3 - 19 2056 c.2055G>A c.(2053-2055)agG>agA p.R685R DGKI_uc003vtu.3_Silent_p.R385R NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 685 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CTGGGGCCAACCTACAGGGCT 0.512000 53 113 0 0 0.014410 0 0 FCGBP 8857 broad.mit.edu 37 19 40357497 40357497 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:40357497G>A uc002omp.4 - 33 15824 c.15816C>T c.(15814-15816)atC>atT p.I5272I NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5272 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTACCAGGGGATGGTATTCT 0.582000 35 18 0 0 0.008871 0 0 LRRC14 9684 broad.mit.edu 37 8 145745204 145745204 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:145745204C>T uc003zdk.2 + 1 269 c.95C>T c.(94-96)cCc>cTc p.P32L RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.P32L NM_014665 NP_055480 Q15048 LRC14_HUMAN Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA. 32 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GAACTCTTCCCCCTGCTGTTC 0.607000 30 28 0 0 0.007291 0 0 CLDN1 9076 broad.mit.edu 37 3 190026224 190026224 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:190026224C>T uc003fsh.3 - 3 718 c.478G>A c.(478-480)Gaa>Aaa p.E160K NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 160 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TGACCAAATTCGTACCTAAAA 0.398000 27 17 0 0 0.008871 0 0 HSPG2 3339 broad.mit.edu 37 1 22169278 22169278 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:22169278G>A uc009vqd.3 - 66 8938 c.8898C>T c.(8896-8898)ctC>ctT p.L2966L HSPG2_uc001bfj.3_Silent_p.L2965L NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2965 Ig-like C2-type 15. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.L2965P(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCGGGCGGGGAGGCTGCCCC 0.617000 15 43 0 0 0.014410 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814722 106814722 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:106814722G>A uc003ymd.3 + 7 2435 c.2412G>A c.(2410-2412)acG>acA p.T804T ZFPM2_uc011lhs.2_Silent_p.T535T NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 804 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 p.T804T(2) 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) CTTCTCTGACGATCAACAAGT 0.443000 6 6 0 0 0.001168 0 0 ZBTB49 166793 broad.mit.edu 37 4 4304110 4304110 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:4304110C>T uc003ghu.3 + 2 722 c.547C>T c.(547-549)Cgt>Tgt p.R183C ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'UTR NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 ATCAGTTAATCGTCATCACTC 0.443000 39 9 0 0 0.006214 0 0 HKR1 284459 broad.mit.edu 37 19 37853243 37853243 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:37853243C>T uc002ogb.3 + 5 815 c.546C>T c.(544-546)ctC>ctT p.L182L HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002oga.3_Silent_p.L164L|HKR1_uc010xto.2_Silent_p.L164L|HKR1_uc002ogc.3_Silent_p.L163L|HKR1_uc010xtp.2_Silent_p.L121L|HKR1_uc002ogd.3_Silent_p.L121L NM_181786 NP_861451 P10072 HKR1_HUMAN Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA. 182 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTCCAGACTCCTGTTTGGGA 0.478000 13 16 0 0 0.004007 0 0 MSR1 4481 broad.mit.edu 37 8 16026061 16026061 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:16026061G>A uc010lsu.3 - 3 654 c.590C>T c.(589-591)tCc>tTc p.S197F MSR1_uc003wwz.3_Missense_Mutation_p.S179F|MSR1_uc003wxa.3_Missense_Mutation_p.S179F|MSR1_uc003wxb.3_Missense_Mutation_p.S179F|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 179 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ACTTATTAAGGACTTGGAGAT 0.368000 36 24 0 0 0.004656 0 0 OTUD7A 161725 broad.mit.edu 37 15 31851329 31851329 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:31851329G>A uc001zfq.3 - 2 486 c.393C>T c.(391-393)tcC>tcT p.S131S OTUD7A_uc001zfr.3_Silent_p.S131S|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Silent_p.S131S NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 131 cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TTGCCACGTGGGACCGGGCCA 0.582000 18 20 0 0 0.003330 0 0 SETMAR 6419 broad.mit.edu 37 3 4355387 4355387 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:4355387C>T uc011asp.2 + 1 1029 c.962C>T c.(961-963)cCc>cTc p.P321L SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.P308L|SETMAR_uc011asq.2_Missense_Mutation_p.P182L|SETMAR_uc003bpy.4_Missense_Mutation_p.P43L|SETMAR_uc011asr.2_Missense_Mutation_p.P65L|SETMAR_uc010hbx.3_Missense_Mutation_p.P116L NM_006515 NP_006506 Q53H47 SETMR_HUMAN Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA. 308 Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) GAGAAGGAACCCAGCATGTGT 0.502000 Chromatin Structure 35 35 0 0 0.004289 0 0 NEURL 9148 broad.mit.edu 37 10 105350068 105350068 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:105350068C>T uc001kxh.3 + 5 2074 c.1664C>T c.(1663-1665)gCc>gTc p.A555V SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Missense_Mutation_p.A538V NM_004210 NP_004201 O76050 NEU1A_HUMAN Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA. 555 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GCTCTGCACGCCTGCTGCCCC 0.612000 11 15 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9075414 9075414 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:9075414G>A uc002mkp.3 - 2 12236 c.12032C>T c.(12031-12033)tCc>tTc p.S4011F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4013 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCAAGAAGGAATTAGGCTC 0.478000 35 26 0 0 0.003954 0 0 KIAA1109 84162 broad.mit.edu 37 4 123183929 123183929 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:123183929C>T uc003ieh.3 + 40 6818 c.6773C>T c.(6772-6774)cCa>cTa p.P2258L KIAA1109_uc003iel.1_Missense_Mutation_p.P193L|KIAA1109_uc003iek.2_Missense_Mutation_p.P877L NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2258 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGCATTCACCCATATCATTCT 0.413000 14 38 0 0 0.008740 0 0 GPR157 80045 broad.mit.edu 37 1 9171506 9171506 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:9171506C>T uc001apq.1 - 1 569 c.426G>A c.(424-426)ctG>ctA p.L142L GPR157_uc010oad.1_Silent_p.L142L|GPR157_uc001apr.3_Silent_p.L142L NM_024980 NP_079256 Q5UAW9 GP157_HUMAN Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA. 142 integral to membrane|plasma membrane G-protein coupled receptor activity p.A141T(1) lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CAATCTTCTTCAGGGCGACGG 0.622000 OREG0013073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 11 0 0 0.010729 0 0 CCDC33 80125 broad.mit.edu 37 15 74625049 74625049 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:74625049C>T uc002axo.3 + 15 2195 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S CCDC33_uc002axp.3_Missense_Mutation_p.P423S|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.P194S|CCDC33_uc002axr.3_Missense_Mutation_p.P194S NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 804 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTCTGGCCTTCCCTTGGGTTC 0.577000 81 57 0 0 0.014410 0 0 NUMB 8650 broad.mit.edu 37 14 73753939 73753939 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:73753939C>T uc001xny.1 - 8 854 c.534G>A c.(532-534)gtG>gtA p.V178V NUMB_uc010aro.1_Silent_p.V178V|NUMB_uc010arp.1_Silent_p.V167V|NUMB_uc010arq.1_Silent_p.V178V|NUMB_uc010arr.1_Silent_p.V167V|NUMB_uc001xoa.1_Silent_p.V178V|NUMB_uc001xnz.1_Silent_p.V167V|NUMB_uc001xob.1_Silent_p.V167V|NUMB_uc001xod.1_Silent_p.V178V|NUMB_uc001xoc.1_Silent_p.V178V|NUMB_uc010ars.1_Silent_p.V167V|NUMB_uc001xof.1_Silent_p.V142V|NUMB_uc001xog.3_Silent_p.V167V|NUMB_uc001xoh.1_Silent_p.V167V|NUMB_uc010ttz.1_5'Flank NM_001005743 NP_001005743 P49757 NUMB_HUMAN Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA. 178 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) AAGTAGCAGTCACTCCACATT 0.473000 5 27 0 0 0.003954 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857449 68857449 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:68857449G>A uc001jmz.1 + 2 2191 c.1641G>A c.(1639-1641)acG>acA p.T547T CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA. 547 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CCTTTGAAACGAATGCACAGG 0.463000 37 27 0 0 0.003954 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170795 207170795 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:207170795G>A uc002vbp.2 + 4 1793 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 515 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATCTGTAACAGAAGTAAACCT 0.423000 23 31 0 0 0.009535 0 0 FAM83F 113828 broad.mit.edu 37 22 40415294 40415294 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:40415294C>A uc003ayk.1 + 1 706 c.612C>A c.(610-612)ttC>ttA p.F204L NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 204 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGAAGTATTTCCTGGAGATGT 0.522000 30 52 2.12129e-23 2.54896e-23 0.014410 1 0 PDXK 8566 broad.mit.edu 37 21 45168938 45168938 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:45168938C>T uc002zdm.4 + 5 639 c.441C>T c.(439-441)atC>atT p.I147I PDXK_uc002zdn.4_Silent_p.I119I NM_003681 NP_003672 O00764 PDXK_HUMAN Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA. 147 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CAGACATTATCACGCCCAACC 0.468000 20 15 0 0 0.004007 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173659871 173659871 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:173659871G>A uc002uhv.4 + 1 371 c.184G>A c.(184-186)Gag>Aag p.E62K RAPGEF4_uc002uhu.2_Missense_Mutation_p.E62K|RAPGEF4_uc010fqn.3_Missense_Mutation_p.E45K NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 62 G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TGGTTATTATGAGAATCTGGA 0.328000 31 70 0 0 0.014410 0 0 PDCD6 10016 broad.mit.edu 37 5 271859 271859 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:271859C>T uc003jat.1 + 0 124 c.24C>T c.(22-24)ccC>ccT p.P8P PDCD6_uc010isw.1_Silent_p.P40P|PDCD6_uc003jas.3_Silent_p.P40P|PDCD6_uc003jau.1_Silent_p.P40P NM_013232 NP_037364 O75340 PDCD6_HUMAN Homo sapiens programmed cell death 6 (PDCD6), mRNA. 8 induction of apoptosis by extracellular signals|response to calcium ion endoplasmic reticulum membrane|nuclear membrane binding, bridging|calcium ion binding|calcium-dependent protein binding p.A12_G15delAGPG(2) breast(2)|endometrium(1)|large_intestine(4)|lung(1) 8 Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113) CTTACCGCCCCGGCCCTGGGG 0.736000 11 19 0 0 0.012319 0 0 ZP1 22917 broad.mit.edu 37 11 60637865 60637865 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:60637865G>A uc001nqd.3 + 3 763 c.743G>A c.(742-744)aGa>aAa p.R248K ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 248 P-type. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGCATCGTGAGAAGAACTTCA 0.572000 17 16 0 0 0.004990 0 0 FGA 2243 broad.mit.edu 37 4 155508667 155508667 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:155508667C>T uc003iod.1 - 3 565 c.507G>A c.(505-507)ctG>ctA p.L169L FGA_uc003ioe.1_Silent_p.L169L|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 169 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TACTTACCTCCAGTCGTTTCA 0.428000 26 4 0 0 0.009096 0 0 MED12L 116931 broad.mit.edu 37 3 151073743 151073743 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:151073743C>T uc003eyp.3 + 16 2601 c.2472C>T c.(2470-2472)ctC>ctT p.L824L MED12L_uc011bnz.2_Silent_p.L684L|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'UTR NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 824 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTATCATCTCCCTTTGGCTC 0.393000 57 31 0 0 0.013726 0 0 ZNF574 64763 broad.mit.edu 37 19 42584278 42584278 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:42584278A>G uc002osk.4 + 1 2025 c.1790A>G c.(1789-1791)aAg>aGg p.K597R ZNF574_uc002osm.4_Missense_Mutation_p.K507R|ZNF574_uc021uva.1_Missense_Mutation_p.K507R NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN Homo sapiens zinc finger protein 574 (ZNF574), mRNA. 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) TTCAAGAAGAAGTCTCACGTG 0.587000 123 123 0 0 0.014410 0 0 DMBT1 1755 broad.mit.edu 37 10 124380872 124380872 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:124380872G>A uc001lgk.1 + 40 5303 c.5197G>A c.