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 DNAH3 55567 broad.mit.edu 37 16 20974933 20974933 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:20974933G>A uc010vbe.2 - 52 10273 c.10273C>T c.(10273-10275)Cgt>Tgt p.R3425C DNAH3_uc010vbd.2_Missense_Mutation_p.R860C NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3425 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) GCAGATGCACGGACAATCTCT 0.552000 46 16 0 0 0.000422831 0 0 LRP1B 53353 broad.mit.edu 37 2 141079576 141079576 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:141079576C>T uc002tvj.1 - 81 13568 