(5197-5199)Gaa>Aaa p.E1733K DMBT1_uc001lgl.1_Missense_Mutation_p.E1723K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1105K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1733K|DMBT1_uc021qag.1_Missense_Mutation_p.E1723K|DMBT1_uc021qah.1_Missense_Mutation_p.E1105K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1733K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.E436K|DMBT1_uc009yac.1_Missense_Mutation_p.E47K NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1733 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.E1733K(1)|p.E1862K(1) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGCCATCACGAAGACGCTGG 0.557000 27 26 0 0 0.004656 0 0 ELANE 1991 broad.mit.edu 37 19 855989 855989 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:855989G>A uc002lqb.3 + 4 667 c.629G>A c.(628-630)gGg>gAg p.G210E NM_001972 NP_001963 P08246 ELNE_HUMAN Homo sapiens elastase, neutrophil expressed (ELANE), mRNA. 210 Peptidase S1. G -> V (in GFI1). cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding p.N209I(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GTCTGCAACGGGCTAATCCAC 0.662000 51 38 0 0 0.010771 0 0 PCLO 27445 broad.mit.edu 37 7 82785130 82785130 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:82785130C>T uc003uhx.2 - 1 1116 c.827G>A c.(826-828)cGa>cAa p.R276Q PCLO_uc003uhv.2_Missense_Mutation_p.R276Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 276 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 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 GGATGCATCTCGTTGAAGTGG 0.473000 31 61 0 0 0.014410 0 0 FUT3 2525 broad.mit.edu 37 19 5843890 5843890 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:5843890G>A uc002mdk.2 - 1 1058 c.961C>T c.(961-963)Cgc>Tgc p.R321C FUT3_uc002mdm.2_Missense_Mutation_p.R321C|FUT3_uc002mdj.2_Missense_Mutation_p.R321C|FUT3_uc002mdl.2_Missense_Mutation_p.R321C|FUT3_uc021unn.1_Missense_Mutation_p.R321C NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 321 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TCCCGCCAGCGAAAGTAGCTC 0.637000 27 18 0 0 0.006320 0 0 FLG 2312 broad.mit.edu 37 1 152286482 152286482 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:152286482C>T uc001ezu.1 - 2 916 c.880G>A c.(880-882)Gga>Aga p.G294R AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 294 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R293K(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTCTGGATCCCCTACGCTTT 0.507000 Ichthyosis 177 49 0 0 0.014410 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101595951 101595951 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:101595951C>T uc003knm.3 - 5 1381 c.1094G>A c.(1093-1095)gGa>gAa p.G365E NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 365 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AATACTTTTTCCAAATTTCAC 0.323000 1 7 0 0 0.006214 0 0 GNAZ 2781 broad.mit.edu 37 22 23438121 23438121 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:23438121C>T uc002zwu.1 + 1 776 c.239C>T c.(238-240)tCg>tTg p.S80L RTDR1_uc002zwt.3_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA. 80 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity p.S80L(2) endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCCATCGACTCGCTGACCCGC 0.617000 271 41 0 0 0.014410 0 0 KLK8 11202 broad.mit.edu 37 19 51503857 51503857 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:51503857G>A uc002puq.1 - 2 374 c.188C>T c.(187-189)cCt>cTt p.P63L KLK9_uc002puw.1_Intron|KLK8_uc002pur.1_Intron|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Intron|KLK8_uc002puv.1_Intron NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 23 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) AGGAGGGAGAGGGTTGGATCG 0.617000 34 44 0 0 0.010771 0 0 ZIC1 7545 broad.mit.edu 37 3 147128811 147128811 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:147128811C>T uc003ewe.3 + 0 1631 c.912C>T c.(910-912)tgC>tgT p.C304C NM_003412 NP_003403 Q15915 ZIC1_HUMAN Homo sapiens Zic family member 1 (ZIC1), mRNA. 304 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CCTTTCCCTGCCCCTTCCCTG 0.577000 29 18 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179485149 179485149 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179485149C>T uc021vsy.1 - 196 38620 c.38395G>A c.(38395-38397)Gat>Aat p.D12799N MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D6494N|TTN_uc021vta.1_Missense_Mutation_p.D6427N|TTN_uc021vtb.1_Missense_Mutation_p.D6302N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13726 Ig-like 85. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACCTTCATCTGGGAAGCCA 0.423000 94 37 0 0 0.003755 0 0 NDN 4692 broad.mit.edu 37 15 23932237 23932237 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:23932237C>T uc001ywk.3 - 0 214 c.128G>A c.(127-129)aGc>aAc p.S43N NM_002487 NP_002478 Q99608 NECD_HUMAN Homo sapiens necdin homolog (mouse) (NDN), mRNA. 43 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TAGAGGAGGGCTCTGCGGCTC 0.731000 Prader-Willi syndrome 8 12 0 0 0.013537 0 0 LILRB4 11006 broad.mit.edu 37 19 55175309 55175310 + Missense_Mutation DNP GG AA AA TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:55175309_55175310GG>AA uc002qgp.3 + 2 530_531 c.168_169GG>AA c.(166-171)cgggag>cgAAag p.E57K LILRB4_uc002qgo.1_Missense_Mutation_p.E98K|LILRB4_uc002qgq.3_Missense_Mutation_p.E57K|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.E98K|LILRB4_uc010eru.3_Missense_Mutation_p.E86K 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. 57 Ig-like C2-type 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) TGGAGGCTCGGGAGTACCGTCT 0.604000 43 44 0 0 0.004672 0 0 PPFIA2 8499 broad.mit.edu 37 12 81851624 81851624 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:81851624C>T uc001szo.2 - 4 486 c.325G>A c.(325-327)Gaa>Aaa p.E109K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E35K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E35K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E109K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E109K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E91K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E109K|PPFIA2_uc010sue.2_Missense_Mutation_p.E9K NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 35 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GCATTTAATTCTTTTGTCAGT 0.294000 0 9 0 0 0.008291 0 0 ACSM5 54988 broad.mit.edu 37 16 20451735 20451735 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:20451735G>A uc002dhe.3 + 13 1873 c.1726G>A c.(1726-1728)Gag>Aag p.E576K NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 576 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCGAAGTCAGGAGTGGGGGAA 0.488000 31 22 0 0 0.003330 0 0 CD163 9332 broad.mit.edu 37 12 7640104 7640104 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:7640104C>T uc001qsz.3 - 7 2029 c.1901G>A c.(1900-1902)gGa>gAa p.G634E CD163_uc001qta.3_Missense_Mutation_p.G634E|CD163_uc009zfw.2_Missense_Mutation_p.G667E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 634 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ACGTGCTCCTCCTGGGGTAGA 0.502000 82 53 0 0 0.014410 0 0 COL6A1 1291 broad.mit.edu 37 21 47421964 47421964 + Silent SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:47421964G>T uc002zhu.1 + 30 2148 c.2046G>T c.(2044-2046)cgG>cgT p.R682R COL6A1_uc002zhv.1_Silent_p.R13R NM_001848 NP_001839 P12109 CO6A1_HUMAN Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA. 682 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CCAGCATCCGGAACGTGCAGG 0.692000 10 8 0.00621372 0.00726152 0.006214 1 0 RGPD4 285190 broad.mit.edu 37 2 108476245 108476245 + Missense_Mutation SNP A G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:108476245A>G uc010ywk.2 + 11 1784 c.1702A>G c.(1702-1704)Aaa>Gaa p.K568E RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 568 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGCCCAGGAAAAACATGGCCT 0.333000 26 59 0 0 0.014410 0 0 SLC16A4 9122 broad.mit.edu 37 1 110906415 110906415 + Silent SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:110906415G>C uc001dzo.2 - 8 1687 c.1437C>G c.(1435-1437)gcC>gcG p.A479A SLC16A4_uc009wfs.2_Silent_p.A431A|SLC16A4_uc001dzp.2_Silent_p.A311A|SLC16A4_uc010ovy.2_Silent_p.A417A|SLC16A4_uc010ovz.2_Missense_Mutation_p.P376R|SLC16A4_uc001dzq.2_Silent_p.A249A NM_004696 NP_004687 O15374 MOT5_HUMAN Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA. 479 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) TCCATCTTTCGGCCAATGGTA 0.373000 34 5 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179437457 179437457 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179437457C>T uc021vsy.1 - 274 65923 c.65698G>A c.(65698-65700)Gaa>Aaa p.E21900K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15595K|TTN_uc021vta.1_Missense_Mutation_p.E15528K|TTN_uc021vtb.1_Missense_Mutation_p.E15403K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22827 Fibronectin type-III 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E15528K(1)|p.E15595K(1)|p.E15403K(1)|p.E21898K(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) TCTAAAGATTCTCCATGGTCC 0.453000 72 16 0 0 0.004007 0 0 SMG1 23049 broad.mit.edu 37 16 18844299 18844299 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:18844299C>T uc002dfm.3 - 50 9118 c.8755G>A c.(8755-8757)Gaa>Aaa p.E2919K SMG1_uc010bwb.3_Missense_Mutation_p.E2779K|SMG1_uc010bwa.3_Missense_Mutation_p.E1650K NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 2919 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GTTTCTTCTTCCAGTCCCATA 0.493000 130 85 0 0 0.014410 0 0 TRIM31 11074 broad.mit.edu 37 6 30071943 30071943 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:30071943C>T uc003npg.1 - 8 1069 c.959_splice c.e8-1 p.W320_splice TRIM31_uc003npi.3_Splice_Site NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 320 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 GTAACAAGCCCCCTAAAAATT 0.403000 48 17 0 0 0.004007 0 0 SLC12A8 84561 broad.mit.edu 37 3 124826656 124826656 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:124826656G>A uc003ehw.4 - 9 1531 c.1461C>T c.(1459-1461)ttC>ttT p.F487F SLC12A8_uc003ehv.4_Silent_p.F458F|SLC12A8_uc003eht.4_Silent_p.F259F|SLC12A8_uc010hry.3_Silent_p.F211F NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 458 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TGTCCTTGGTGAATTCCAGTA 0.557000 42 40 0 0 0.006999 0 0 KIF26B 55083 broad.mit.edu 37 1 245849702 245849702 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:245849702C>T uc001ibf.1 + 11 3857 c.3417C>T c.(3415-3417)tcC>tcT p.S1139S KIF26B_uc001ibg.1_Silent_p.S757S|KIF26B_uc001ibh.1_Silent_p.S381S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 1139 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGAAAAAATCCATGTCTGCTG 0.587000 25 44 0 0 0.014410 0 0 CFTR 1080 broad.mit.edu 37 7 117251635 117251635 + Splice_Site SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:117251635G>A uc003vjd.3 + 20 3272 c.3140_splice c.e20-1 p.G1047_splice CFTR_uc011knq.2_Splice_Site_p.G453_splice NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1047 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TATTTCACAGGCAGGAGTCCA 0.338000 Cystic Fibrosis 40 14 0 0 0.002450 0 0 OLFML3 56944 broad.mit.edu 37 1 114523630 114523630 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:114523630C>T uc001eer.1 + 2 569 c.460C>T c.(460-462)Cca>Tca p.P154S OLFML3_uc001ees.1_Missense_Mutation_p.P134S|OLFML3_uc001eet.1_Missense_Mutation_p.P10S NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN Homo sapiens olfactomedin-like 3 (OLFML3), mRNA. 154 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTTGGTGGCCCAGCTGGTCT 0.473000 7 15 0 0 0.004007 0 0 DOCK4 9732 broad.mit.edu 37 7 111503501 111503501 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:111503501C>T uc003vfy.3 - 22 2669 c.2400G>A c.(2398-2400)gtG>gtA p.V800V DOCK4_uc003vfw.3_Silent_p.V241V|DOCK4_uc003vfx.3_Silent_p.V800V|DOCK4_uc003vga.1_Silent_p.V405V NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 800 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GGGAATCATCCACATGCAGGA 0.532000 21 36 0 0 0.008740 0 0 RGS5 8490 broad.mit.edu 37 1 163172599 163172599 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:163172599G>A uc001gcn.3 - 0 365 c.27C>T c.(25-27)ccC>ccT p.P9P RGS5_uc021pdu.1_Intron|RGS5_uc021pdt.1_Silent_p.P9P|RGS5_uc009wvb.3_5'UTR NM_003617 NP_003608 O15539 RGS5_HUMAN Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA. 9 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.P9P(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) GGCATGAGTGGGGCAAAGCTG 0.448000 23 11 0 0 0.010729 0 0 DOC2A 8448 broad.mit.edu 37 16 30018394 30018394 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:30018394G>A uc002dvn.3 - 6 863 c.672C>T c.(670-672)tcC>tcT p.S224S BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.S224S|DOC2A_uc002dvp.3_Silent_p.S224S|DOC2A_uc002dvq.3_Silent_p.S224S NM_003586 NP_003577 Q14183 DOC2A_HUMAN Homo sapiens double C2-like domains, alpha (DOC2A), mRNA. 224 Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 CCGCTGACATGGAAGAGGGGG 0.677000 18 11 0 0 0.010729 0 0 FLCN 201163 broad.mit.edu 37 17 17118316 17118316 + Silent SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:17118316G>C uc002gra.4 - 12 2025 c.1521C>G c.(1519-1521)ctC>ctG p.L507L PLD6_uc010cpn.3_Non-coding_Transcript NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. 507 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 ACTCCTCCTTGAGGCAGACGA 0.567000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 31 13 0 0 0.006122 0 0 ZNF506 440515 broad.mit.edu 37 19 19905887 19905888 + Missense_Mutation DNP GC TT TT TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:19905887_19905888GC>TT uc010eci.2 - 3 956_957 c.808_809GC>AA c.(808-810)gca>AAa p.A270K ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.A238K NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA. 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 AAAAAGGGTTGCAGGGTGGTTA 0.376000 24 13 0 0 0.004672 0 0 DNAH9 1770 broad.mit.edu 37 17 11556195 11556195 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:11556195C>T uc002gne.3 + 13 2539 c.2471C>T c.(2470-2472)cCa>cTa p.P824L DNAH9_uc010coo.3_Missense_Mutation_p.P118L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 824 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGGGTGACTCCAATATTTAAG 0.358000 3 31 0 0 0.003755 0 0 KIF5C 3800 broad.mit.edu 37 2 149806454 149806454 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:149806454G>A uc010zbu.2 + 8 1211 c.816G>A c.(814-816)ggG>ggA p.G272G KIF5C_uc002tws.1_Non-coding_Transcript NM_004522 NP_004513 O60282 KIF5C_HUMAN Homo sapiens kinesin family member 5C (KIF5C), mRNA. 272 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) TGGCAGAAGGGACAGTAAGTG 0.453000 3 15 0 0 0.007413 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161021208 161021208 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:161021208G>A uc001fxl.3 - 9 1662 c.1316C>T c.(1315-1317)tCc>tTc p.S439F ARHGAP30_uc001fxk.3_Missense_Mutation_p.S439F|ARHGAP30_uc001fxm.3_Missense_Mutation_p.S285F|ARHGAP30_uc009wtx.3_Missense_Mutation_p.S112F|ARHGAP30_uc001fxn.1_Missense_Mutation_p.S285F NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 439 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCTGGCCAAGGAAACGTTAGA 0.632000 19 29 0 0 0.009535 0 0 DPPA4 55211 broad.mit.edu 37 3 109050810 109050810 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:109050810G>A uc003dxq.4 - 2 302 c.247C>T c.(247-249)Cca>Tca p.P83S DPPA4_uc011bho.2_Missense_Mutation_p.P83S|DPPA4_uc011bhp.1_Missense_Mutation_p.P83S NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 83 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GAAGGTAATGGAGGGATTGGT 0.488000 53 40 0 0 0.007835 0 0 PRR12 57479 broad.mit.edu 37 19 50099086 50099086 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:50099086C>T uc002poo.4 + 3 1494 c.1494C>T c.(1492-1494)tcC>tcT p.S498S NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 269 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGAGCTACTCCCCGGACCAGC 0.711000 10 8 0 0 0.003080 0 0 SEC14L1 6397 broad.mit.edu 37 17 75190973 75190973 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:75190973C>T uc010dhc.3 + 6 1009 c.689C>T c.(688-690)cCc>cTc p.P230L SEC14L1_uc021udv.1_Missense_Mutation_p.P230L|SEC14L1_uc021udw.1_Missense_Mutation_p.P230L|SEC14L1_uc021udx.1_Missense_Mutation_p.P230L|SEC14L1_uc002jto.3_Missense_Mutation_p.P230L|SEC14L1_uc010wth.2_Missense_Mutation_p.P230L|SEC14L1_uc002jtm.3_Missense_Mutation_p.P230L|SEC14L1_uc010wti.2_Missense_Mutation_p.P196L NM_001039573 NP_001191337 Q92503 S14L1_HUMAN Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA. 230 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GCACCTGAGCCCGTGGTGGGC 0.632000 10 44 0 0 0.009718 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725653 168725653 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:168725653C>T uc021vsc.1 + 0 104 c.104C>T c.(103-105)tCc>tTc p.S35F B3GALT1_uc002udz.1_Missense_Mutation_p.S35F NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 35 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TACACTGGCTCCAAACCATTC 0.443000 83 22 0 0 0.014323 0 0 COL7A1 1294 broad.mit.edu 37 3 48619352 48619352 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:48619352C>T uc003ctz.2 - 46 4661 c.4660G>A c.(4660-4662)Gga>Aga p.G1554R COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1554 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCTTTTCTCCTTTGGGTCCA 0.517000 22 113 0 0 0.014410 0 0 ELAVL2 1993 broad.mit.edu 37 9 23705041 23705041 + Missense_Mutation SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:23705041G>C uc003zpu.3 - 3 637 c.362C>G c.(361-363)tCt>tGt p.S121C ELAVL2_uc003zps.3_Missense_Mutation_p.S121C|ELAVL2_uc003zpt.3_Missense_Mutation_p.S121C|ELAVL2_uc003zpv.3_Missense_Mutation_p.S121C|ELAVL2_uc003zpw.3_Missense_Mutation_p.S121C NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 121 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) ATCTCTGATAGAAGCTGAACT 0.383000 2 22 0 0 0.004656 0 0 TCERG1L 256536 broad.mit.edu 37 10 133107541 133107541 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:133107541G>A uc001lkp.3 - 1 450 c.364C>T c.(364-366)Ccg>Tcg p.P122S NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA. 122 p.P81S(1)|p.P81*(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CCTAGGGACGGAGAATGGCCA 0.527000 19 6 0 0 0.003080 0 0 OR52K1 390036 broad.mit.edu 37 11 4510401 4510401 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:4510401G>A uc001lza.2 + 0 293 c.271G>A c.(271-273)Gat>Aat p.D91N NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTGGTTCAGGGATCAGGAGAT 0.498000 10 14 0 0 0.003163 0 0 CLEC4G 339390 broad.mit.edu 37 19 7796936 7796936 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:7796936C>T uc002mhp.4 - 0 122 c.53G>A c.(52-54)gGa>gAa p.G18E CLEC4G_uc021uny.1_Intron NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA. 18 integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 GCTCATACCTCCGGGGACCTC 0.627000 26 10 0 0 0.010729 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140769061 140769061 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:140769061C>T uc003lkc.2 + 0 1610 c.1610C>T c.(1609-1611)tCg>tTg p.S537L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 541 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R537P(1)|p.R537Q(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCAGGGCTCGCCAGCGCTC 0.692000 3 28 0 0 0.005443 0 0 CSMD1 64478 broad.mit.edu 37 8 2813132 2813132 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:2813132C>T uc022aqr.1 - 63 10363 c.9973G>A c.(9973-9975)Gga>Aga p.G3325R CSMD1_uc011kwj.2_Missense_Mutation_p.G2655R|CSMD1_uc010lrg.3_Missense_Mutation_p.G1217R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3326 Sushi 28. 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) GGCGACTTTCCTGTCCATTTC 0.483000 26 19 0 0 0.010504 0 0 TTLL1 25809 broad.mit.edu 37 22 43471559 43471559 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:43471559C>T uc003bdi.3 - 2 275 c.34G>A c.(34-36)Gag>Aag p.E12K TTLL1_uc010gzh.3_Missense_Mutation_p.E12K|TTLL1_uc021wqt.1_5'UTR|TTLL1_uc003bdj.3_5'UTR NM_012263 NP_036395 O95922 TTLL1_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA. 12 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity p.I11I(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) ACTGACTTCTCGATATCAGTG 0.408000 71 140 0 0 0.014410 0 0 CDCA7 83879 broad.mit.edu 37 2 174224179 174224179 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:174224179C>T uc002uic.1 + 2 475 c.344C>T c.(343-345)tCa>tTa p.S115L CDCA7_uc002uid.1_Intron|CDCA7_uc010zej.1_Missense_Mutation_p.S71L|CDCA7_uc010zek.1_Intron NM_031942 NP_114148 Q9BWT1 CDCA7_HUMAN Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA. 37 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GACGATGAATCATTTTGCGGT 0.403000 12 36 0 0 0.005524 0 0 NPHS2 7827 broad.mit.edu 37 1 179523625 179523625 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:179523625C>T uc001gmq.4 - 5 865 c.780G>A c.(778-780)gtG>gtA p.V260V AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Silent_p.V192V|AXDND1_uc001gmr.3_Intron NM_014625 NP_055440 Q9NP85 PODO_HUMAN Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA. 260 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 CTATTCTCTCCACTTTGATTC 0.378000 52 13 0 0 0.002450 0 0 NEB 4703 broad.mit.edu 37 2 152424920 152424920 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:152424920C>T uc021vrb.1 - 82 12572 c.12543G>A c.(12541-12543)cgG>cgA p.R4181R NEB_uc002txr.3_Silent_p.R647R|NEB_uc002txu.3_Silent_p.R5882R|NEB_uc021vrc.1_Silent_p.R5882R|NEB_uc010fnx.3_Silent_p.R4169R|NEB_uc021vrd.1_Silent_p.R4181R NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 4181 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCAGTCTTTCCGGTATTTAA 0.443000 41 10 0 0 0.010729 0 0 HRNR 388697 broad.mit.edu 37 1 152187704 152187704 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:152187704C>T uc001ezt.1 - 2 6477 c.6401G>A c.(6400-6402)gGa>gAa p.G2134E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2134 keratinization calcium ion binding|protein binding p.Y2133*(1)|p.Y2133Y(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTGTTGTCCGTAGCCAGA 0.562000 534 30 0 0 0.006999 0 0 IGSF10 285313 broad.mit.edu 37 3 151166294 151166294 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:151166294G>A uc011bod.2 - 3 1475 c.1475C>T c.(1474-1476)aCc>aTc p.T492I NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 492 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGGCCAACGGTTCCACCTAC 0.488000 105 84 0 0 0.014410 0 0 BCCIP 56647 broad.mit.edu 37 10 127520114 127520114 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:127520114C>T uc001ljd.4 + 4 560 c.537C>T c.(535-537)ctC>ctT p.L179L BCCIP_uc021qar.1_Silent_p.L179L|BCCIP_uc001ljb.4_Silent_p.L179L|BCCIP_uc001ljc.4_Silent_p.L179L|BCCIP_uc010quj.2_Silent_p.L149L NM_016567 NP_057651 Q9P287 BCCIP_HUMAN Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA. 179 Interaction with CDKN1A. DNA repair|cell cycle|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGGGCCTTCTCCTAAGTGAAA 0.428000 12 9 0 0 0.008291 0 0 RG9MTD1 54931 broad.mit.edu 37 3 101284124 101284124 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:101284124G>A uc003duz.3 + 1 647 c.499G>A c.(499-501)Gaa>Aaa p.E167K RG9MTD1_uc021xbw.1_Missense_Mutation_p.E167K NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA. 167 tRNA processing mitochondrion methyltransferase activity|protein binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 16 CAAGCTGCTAGAAACCACTGA 0.373000 24 19 0 0 0.008871 0 0 KHK 3795 broad.mit.edu 37 2 27317426 27317426 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:27317426C>T uc002ril.2 + 2 808 c.291C>T c.(289-291)gcC>gcT p.A97A KHK_uc002rim.2_Intron|KHK_uc002rio.2_Intron NM_000221 NP_000212 P50053 KHK_HUMAN Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA. 97 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCATCGCCACGGTCATCA 0.572000 59 17 0 0 0.007413 0 0 OR4A15 81328 broad.mit.edu 37 11 55136144 55136144 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:55136144G>A uc010rif.2 + 0 785 c.785G>A c.(784-786)cGa>cAa p.R262Q NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GAAGGGAAACGAAAAGCTTTC 0.438000 27 48 0 0 0.011902 0 0 HMOX2 3163 broad.mit.edu 37 16 4559688 4559688 + Silent SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:4559688C>A uc002cwr.4 + 6 1189 c.882C>A c.(880-882)ccC>ccA p.P294P HMOX2_uc010bts.3_Silent_p.P294P|HMOX2_uc002cwq.4_Silent_p.P294P|HMOX2_uc010btt.3_Silent_p.P294P|HMOX2_uc002cwt.3_Silent_p.P294P NM_001127204 NP_002125 P30519 HMOX2_HUMAN Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA. 294 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) TGAGGAAGCCCAGCCTCCAGT 0.602000 30 18 1.56452e-12 1.86491e-12 0.007413 1 0 LMO7 4008 broad.mit.edu 37 13 76374938 76374938 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:76374938C>T uc021rkq.1 + 6 916 c.581C>T c.(580-582)tCc>tTc p.S194F LMO7_uc010thv.2_Missense_Mutation_p.S246F|LMO7_uc001vjt.1_Missense_Mutation_p.S194F|LMO7_uc001vjv.3_5'UTR|LMO7_uc010thw.2_Missense_Mutation_p.S155F|LMO7_uc001vju.1_Non-coding_Transcript NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 246 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AGAGAAGATTCCTTTGAAAGC 0.502000 117 41 0 0 0.007835 0 0 KRT9 3857 broad.mit.edu 37 17 39723922 39723922 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:39723922C>T uc002hxe.4 - 6 1541 c.1475G>A c.(1474-1476)gGa>gAa p.G492E JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 492 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) gcctccacttcctcccctgga 0.547000 0 8 0 0 0.003080 0 0 GPR115 221393 broad.mit.edu 37 6 47682499 47682499 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:47682499C>T uc003oyz.1 + 6 1689 c.1689C>T c.(1687-1689)ttC>ttT p.F563F GPR115_uc003oza.1_Silent_p.F506F|GPR115_uc003ozb.1_Silent_p.F506F|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 506 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGGTCATTTTCCGTAGGATGA 0.433000 115 38 0 0 0.010771 0 0 CHAT 1103 broad.mit.edu 37 10 50854651 50854651 + Silent SNP A C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:50854651A>C uc001jhz.2 + 7 1365 c.1212A>C c.(1210-1212)gcA>gcC p.A404A CHAT_uc001jhv.1_Silent_p.A286A|CHAT_uc001jhx.1_Silent_p.A286A|CHAT_uc001jhy.1_Silent_p.A286A|CHAT_uc001jia.2_Silent_p.A322A|CHAT_uc010qgs.1_Silent_p.A286A NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 404 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCCACAGGGCACTCCAGCTCC 0.632000 18 14 0 0 0.002450 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24345803 24345803 + RNA SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:24345803C>T uc010edb.1 - 0 c.447G>A Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. GATGCTCGTTCAAACAGTAGT 0.438000 147 86 0 0 0.014410 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698470 96698470 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:96698470C>T uc001kka.4 + 0 56 c.31C>T c.(31-33)Ctc>Ttc p.L11F CYP2C9_uc009xut.3_Missense_Mutation_p.L11F|CYP2C9_uc001kjz.3_Missense_Mutation_p.L11F NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 11 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGTGCTCTGTCTCTCATGTTT 0.473000 88 49 0 0 0.014410 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1706227 1706227 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:1706227C>T uc010uvh.2 + 8 1469 c.1469C>T c.(1468-1470)tCc>tTc p.S490F CRAMP1L_uc002cmf.3_Intron NM_020825 NP_065876 Q96RY5 CRML_HUMAN Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA. 490 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GGAGAGAGTTCCCCCGAAAGC 0.711000 27 13 0 0 0.001855 0 0 abParts 0 broad.mit.edu 37 14 106733470 106733470 + RNA SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:106733470G>A uc021ser.1 - 875 c.21089C>T Parts of antibodies, mostly variable regions. ACAGAGGAGTGGATGAGACAC 0.587000 69 43 0 0 0.008740 0 0 ROBO2 6092 broad.mit.edu 37 3 77671460 77671460 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:77671460G>A uc011bgk.2 + 23 4292 c.3649G>A c.(3649-3651)Gaa>Aaa p.E1217K ROBO2_uc021xat.1_Missense_Mutation_p.E1229K|ROBO2_uc003dpy.4_Missense_Mutation_p.E1213K|ROBO2_uc003dpz.3_Missense_Mutation_p.E1217K|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1213 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTCTGATTTGGAAACGGATGT 0.478000 4 26 0 0 0.005443 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367390 105367390 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:105367390C>T uc003ylx.1 + 2 1364 c.1315C>T c.(1315-1317)Cgg>Tgg p.R439W NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 439 osteoclast differentiation cell surface|integral to membrane|plasma membrane AGTCAAAAGACGGCTGAGTCT 0.473000 33 18 0 0 0.006122 0 0 ATG4C 84938 broad.mit.edu 37 1 63299788 63299788 + Splice_Site SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:63299788G>A uc001dat.3 + 8 1200 c.1012_splice c.e8+1 p.D338_splice ATG4C_uc001dau.3_Splice_Site_p.D338_splice NM_178221 NP_835739 Q96DT6 ATG4C_HUMAN Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA. 338 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 GGATTTCAAGGTTAGTGATTT 0.308000 22 43 0 0 0.009718 0 0 KATNAL1 84056 broad.mit.edu 37 13 30815100 30815100 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:30815100G>A uc001uss.3 - 4 717 c.616C>T c.(616-618)Cat>Tat p.H206Y KATNAL1_uc001ust.3_Missense_Mutation_p.H206Y NM_001014380 NP_115492 Q9BW62 KATL1_HUMAN Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA. 206 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity p.H206N(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) TCTAACCAATGAATGCTAGGA 0.363000 16 23 0 0 0.014323 0 0 CRB1 23418 broad.mit.edu 37 1 197407716 197407716 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:197407716G>A uc001gtz.3 + 9 3998 c.3789G>A c.(3787-3789)aaG>aaA p.K1263K CRB1_uc010poz.2_Silent_p.K1239K|CRB1_uc009wza.3_Silent_p.K1151K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.K727K|CRB1_uc010ppd.2_Silent_p.K744K|CRB1_uc001gub.1_Silent_p.K912K NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1263 EGF-like 18. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GGAATGAGAAGACAAATCTCA 0.428000 23 11 0 0 0.008291 0 0 METTL21B 25895 broad.mit.edu 37 12 58174204 58174204 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:58174204C>T uc001sqg.3 + 2 581 c.456C>T c.(454-456)atC>atT p.I152I TSFM_uc021qzq.1_5'Flank|METTL21B_uc001sqf.3_3'UTR|METTL21B_uc009zqd.3_Non-coding_Transcript|TSFM_uc001sqh.3_5'Flank|TSFM_uc001sqi.3_5'Flank|TSFM_uc010ssf.2_5'Flank|TSFM_uc010sse.2_5'Flank NM_015433 NP_056248 Q96AZ1 MT21B_HUMAN Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA. 152 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 GGGCTGATATCGTGTACCTGG 0.597000 4 40 0 0 0.014410 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681591 44681591 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:44681591C>T uc003bet.2 - 3 449 c.316G>A c.(316-318)Gga>Aga p.G106R NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN Homo sapiens KIAA1644 (KIAA1644), mRNA. 106 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) ACGAAAAATCCATAGATCCAC 0.527000 74 156 0 0 0.014410 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456270 84456270 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:84456270C>T uc010chj.3 + 8 899 c.810C>T c.(808-810)ttC>ttT p.F270F ATP2C2_uc002fhx.3_Silent_p.F270F|ATP2C2_uc002fhy.3_Silent_p.F287F|ATP2C2_uc002fhz.3_Silent_p.F119F NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 270 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCTCTCAGTTCGGAGAAGTGT 0.502000 150 113 0 0 0.014410 0 0 CSMD1 64478 broad.mit.edu 37 8 3038658 3038658 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:3038658G>A uc022aqr.1 - 36 6089 c.5699C>T c.(5698-5700)gCt>gTt p.A1900V CSMD1_uc011kwj.2_Missense_Mutation_p.A1293V|CSMD1_uc003wqe.3_Missense_Mutation_p.A1057V|CSMD1_uc010lrg.3_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1901 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) GAAACCAGCAGCTGCCACACT 0.408000 17 18 0 0 0.012319 0 0 PDILT 204474 broad.mit.edu 37 16 20396091 20396091 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:20396091C>T uc002dhc.1 - 2 508 c.285G>A c.(283-285)ggG>ggA p.G95G NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 95 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CAAAGCCGATCCCATTCTTGC 0.498000 212 149 0 0 0.014410 0 0 SCN1A 6323 broad.mit.edu 37 2 166848693 166848693 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:166848693C>T uc002udo.4 - 27 5319 c.5092G>A c.(5092-5094)Gaa>Aaa p.E1698K SCN1A_uc010fpk.3_Missense_Mutation_p.E1670K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1687K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1698 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATCCCAACTTCCCTCTTAACA 0.468000 115 27 0 0 0.005443 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902211 230902211 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:230902211G>A uc002vqd.2 - 4 1877 c.1418C>T c.(1417-1419)tCc>tTc p.S473F FBXO36_uc010fxi.1_Intron NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 473 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TATGTAGAAGGAAAAATCATA 0.323000 24 5 0 0 0.001168 0 0 UNC13C 440279 broad.mit.edu 37 15 54556499 54556499 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:54556499G>A uc021smr.1 + 6 3576 c.3576G>A c.(3574-3576)caG>caA p.Q1192Q UNC13C_uc021sms.1_Silent_p.Q1194Q|UNC13C_uc002acl.3_Silent_p.Q24Q NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1194 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) AAATGTTTCAGATTTCTAAAG 0.378000 14 3 0 0 0.009096 0 0 MGAM 8972 broad.mit.edu 37 7 141799452 141799452 + Missense_Mutation SNP C G G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:141799452C>G uc003vwy.3 + 43 5155 c.5101C>G c.(5101-5103)Cca>Gca p.P1701A NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1701 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAAGACCTTGCCAGCCCCTCT 0.527000 73 20 0 0 0.002780 0 0 DPYS 1807 broad.mit.edu 37 8 105405178 105405178 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:105405178T>C uc003yly.4 - 7 1406 c.1277A>G c.(1276-1278)aAc>aGc p.N426S DPYS_uc010mcf.1_5'UTR NM_001385 NP_001376 Q14117 DPYS_HUMAN Homo sapiens dihydropyrimidinase (DPYS), mRNA. 426 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTCGAAAATGTTGAAGTTAAC 0.428000 62 41 0 0 0.014410 0 0 CD33 945 broad.mit.edu 37 19 51738907 51738907 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:51738907C>T uc002pwa.2 + 5 940 c.900C>T c.(898-900)caC>caT p.H300H CD33_uc010eos.1_Silent_p.H300H|CD33_uc010eot.1_Silent_p.H173H|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 300 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 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) ATGACACCCACCCTACCACAG 0.607000 8 8 0 0 0.006214 0 0 TCTN2 79867 broad.mit.edu 37 12 124172683 124172683 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:124172683C>T uc001ufp.3 + 6 978 c.850C>T c.(850-852)Ccc>Tcc p.P284S TCTN2_uc009zya.3_Missense_Mutation_p.P283S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA. 284 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) ACAAGGAGATCCCATTATGAC 0.353000 6 63 0 0 0.014410 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84685243 84685243 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:84685243C>T uc002bjz.4 + 24 4489 c.4265C>T c.(4264-4266)cCg>cTg p.P1422L ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P1422L NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1422 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGAGAACCCCCGCCTCAAGGT 0.428000 7 11 0 0 0.013537 0 0 ABCA13 154664 broad.mit.edu 37 7 48559869 48559869 + Missense_Mutation SNP G T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:48559869G>T uc003toq.2 + 52 14054 c.14030G>T c.(14029-14031)tGg>tTg p.W4677L ABCA13_uc010kys.1_Missense_Mutation_p.W1752L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.W407L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4677 transport integral to membrane ATP binding|ATPase activity p.Q4677Q(1) 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 CTGCTACACTGGGACCTTCTG 0.512000 17 4 0.000602214 0.000706535 0.000602 1 0 MBL2 4153 broad.mit.edu 37 10 54528045 54528045 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:54528045C>T uc001jjt.3 - 3 664 c.599G>A c.(598-600)gGa>gAa p.G200E NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 200 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CAGTCTATTTCCTGTCAGATC 0.463000 86 56 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179442108 179442108 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:179442108C>T uc021vsy.1 - 272 61475 c.61250G>A c.(61249-61251)gGa>gAa p.G20417E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14112E|TTN_uc021vta.1_Missense_Mutation_p.G14045E|TTN_uc021vtb.1_Missense_Mutation_p.G13920E|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21344 Fibronectin type-III 48. 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) AATGTCTTTTCCTGCCTTGGA 0.398000 49 8 0 0 0.004482 0 0 OR4S2 219431 broad.mit.edu 37 11 55418383 55418383 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:55418383G>A uc001nhs.1 + 0 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CCATTCCATGGAAAAAATAAA 0.328000 18 10 0 0 0.006214 0 0 SAT2 112483 broad.mit.edu 37 17 7530080 7530080 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:7530080C>T uc002gic.2 - 4 577 c.336G>A c.(334-336)aaG>aaA p.K112K SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank NM_133491 NP_597998 Q96F10 SAT2_HUMAN Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA. 112 N-acetyltransferase. cytoplasm diamine N-acetyltransferase activity p.?(1) kidney(1)|large_intestine(2) 3 READ - Rectum adenocarcinoma(115;0.166) Spermine(DB00127) CCTCAGCCACCTTTTTGATTA 0.493000 9 31 0 0 0.003271 0 0 TNFSF9 8744 broad.mit.edu 37 19 6534954 6534954 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:6534954C>T uc002mfh.2 + 2 680 c.642C>T c.(640-642)gtC>gtT p.V214V NM_003811 NP_003802 P41273 TNFL9_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA. 214 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 GCCTGGGCGTCCATCTTCACA 0.682000 15 15 0 0 0.003163 0 0 KLK5 25818 broad.mit.edu 37 19 51453345 51453345 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:51453345G>A uc002pue.3 - 3 319 c.101C>T c.(100-102)tCc>tTc p.S34F KLK5_uc002puf.3_Missense_Mutation_p.S34F|KLK5_uc002pug.3_Missense_Mutation_p.S34F NM_001077491 NP_036559 Q9Y337 KLK5_HUMAN Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA. 34 Missing (in Ref. 3; AAG33358). epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GTGGTCACAGGAAACATCATT 0.632000 11 12 0 0 0.010729 0 0 RSPH9 221421 broad.mit.edu 37 6 43623367 43623367 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:43623367C>T uc003ovx.2 + 2 486 c.417C>T c.(415-417)atC>atT p.I139I RSPH9_uc003ovw.2_Silent_p.I154I NM_001193341 NP_001180270 Q9H1X1 RSPH9_HUMAN Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA. 154 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGGCCATCATCCCCCGAGGCG 0.592000 Kartagener syndrome 48 101 0 0 0.014410 0 0 PYGB 5834 broad.mit.edu 37 20 25252026 25252026 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:25252026C>T uc002wup.3 + 3 541 c.432C>T c.(430-432)ttC>ttT p.F144F NM_002862 NP_002853 P11216 PYGB_HUMAN Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA. 144 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CAGCGTGTTTCCTTGACTCAA 0.502000 76 78 0 0 0.014410 0 0 SP140 11262 broad.mit.edu 37 2 231112687 231112687 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:231112687G>A uc002vql.3 + 7 914 c.799G>A c.(799-801)Gag>Aag p.E267K SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.E267K|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.E241K|SP140_uc010fxl.3_Missense_Mutation_p.E267K NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 267 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGCACCAGGGGAGAAACAGGG 0.473000 25 41 0 0 0.006999 0 0 CCKBR 887 broad.mit.edu 37 11 6292273 6292273 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:6292273G>A uc001mcp.3 + 4 1099 c.844G>A c.(844-846)Gag>Aag p.E282K CCKBR_uc001mcq.3_Missense_Mutation_p.E210K|CCKBR_uc001mcr.3_Missense_Mutation_p.E282K|CCKBR_uc001mcs.3_Missense_Mutation_p.E351K|CCKBR_uc001mct.1_Non-coding_Transcript NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 282 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TTGCCGGCCTGAGACTGGCGC 0.672000 58 12 0 0 0.002450 0 0 APOL2 23780 broad.mit.edu 37 22 36627472 36627472 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:36627472C>T uc011amm.2 - 4 430 c.387G>A c.(385-387)caG>caA p.Q129Q APOL2_uc003aoz.3_Silent_p.Q17Q|APOL2_uc003apa.3_Silent_p.Q17Q NM_145637 NP_663612 Q9BQE5 APOL2_HUMAN Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA. 17 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding p.G128D(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 TCACTTGGTCCTGGAAATACT 0.463000 26 45 0 0 0.014410 0 0 AIM1L 55057 broad.mit.edu 37 1 26671766 26671766 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:26671766C>T uc001bmd.4 - 1 1533 c.1383G>A c.(1381-1383)agG>agA p.R461R NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 10. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TCACGACCTCCCTCTGGGTAA 0.602000 10 46 0 0 0.014410 0 0 THSD7B 80731 broad.mit.edu 37 2 137917850 137917850 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:137917850C>T uc002tva.1 + 4 1344 c.1344C>T c.(1342-1344)atC>atT p.I448I THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.I338I 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) TCTGCAATATCCCTTGCTCTA 0.517000 32 8 0 0 0.003080 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596309 24596309 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:24596309G>A uc011djo.2 - 2 1093 c.593C>T c.(592-594)tCt>tTt p.S198F KIAA0319_uc011djp.2_Missense_Mutation_p.S153F|KIAA0319_uc003neh.1_Missense_Mutation_p.S198F|KIAA0319_uc011djq.1_Missense_Mutation_p.S189F|KIAA0319_uc011djr.1_Missense_Mutation_p.S198F NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 198 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 GTCTCCAACAGAGGAGTTGAA 0.627000 26 6 0 0 0.001168 0 0 HRC 3270 broad.mit.edu 37 19 49657222 49657222 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:49657222C>T uc002pmv.3 - 0 1460 c.1273G>A c.(1273-1275)Gag>Aag p.E425K NM_002152 NP_002143 P23327 SRCH_HUMAN Homo sapiens histidine rich calcium binding protein (HRC), mRNA. 425 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCATCTTCCTCCCTGGGGACT 0.547000 52 55 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38946682 38946682 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:38946682C>T uc021wvy.1 - 11 1802 c.1603_splice c.e11+1 p.E535_splice NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 535 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTGGAACTTACCCTTCATGGT 0.493000 8 53 0 0 0.014410 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72505062 72505062 + Splice_Site SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr10:72505062G>A uc001jrg.3 + 15 2272 c.2272_splice c.e15+1 p.V758_splice ADAMTS14_uc001jrh.3_Splice_Site_p.V755_splice|ADAMTS14_uc001jri.1_Missense_Mutation_p.G278S NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 755 Spacer. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCACCGCATTGGTGAGTGCTG 0.622000 13 7 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82582544 82582544 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:82582544G>A uc003uhx.2 - 4 8014 c.7725C>T c.(7723-7725)tcC>tcT p.S2575S PCLO_uc003uhv.2_Silent_p.S2575S|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2506 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 TTTCTGTGAGGGATTTGGAAA 0.433000 87 157 0 0 0.014410 0 0 RASGRP4 115727 broad.mit.edu 37 19 38916724 38916724 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:38916724C>T uc021uub.1 - 0 222 c.8G>A c.(7-9)aGa>aAa p.R3K RASGRP4_uc021utz.1_Missense_Mutation_p.R3K|RASGRP4_uc021uua.1_Missense_Mutation_p.R3K|RASGRP4_uc021uuc.1_Missense_Mutation_p.R3K|RASGRP4_uc021uud.1_Missense_Mutation_p.R3K|RASGRP4_uc021uue.1_Missense_Mutation_p.R3K|RASGRP4_uc021uuf.1_Missense_Mutation_p.R3K NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA. 3 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding p.R3I(2) cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACTGTCTTTTCTGTTCATGCT 0.652000 10 6 0 0 0.003080 0 0 DNAH7 56171 broad.mit.edu 37 2 196737056 196737056 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:196737056G>A uc002utj.4 - 39 6652 c.6551C>T c.(6550-6552)tCc>tTc p.S2184F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2184 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.F2183F(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATGACACGGGAGAAATCACG 0.388000 54 17 0 0 0.004990 0 0 CCNB3 85417 broad.mit.edu 37 X 50053047 50053047 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:50053047G>A uc004dox.4 + 5 2176 c.1878G>A c.(1876-1878)atG>atA p.M626I CCNB3_uc004doy.3_Missense_Mutation_p.M626I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 626 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CCTTTAAGATGAAATCTACAA 0.448000 0 7 0 0 0.001984 0 0 GGT7 2686 broad.mit.edu 37 20 33440319 33440320 + Missense_Mutation DNP GG AA AA TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:33440319_33440320GG>AA uc002xay.3 - 10 1384_1385 c.1341_1342CC>TT c.(1339-1344)ctccgg>ctTTgg p.R448W GGT7_uc010gex.3_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.R465W NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 448 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 ATATGGCCCCGGAGGTAGGCGG 0.579000 47 30 0 0 0.004672 0 0 KIAA1467 57613 broad.mit.edu 37 12 13220139 13220139 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:13220139C>T uc001rbi.3 + 6 1074 c.1051C>T c.(1051-1053)Cga>Tga p.R351* KIAA1467_uc021qvn.1_Intron NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 351 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GGCCCAAAATCGAGACAGCTC 0.458000 49 42 0 0 0.008740 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952981 119952981 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:119952981G>A uc010inb.3 + 3 3247 c.3051G>A c.(3049-3051)acG>acA p.T1017T SYNPO2_uc010ina.3_Silent_p.T1017T|SYNPO2_uc003icm.4_Silent_p.T1017T|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.T945T|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 1017 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTCACCTACGAATGTGCAGG 0.567000 5 23 0 0 0.003330 0 0 CALML4 91860 broad.mit.edu 37 15 68489856 68489856 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:68489856C>T uc002arb.3 - 3 1149 c.415G>A c.(415-417)Gag>Aag p.E139K CALML4_uc002arc.3_Missense_Mutation_p.E92K|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Intron NM_033429 NP_219501 Q96GE6 CALL4_HUMAN Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA. 139 EF-hand 3. calcium ion binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 CCTTTCTTCTCCTTGTCCACC 0.478000 67 49 0 0 0.014410 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28337649 28337649 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:28337649G>A uc002ymg.3 - 0 1791 c.1062C>T c.(1060-1062)gaC>gaT p.D354D NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 354 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCTCCTCATGGTCATCTCCCA 0.562000 63 19 0 0 0.007413 0 0 SIAH3 283514 broad.mit.edu 37 13 46357938 46357938 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:46357938G>A uc001vap.3 - 1 472 c.390C>T c.(388-390)atC>atT p.I130I NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA. 130 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 CAACCCTATGGATCTGCCGCA 0.642000 35 39 0 0 0.008740 0 0 IKZF2 22807 broad.mit.edu 37 2 213872378 213872378 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:213872378C>A uc002vem.3 - 7 1456 c.1287G>T c.(1285-1287)aaG>aaT p.K429N IKZF2_uc010fuu.3_Missense_Mutation_p.K284N|IKZF2_uc002vej.3_Missense_Mutation_p.K376N|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.K355N|IKZF2_uc002vel.3_Missense_Mutation_p.K350N|IKZF2_uc010fuw.3_Missense_Mutation_p.K203N|IKZF2_uc010fux.3_Missense_Mutation_p.K203N|IKZF2_uc010fuy.3_Missense_Mutation_p.K357N|IKZF2_uc002ven.3_Missense_Mutation_p.K403N|IKZF2_uc002vei.3_Missense_Mutation_p.K207N NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 429 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) TTTGTTTCCTCTTGGGATTTA 0.502000 58 126 2.47456e-63 2.98954e-63 0.014410 1 0 FMO2 2327 broad.mit.edu 37 1 171165931 171165931 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:171165931C>T uc001ghk.1 + 3 582 c.465C>T c.(463-465)atC>atT p.I155I FMO2_uc010pmd.1_5'UTR NM_001460 NP_001451 Q99518 FMO2_HUMAN Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA. 155 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) TACCTCATATCCCACTGAAGT 0.488000 65 10 0 0 0.006214 0 0 TRA@ 6955 broad.mit.edu 37 14 22111199 22111199 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr14:22111199G>A uc001wbk.3 + 0 91 c.58G>A c.(58-60)Gga>Aga p.G20R Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114. GCAGATGTGGGGAGTTTTCCT 0.463000 T """ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6""" T-ALL 2 22 0 0 0.004656 0 0 CBFA2T3 863 broad.mit.edu 37 16 88958775 88958775 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:88958775G>A uc002fmm.2 - 3 787 c.498C>T c.(496-498)ccC>ccT p.P166P CBFA2T3_uc002fml.2_Silent_p.P80P|CBFA2T3_uc010cif.1_Silent_p.P105P|CBFA2T3_uc002fmn.2_Silent_p.P141P NM_005187 NP_005178 O75081 MTG16_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. 166 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CGCAGGCTGGGGGCAGGTGCT 0.642000 T RUNX1 AML 19 12 0 0 0.002450 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43663577 43663577 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:43663577C>T uc001zro.3 + 0 265 c.25C>T c.(25-27)Ctg>Ttg p.L9L ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_5'Flank|ZSCAN29_uc001zrk.1_5'Flank|ZSCAN29_uc010bdf.1_5'Flank|ZSCAN29_uc001zrl.1_5'Flank|ZSCAN29_uc001zrm.3_5'Flank|TUBGCP4_uc001zrn.3_Silent_p.L9L NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA. 9 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton p.A8D(2) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GCTCTTGGCTCTGAGCGGGTA 0.657000 OREG0023087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 25 0 0 0.006320 0 0 SCN10A 6336 broad.mit.edu 37 3 38768109 38768109 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:38768109G>A uc003ciq.3 - 15 3075 c.3075C>T c.(3073-3075)atC>atT p.I1025I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1025 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) GTCCTTTGGGGATCACTTCCT 0.542000 4 22 0 0 0.003954 0 0 DNAH5 1767 broad.mit.edu 37 5 13841216 13841216 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:13841216C>T uc003jfd.2 - 33 5550 c.5508G>A c.(5506-5508)atG>atA p.M1836I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1836 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGTCCATATCATCTGAATTC 0.323000 Kartagener syndrome 27 24 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237957208 237957208 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:237957208G>A uc001hyl.1 + 94 13944 c.13824G>A c.(13822-13824)cgG>cgA p.R4608R RYR2_uc010pyb.1_Silent_p.R41R NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4608 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGTGGCACGGAAATTGGAAT 0.353000 16 4 0 0 0.000602 0 0 DSC1 1823 broad.mit.edu 37 18 28737400 28737400 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:28737400G>A uc002kwn.3 - 2 547 c.285C>T c.(283-285)ttC>ttT p.F95F DSC1_uc002kwm.3_Silent_p.F95F NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 95 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CATCTGAAAGGAAAATGGAAA 0.423000 23 7 0 0 0.001984 0 0 ZFAT 57623 broad.mit.edu 37 8 135614509 135614509 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:135614509G>A uc003yup.3 - 5 1639 c.1453C>T c.(1453-1455)Cag>Tag p.Q485* ZFAT_uc003yun.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010meh.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010mej.3_Nonsense_Mutation_p.Q423*|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yur.3_Nonsense_Mutation_p.Q473* NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AAGGCCTCCTGGGCAGCCCCG 0.602000 17 16 0 0 0.004007 0 0 JPH2 57158 broad.mit.edu 37 20 42747261 42747261 + Missense_Mutation SNP G C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr20:42747261G>C uc002xli.1 - 2 2045 c.1172C>G c.(1171-1173)aCa>aGa p.T391R NM_020433 NP_065166 Q9BR39 JPH2_HUMAN Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA. 391 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCGTGGCTTGTCCTATGGAG 0.582000 56 64 0 0 0.014410 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897652 130897652 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:130897652G>A uc010yzw.1 - 4 1944 c.1200C>T c.(1198-1200)tcC>tcT p.S400S CCDC74B_uc002tqm.1_Silent_p.S298S|CCDC74B_uc002tqn.1_Silent_p.S232S Q96LY2 CC74B_HUMAN Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA. 298 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CTTCCAGGAGGGACTTGAGGT 0.701000 13 3 0 0 0.009096 0 0 ZG16B 124220 broad.mit.edu 37 16 2881920 2881920 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:2881920C>T uc002cru.3 + 3 463 c.387C>T c.(385-387)ttC>ttT p.F129F NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA. 129 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 TCCAAGCTTTCCTCCGGGGTA 0.547000 39 37 0 0 0.007835 0 0 PTPN9 5780 broad.mit.edu 37 15 75761201 75761201 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr15:75761201T>C uc002bal.3 - 12 2199 c.1691A>G c.(1690-1692)tAc>tGc p.Y564C NM_002833 NP_002824 P43378 PTN9_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA. 564 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GCAAAAATAGTACTGCTCAGG 0.562000 35 42 0 0 0.008740 0 0 SEMA5B 54437 broad.mit.edu 37 3 122667438 122667438 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:122667438G>A uc003efz.1 - 2 547 c.243C>T c.(241-243)ctC>ctT p.L81L SEMA5B_uc011bju.1_Silent_p.L23L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L81L|SEMA5B_uc010hro.1_Silent_p.L23L|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 81 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGGAGCTGGAGAGGTGGGACA 0.627000 23 13 0 0 0.001855 0 0 ZAN 7455 broad.mit.edu 37 7 100352897 100352897 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:100352897C>T uc003uwj.3 + 14 3338 c.3173C>T c.(3172-3174)tCg>tTg p.S1058L ZAN_uc003uwk.3_Missense_Mutation_p.S1058L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1058 TIL 1. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGTCCTGCTTCGTGCAAGAGC 0.567000 107 182 0 0 0.014410 0 0 FPR2 2358 broad.mit.edu 37 19 52272677 52272677 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:52272677C>T uc002pxr.3 + 1 811 c.766C>T c.(766-768)Ccc>Tcc p.P256S FPR2_uc002pxs.4_Missense_Mutation_p.P256S|FPR2_uc010epf.3_Missense_Mutation_p.P256S|FPR2_uc021uyp.1_Missense_Mutation_p.P256S NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 256 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.P256S(2) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTGTTGGTTTCCCTTTCAACT 0.488000 24 22 0 0 0.012319 0 0 ZIC1 7545 broad.mit.edu 37 3 147131271 147131271 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:147131271C>T uc003ewe.3 + 2 1996 c.1277C>T c.(1276-1278)tCc>tTc p.S426F NM_003412 NP_003403 Q15915 ZIC1_HUMAN Homo sapiens Zic family member 1 (ZIC1), mRNA. 426 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 TCGCCCTCCTCCTCCGCAGTC 0.547000 48 21 0 0 0.002780 0 0 CDH17 1015 broad.mit.edu 37 8 95178082 95178082 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:95178082G>A uc003ygh.2 - 9 1314 c.1189C>T c.(1189-1191)Caa>Taa p.Q397* CDH17_uc011lgo.1_Nonsense_Mutation_p.Q183*|CDH17_uc011lgp.1_Nonsense_Mutation_p.Q397* NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 397 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCATAGGTTTGGATTAGGAAG 0.413000 31 27 0 0 0.004656 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008928 56008928 + Missense_Mutation SNP T C C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:56008928T>C uc002lgy.3 + 14 1559 c.1276T>C c.(1276-1278)Tcc>Ccc p.S426P NEDD4L_uc002lgz.3_Missense_Mutation_p.S362P|NEDD4L_uc002lgx.3_Missense_Mutation_p.S406P|NEDD4L_uc010xee.1_Missense_Mutation_p.S305P|NEDD4L_uc002lhc.2_Missense_Mutation_p.S418P|NEDD4L_uc002lhd.2_Missense_Mutation_p.S305P|NEDD4L_uc002lhb.2_Missense_Mutation_p.S285P|NEDD4L_uc002lhe.2_Missense_Mutation_p.S398P|NEDD4L_uc002lhf.3_Missense_Mutation_p.S285P|NEDD4L_uc002lhg.3_Missense_Mutation_p.S305P|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 426 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGATGGTGCGTCCGGATCAGC 0.517000 4 9 0 0 0.004482 0 0 OR2T6 254879 broad.mit.edu 37 1 248550993 248550993 + Silent SNP C T T rs61736237 byFrequency TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:248550993C>T uc001iei.1 + 0 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F27L(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATTCTTTTTCGGTGTCATTT 0.438000 23 26 0 0 0.006320 0 0 KCNU1 157855 broad.mit.edu 37 8 36780057 36780057 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:36780057G>A uc010lvw.3 + 23 2733 c.2646G>A c.(2644-2646)ggG>ggA p.G882G KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 882 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GACTGGAAGGGTCCCTCCAAG 0.453000 39 38 0 0 0.005524 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812836 31812836 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:31812836C>T uc002yod.3 + 0 191 c.191C>T c.(190-192)tCc>tTc p.S64F NM_181623 NP_853654 Q3LI76 KR151_HUMAN Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA. 64 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TGCCAGACATCCTGCACTTTG 0.512000 58 28 0 0 0.004656 0 0 AGTR2 186 broad.mit.edu 37 X 115304558 115304558 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:115304558G>A uc022cdd.1 + 0 1025 c.1025G>A c.(1024-1026)gGg>gAg p.G342E AGTR2_uc004eqh.4_Missense_Mutation_p.G342E NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 342 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGGCTCCAAGGGAAAAGAGAG 0.438000 4 56 0 0 0.014410 0 0 PRSS16 10279 broad.mit.edu 37 6 27216986 27216986 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:27216986C>T uc003nja.3 + 3 460 c.445C>T c.(445-447)Cgc>Tgc p.R149C PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Missense_Mutation_p.R39C|PRSS16_uc010jqr.1_Missense_Mutation_p.R39C|PRSS16_uc003njd.3_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 149 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GGCCCAGCTCCGCTTCTTGTC 0.562000 24 46 0 0 0.014410 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572253 140572253 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:140572253C>T uc003lix.3 + 0 302 c.128C>T c.(127-129)tCc>tTc p.S43F NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 43 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S43Y(2)|p.S43S(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAAAGGATCCTTTGTGGTC 0.493000 3 29 0 0 0.004289 0 0 DSCAM 1826 broad.mit.edu 37 21 41505877 41505877 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr21:41505877C>T uc002yyq.1 - 18 3918 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1156 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTGTACTTTTCCAGCCCGTCC 0.537000 17 25 0 0 0.003954 0 0 DEF6 50619 broad.mit.edu 37 6 35289056 35289056 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:35289056G>A uc003okk.3 + 10 1804 c.1765G>A c.(1765-1767)Gga>Aga p.G589R DEF6_uc010jvs.3_Missense_Mutation_p.G564R|DEF6_uc010jvt.3_Missense_Mutation_p.G334R NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA. 589 cytoplasm|nucleus|plasma membrane p.G589E(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GACCCGCTGGGGATCCCAGGG 0.642000 40 68 0 0 0.014410 0 0 ZNF746 155061 broad.mit.edu 37 7 149172261 149172261 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:149172261G>A uc010lpi.2 - 6 1423 c.1152C>T c.(1150-1152)ttC>ttT p.F384F ZNF746_uc003wfw.2_Silent_p.F383F NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 383 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GTTTACACCGGAAATTCCAGC 0.672000 34 13 0 0 0.013537 0 0 TRIM15 89870 broad.mit.edu 37 6 30135034 30135034 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:30135034C>T uc010jrx.3 + 1 942 c.463C>T c.(463-465)Ctt>Ttt p.L155F NM_033229 NP_150232 Q9C019 TRI15_HUMAN Homo sapiens tripartite motif containing 15 (TRIM15), mRNA. 155 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 AGACCAGAAGCTTCAAGTGCT 0.502000 23 43 0 0 0.011902 0 0 FBXO24 26261 broad.mit.edu 37 7 100198319 100198319 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:100198319G>A uc011kjz.1 + 9 1722 c.1654G>A c.(1654-1656)Ggg>Agg p.G552R FBXO24_uc003uvm.1_Missense_Mutation_p.G514R|FBXO24_uc003uvn.1_Missense_Mutation_p.G152R|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.G502R|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 514 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGACCCCGGGGGGATGGCCCA 0.662000 20 60 0 0 0.014410 0 0 CSMD2 114784 broad.mit.edu 37 1 34312591 34312591 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:34312591G>A uc001bxm.1 - 5 1104 c.927C>T c.(925-927)acC>acT p.T309T CSMD2_uc001bxn.1_Silent_p.T269T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 269 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCTGGCTCCGGTGAACCTGT 0.582000 35 7 0 0 0.001984 0 0 CEACAM20 125931 broad.mit.edu 37 19 45021033 45021033 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:45021033G>A uc010ejn.1 - 5 1299 c.1283C>T c.(1282-1284)tCc>tTc p.S428F CEACAM20_uc010ejo.1_Missense_Mutation_p.S428F|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 428 Ig-like C2-type 4. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GACTGAAGTGGAGCGGGCCAG 0.597000 206 159 0 0 0.014410 0 0 ZNF629 23361 broad.mit.edu 37 16 30794450 30794450 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:30794450C>A uc002dzs.1 - 2 1407 c.1199G>T c.(1198-1200)cGg>cTg p.R400L NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN Homo sapiens zinc finger protein 629 (ZNF629), mRNA. 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CTTGTAGGGCCGCTCGCCCGT 0.667000 6 12 1.61879e-10 1.92191e-10 0.013537 1 0 PRSS36 146547 broad.mit.edu 37 16 31150732 31150732 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr16:31150732G>A uc002ebd.3 - 14 2354 c.2295C>T c.(2293-2295)acC>acT p.T765T PRSS36_uc010vff.2_Silent_p.T540T|PRSS36_uc010vfg.2_Silent_p.T760T|PRSS36_uc010vfh.2_Silent_p.T662T NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 765 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GCGGTGCTGAGGTCATCTGCA 0.637000 54 35 0 0 0.006999 0 0 C12orf51 283450 broad.mit.edu 37 12 112650418 112650418 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:112650418C>T uc021reb.1 - 48 7496 c.7100G>A c.(7099-7101)gGg>gAg p.G2367E C12orf51_uc001ttr.1_Missense_Mutation_p.G254E NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 AGGTGGAGTCCCCTCAGTTCT 0.507000 1 39 0 0 0.004289 0 0 GALR1 2587 broad.mit.edu 37 18 74980625 74980625 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr18:74980625G>A uc002lms.4 + 2 1314 c.817G>A c.(817-819)Gga>Aga p.G273R NM_001480 NP_001471 P47211 GALR1_HUMAN Homo sapiens galanin receptor 1 (GALR1), mRNA. 273 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GGCTGAGTTTGGAGTTTTCCC 0.512000 48 67 0 0 0.014410 0 0 ATP13A4 84239 broad.mit.edu 37 3 193125150 193125150 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:193125150G>A uc003ftd.3 - 28 3438 c.3330C>T c.(3328-3330)tcC>tcT p.S1110S ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 1110 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TGATGACAATGGAGGCCCTCC 0.527000 47 17 0 0 0.010504 0 0 RASGRP3 25780 broad.mit.edu 37 2 33774771 33774771 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:33774771G>A uc002rox.3 + 14 2122 c.1495G>A c.(1495-1497)Gag>Aag p.E499K RASGRP3_uc010ync.2_Missense_Mutation_p.E499K|RASGRP3_uc002roy.3_Missense_Mutation_p.E498K NM_170672 NP_733772 Q8IV61 GRP3_HUMAN Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA. 499 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TAATTTTCAGGAGATGACCTA 0.403000 22 6 0 0 0.001168 0 0 NNMT 4837 broad.mit.edu 37 11 114168749 114168749 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:114168749C>T uc001por.1 + 3 495 c.231C>T c.(229-231)tcC>tcT p.S77S NNMT_uc001pos.1_Silent_p.S77S NM_006169 NP_006160 P40261 NNMT_HUMAN Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA. 77 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) CTTGTGAATCCTTTAAGGAGA 0.532000 21 37 0 0 0.006999 0 0 SLC4A5 57835 broad.mit.edu 37 2 74491355 74491356 + Missense_Mutation DNP GG AA AA TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:74491355_74491356GG>AA uc002sko.1 - 4 635_636 c.633_634CC>TT c.(631-636)gtcctc>gtTTtc p.L212F SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.L212F|SLC4A5_uc010ffc.1_Missense_Mutation_p.L212F|SLC4A5_uc002skp.1_Missense_Mutation_p.L148F|SLC4A5_uc002sks.1_Missense_Mutation_p.L212F NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 212 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTCCTCAGGAGGACGTAACTGA 0.550000 30 6 0 0 0.004672 0 0 PSG2 5670 broad.mit.edu 37 19 43576076 43576076 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:43576076G>A uc002ovr.3 - 3 912 c.740C>T c.(739-741)tCa>tTa p.S247L PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 247 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ATTGGTGTATGAAGGGTGAAT 0.483000 100 48 0 0 0.014410 0 0 LRRC7 57554 broad.mit.edu 37 1 70484495 70484495 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:70484495G>A uc001dep.3 + 12 1330 c.1300G>A c.(1300-1302)Gat>Aat p.D434N LRRC7_uc009wbg.3_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 434 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCCTCGTGGTGATGAAGGTAA 0.388000 5 31 0 0 0.010818 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166831754 166831754 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:166831754G>A uc003qvd.1 - 20 2085 c.1972C>T c.(1972-1974)Ctt>Ttt p.L658F RPS6KA2_uc011ego.1_Missense_Mutation_p.L544F|RPS6KA2_uc010kkl.1_Missense_Mutation_p.L544F|RPS6KA2_uc003qvb.1_Missense_Mutation_p.L633F|RPS6KA2_uc003qvc.1_Missense_Mutation_p.L641F|RPS6KA2_uc010kkk.1_Missense_Mutation_p.L65F NM_021135 NP_066958 Q15349 KS6A2_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA. 633 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CCCCCAGAAAGGGCATACTTC 0.453000 3 41 0 0 0.009718 0 0 ALX4 60529 broad.mit.edu 37 11 44297060 44297060 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr11:44297060G>A uc001myb.3 - 1 719 c.615C>T c.(613-615)gcC>gcT p.A205A NM_021926 NP_068745 Q9H161 ALX4_HUMAN Homo sapiens ALX homeobox 4 (ALX4), mRNA. 205 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TCTCTGAGTCGGCCTTCTCCA 0.627000 91 25 0 0 0.006320 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776180 77776180 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:77776180G>A uc003yau.2 + 10 10617 c.10230G>A c.(10228-10230)atG>atA p.M3410I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3361 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGCCAGATGATGTTTACTG 0.423000 HNSCC(33;0.089) 7 10 0 0 0.006214 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058957 152058957 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:152058957C>T uc001ezo.1 - 2 1266 c.1201G>A c.(1201-1203)Gga>Aga p.G401R NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 401 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCTGCTGTTCCATGGGCCTCA 0.468000 27 64 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100699543 100699543 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:100699543G>A uc003uxp.1 + 11 13485 c.13432G>A c.(13432-13434)Gaa>Aaa p.E4478K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4478 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CATAGACCCTGAAACAAAGGT 0.488000 41 23 0 0 0.002780 0 0 SDK2 54549 broad.mit.edu 37 17 71426687 71426687 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:71426687C>T uc010dfm.3 - 11 1546 c.1546G>A c.(1546-1548)Gtg>Atg p.V516M SDK2_uc010dfn.2_Missense_Mutation_p.V195M NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 516 Ig-like C2-type 6. cell adhesion integral to membrane p.V516E(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACTCCGCACACCATGGAGGCC 0.597000 0 8 0 0 0.003080 0 0 COX7B2 170712 broad.mit.edu 37 4 46737038 46737038 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:46737038C>T uc003gxf.3 - 2 352 c.172G>A c.(172-174)Gcc>Acc p.A58T COX7B2_uc010ige.3_Non-coding_Transcript|COX7B2_uc021xny.1_Missense_Mutation_p.A58T NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN Homo sapiens cytochrome c oxidase subunit VIIb2 (COX7B2), mRNA. 58 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 ATCTGAGTGGCTGTAAACACC 0.423000 12 24 0 0 0.003330 0 0 SI 6476 broad.mit.edu 37 3 164739066 164739066 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:164739066C>T uc003fei.3 - 26 3268 c.3205G>A c.(3205-3207)Gaa>Aaa p.E1069K NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1069 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AAAGGATTTTCCTTGATTTCC 0.353000 HNSCC(35;0.089) 65 67 0 0 0.014410 0 0 CDH6 1004 broad.mit.edu 37 5 31297437 31297437 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:31297437C>T uc003jhe.2 + 3 925 c.565C>T c.(565-567)Cca>Tca p.P189S CDH6_uc003jhd.2_Missense_Mutation_p.P189S NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 189 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D188N(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGCAGATGATCCAACATATGG 0.378000 46 26 0 0 0.010818 0 0 TRIM71 131405 broad.mit.edu 37 3 32932942 32932942 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:32932942C>T uc003cff.3 + 3 2309 c.2246C>T c.(2245-2247)tCc>tTc p.S749F NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 749 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACTTTGACTCCCCACGGGGT 0.582000 0 20 0 0 0.010504 0 0 APOB 338 broad.mit.edu 37 2 21235348 21235348 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr2:21235348C>T uc002red.3 - 25 4520 c.4392G>A c.(4390-4392)caG>caA p.Q1464Q NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1464 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) AAGCAGACATCTGTGGTCCCC 0.383000 168 357 0 0 0.014410 0 0 LRFN2 57497 broad.mit.edu 37 6 40360351 40360351 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:40360351C>T uc003oph.1 - 2 2166 c.1701G>A c.(1699-1701)aaG>aaA p.K567K NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 567 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCGCTGCCATCTTGCTGGGGG 0.672000 25 5 0 0 0.001984 0 0 IGSF1 3547 broad.mit.edu 37 X 130409561 130409561 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chrX:130409561G>A uc004ewe.4 - 15 3373 c.3090C>T c.(3088-3090)atC>atT p.I1030I IGSF1_uc004ewd.3_Silent_p.I1025I|IGSF1_uc022cdv.1_Silent_p.I1016I|IGSF1_uc004ewf.2_Silent_p.I1005I NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 1025 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ATATATTGGTGATGGGGAATG 0.522000 3 29 0 0 0.007291 0 0 BTN1A1 696 broad.mit.edu 37 6 26509210 26509210 + Nonsense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:26509210G>A uc003nif.4 + 6 1446 c.1389G>A c.(1387-1389)tgG>tgA p.W463* NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 463 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TTTGCCTATGGTCTAGCGGTA 0.493000 49 24 0 0 0.005443 0 0 C3orf30 152405 broad.mit.edu 37 3 118867140 118867140 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:118867140G>A uc003ecb.1 + 1 1552 c.1512G>A c.(1510-1512)atG>atA p.M504I IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.M504I NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 504 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) TCCAATACATGGAAAAACACC 0.333000 28 21 0 0 0.012319 0 0 ERP44 23071 broad.mit.edu 37 9 102784421 102784421 + Missense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:102784421C>A uc004bam.3 - 4 582 c.374G>T c.(373-375)gGt>gTt p.G125V ERP44_uc010msy.3_Non-coding_Transcript NM_015051 NP_055866 Q9BS26 ERP44_HUMAN Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA. 125 Thioredoxin. cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein ER-Golgi intermediate compartment|endoplasmic reticulum lumen|endoplasmic reticulum membrane protein binding|protein disulfide isomerase activity p.R124S(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2) 19 TGATCGCTGACCCCTGTATTC 0.413000 6 45 1.48734e-19 1.78241e-19 0.013114 1 0 KCND2 3751 broad.mit.edu 37 7 120387884 120387884 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:120387884G>A uc003vjj.1 + 5 2830 c.1865G>A c.(1864-1866)gGa>gAa p.G622E NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 622 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TACTCAGGAGGAAATATTGTC 0.423000 21 26 0 0 0.008361 0 0 EVPL 2125 broad.mit.edu 37 17 74004282 74004282 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr17:74004282C>T uc010wss.1 - 21 5298 c.5070G>A c.(5068-5070)cgG>cgA p.R1690R EVPL_uc002jqi.2_Silent_p.R1668R|EVPL_uc010wst.1_Silent_p.R1138R NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1668 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGAGCTCCTCCCGGCTCACCT 0.647000 8 27 0 0 0.004656 0 0 FAM135B 51059 broad.mit.edu 37 8 139255187 139255187 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:139255187C>T uc003yuy.3 - 6 838 c.667G>A c.(667-669)Gag>Aag p.E223K FAM135B_uc003yux.3_Missense_Mutation_p.E124K|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 223 p.E223K(3)|p.S222*(1) 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) GGCCTTACCTCTGAGGAAGTC 0.463000 HNSCC(54;0.14) 28 21 0 0 0.010504 0 0 OR13C8 138802 broad.mit.edu 37 9 107332301 107332301 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:107332301G>A uc011lvo.2 + 0 853 c.853G>A c.(853-855)Gga>Aga p.G285R NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CCTTTTCTATGGAGTGATGAC 0.418000 4 35 0 0 0.006999 0 0 TPTE2 93492 broad.mit.edu 37 13 20024216 20024216 + Splice_Site SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:20024216C>T uc001umd.3 - 14 1184 c.973_splice c.e14+1 p.G325_splice TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.G214_splice|TPTE2_uc001ume.3_Splice_Site_p.G248_splice|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Splice_Site NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 325 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATGTTATTACCTTTGCCTCCT 0.323000 33 6 0 0 0.002450 0 0 ASTN1 460 broad.mit.edu 37 1 176993846 176993846 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:176993846C>T uc001glc.3 - 5 1355 c.1143G>A c.(1141-1143)gtG>gtA p.V381V ASTN1_uc001glb.1_Silent_p.V381V|ASTN1_uc001gld.1_Silent_p.V381V|ASTN1_uc009wwx.1_Silent_p.V381V|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 381 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGTCTTATTCACAGGACTTC 0.498000 8 11 0 0 0.013537 0 0 X97876 0 broad.mit.edu 37 9 66499716 66499716 + Missense_Mutation SNP A G G rs141617852 by1000genomes TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr9:66499716A>G uc004aee.1 + 0 526 c.526A>G c.(526-528)Aat>Gat p.N176D X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). CCTGGAGCCCAATCTGCTGGA 0.607000 53 7 0 0 0.006214 0 0 GPR116 221395 broad.mit.edu 37 6 46874491 46874491 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 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 15 37 0 0 0.003755 0 0 HNF1A 6927 broad.mit.edu 37 12 121416653 121416653 + Nonsense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:121416653C>T uc001tzg.3 + 0 105 c.82C>T c.(82-84)Cag>Tag p.Q28* HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Nonsense_Mutation_p.Q28*|HNF1A_uc001tzf.3_Nonsense_Mutation_p.Q28*|HNF1A_uc010szn.2_Nonsense_Mutation_p.Q28*|HNF1A_uc021rfa.1_Nonsense_Mutation_p.Q28*|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 28 Dimerization. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.Q28*(4)|p.I27_L30delIQAL(2)|p.A25_Q28del(2)|p.?(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGCACTGATCCAGGCACTGGG 0.682000 Hepatic Adenoma, Familial Clustering of 25 185 0 0 0.014410 0 0 KRT18 3875 broad.mit.edu 37 12 53345288 53345288 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:53345288G>A uc001sbe.3 + 4 750 c.681G>A c.(679-681)caG>caA p.Q227Q KRT18_uc009zmn.2_Silent_p.Q227Q|KRT18_uc001sbg.3_Silent_p.Q227Q|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA. 227 Linker 12.|Necessary for interaction with PNN.|Rod. Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 TACAAGCCCAGATTGCCAGCT 0.547000 2 47 0 0 0.014410 0 0 ACR 49 broad.mit.edu 37 22 51182578 51182579 + Missense_Mutation DNP GT AA AA rs147392791 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr22:51182578_51182579GT>AA uc003bnh.4 + 3 667_668 c.655_656GT>AA c.(655-657)gtt>AAt p.V219N NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 219 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) CAATGGGCGCGTTCAGCCAACC 0.569000 180 58 0 0 0.004672 0 0 DNAH8 1769 broad.mit.edu 37 6 38810600 38810600 + Missense_Mutation SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr6:38810600C>T uc021yzh.1 + 34 4875 c.4766C>T c.(4765-4767)cCa>cTa p.P1589L DNAH8_uc003ooe.2_Missense_Mutation_p.P1372L NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTGGAACCCCATTTGATGTG 0.388000 48 18 0 0 0.007413 0 0 AP1M2 10053 broad.mit.edu 37 19 10694662 10694662 + Nonsense_Mutation SNP C A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr19:10694662C>A uc002mpd.3 - 1 211 c.127G>T c.(127-129)Gaa>Taa p.E43* AP1M2_uc002mpc.3_Nonsense_Mutation_p.E43* NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA. 43 cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) AGGGCGCCTTCCTCCTCCCGC 0.587000 7 6 2.0095e-06 2.36692e-06 0.001984 1 0 C5orf42 65250 broad.mit.edu 37 5 37167295 37167295 + Silent SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr5:37167295G>A uc011cpa.1 - 34 7485 c.7254C>T c.(7252-7254)atC>atT p.I2418I C5orf42_uc011coy.1_Silent_p.I918I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.I1493I NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2418 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTTCAAGTGGGATAAGTTGTG 0.323000 21 15 0 0 0.003163 0 0 AGRN 375790 broad.mit.edu 37 1 957749 957749 + Silent SNP C T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:957749C>T uc001ack.2 + 1 420 c.370C>T c.(370-372)Ctg>Ttg p.L124L NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 124 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) ACCCCCATACCTGTGGCCAGC 0.587000 29 83 0 0 0.014410 0 0 SPRY1 10252 broad.mit.edu 37 4 124322750 124322750 + Missense_Mutation SNP G A A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr4:124322750G>A uc003ifa.3 + 1 191 c.4G>A c.(4-6)Gat>Aat p.D2N SPRY1_uc003ifb.3_Missense_Mutation_p.D2N|SPRY1_uc021xro.1_Missense_Mutation_p.D2N NM_199327 NP_955359 O43609 SPY1_HUMAN Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA. 2 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 ACTACACATGGATCCCCAAAA 0.423000 16 72 0 0 0.014410 0 0 SDC3 9672 broad.mit.edu 37 1 31347287 31347287 + Frame_Shift_Del DEL G - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:31347287delG uc001bse.2 - 3 1066 c.1019delC c.(1018-1020)gcgfs p.A340fs SDC3_uc001bsd.2_Frame_Shift_Del_p.A282fs NM_014654 NP_055469 O75056 SDC3_HUMAN Homo sapiens syndecan 3 (SDC3), mRNA. 340 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTTGGCCGCAGCCCCTCC 0.647 --- 66 --- --- 15 --- KHDRBS1 10657 broad.mit.edu 37 1 32479677 32479677 + Frame_Shift_Del DEL C - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:32479677delC uc001bub.3 + 0 187 c.81delC c.(79-81)cacfs p.H27fs KHDRBS1_uc001bua.1_Frame_Shift_Del_p.H27fs|KHDRBS1_uc001buc.1_Non-coding_Transcript NM_006559 NP_006550 Q07666 KHDR1_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA. 27 G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCGGTGCCCACCCCTCGGTGC 0.771 --- 4 --- --- 2 --- ELAVL4 1996 broad.mit.edu 37 1 50666700 50666700 + Frame_Shift_Del DEL C - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:50666700delC uc001csb.2 + 6 1261 c.993delC c.(991-993)gacfs p.D331fs ELAVL4_uc001cry.3_Frame_Shift_Del_p.D320fs|ELAVL4_uc001crz.3_Frame_Shift_Del_p.D317fs|ELAVL4_uc001csa.3_Frame_Shift_Del_p.D334fs|ELAVL4_uc001csc.3_Frame_Shift_Del_p.D317fs|ELAVL4_uc010omz.2_Frame_Shift_Del_p.D322fs NM_021952 NP_068771 P26378 ELAV4_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA. 331 RRM 3. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding p.R330C(1) NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TGATTCGTGACTTCAACACCA 0.547 --- 26 --- --- 51 --- ASPM 259266 broad.mit.edu 37 1 197074279 197074279 + Frame_Shift_Del DEL G - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr1:197074279delG uc001gtu.3 - 17 4359 c.4102delC c.(4102-4104)ctgfs p.L1368fs ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 1368 IQ 1. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCAATTTCAGAAATCTTTGT 0.308 --- 10 --- --- 29 --- CTNNB1 1499 broad.mit.edu 37 3 41266134 41266136 + In_Frame_Del DEL CTT - - rs121913407 TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr3:41266134_41266136delCTT uc010hia.1 + 3 287_289 c.131_133delCTT c.(130-135)ccttct>cct p.S45del CTNNB1_uc003ckq.2_In_Frame_Del_p.S45del|CTNNB1_uc003ckp.2_In_Frame_Del_p.S45del|CTNNB1_uc003ckr.2_In_Frame_Del_p.S45del|CTNNB1_uc011azf.1_In_Frame_Del_p.S38del|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45F(446)|p.S45P(362)|p.S45del(134)|p.A5_A80del(119)|p.S45Y(26)|p.S45C(23)|p.S45A(23)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.P44L(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.P44del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45E(2)|p.A21_A80del(2)|p.S45T(2)|p.I35_K170del(2)|p.S45_S47>C(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.P44_S45insAP(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.V22_Y64del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45fs*2(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.W25_A80del(1)|p.5_142>(1)|p.A20_Q72del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACCACAGCTCCTTCTCTGAGTGG 0.502 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of --- 20 --- --- 18 --- TSGA13 114960 broad.mit.edu 37 7 130357651 130357652 + Frame_Shift_Ins INS - T T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr7:130357651_130357652insT uc003vqi.3 - 5 909_910 c.452_453insA c.(451-453)aagfs p.K151fs TSGA13_uc003vqj.3_Frame_Shift_Ins_p.K151fs NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 151 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TAGATCTTAACTTTTTTTTCTG 0.450 --- 1364 --- --- 7 --- ADAM32 203102 broad.mit.edu 37 8 39103631 39103641 + Frame_Shift_Del DEL AAGGATAATTA - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr8:39103631_39103641delAAGGATAATTA uc003xmt.4 + 16 2093_2103 c.1848_1858delAAGGATAATTA c.(1846-1860)tcaaggataattaagfs p.S616fs ADAM32_uc011lch.2_Frame_Shift_Del_p.S517fs|ADAM32_uc003xmu.4_Frame_Shift_Del_p.S510fs|ADAM32_uc003xmv.3_Frame_Shift_Del_p.S40fs NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 616 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GTGTAGAATCAAGGATAATTAAGGCTTCAGC 0.360 --- 73 --- --- 17 --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:29450110delA uc001rit.3 + 3 790 c.522delA c.(520-522)ccafs p.P174fs FAR2_uc001ris.4_Frame_Shift_Del_p.P174fs|FAR2_uc009zjm.3_Frame_Shift_Del_p.P77fs|AX746523_uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA. 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 --- 172 --- --- 7 --- PLXNC1 10154 broad.mit.edu 37 12 94694762 94694763 + Frame_Shift_Ins INS - AC AC TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr12:94694762_94694763insAC uc001tdc.3 + 27 4564_4565 c.4315_4316insAC c.(4315-4317)gacfs p.D1439fs PLXNC1_uc010sut.2_Frame_Shift_Ins_p.D486fs|PLXNC1_uc009zsv.3_Frame_Shift_Ins_p.D178fs NM_005761 NP_005752 O60486 PLXC1_HUMAN Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. 1439 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ACCACATATAGACGGCTGTTTG 0.441 --- 14 --- --- 80 --- LIG4 3981 broad.mit.edu 37 13 108862892 108862893 + Frame_Shift_Del DEL AA - - TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e88cd3a-dba8-4e17-825e-1a851793a5ae fe83a8cb-b301-41e0-9833-ebd6602969a2 g.chr13:108862892_108862893delAA uc001vqn.3 - 1 997_998 c.724_725delTT c.(724-726)ttafs p.L242fs LIG4_uc001vqo.3_Frame_Shift_Del_p.L242fs|LIG4_uc010agf.3_Frame_Shift_Del_p.L242fs|LIG4_uc001vqp.3_Frame_Shift_Del_p.L242fs|LIG4_uc010agg.1_Frame_Shift_Del_p.L175fs|LIG4_uc021rmk.1_Frame_Shift_Del_p.L242fs NM_002312 NP_996820 P49917 DNLI4_HUMAN Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA. 242 DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TGCAGAAAATAAAGTGATAGAA 0.371 Non-homologous end-joining --- 30 --- --- 10 ---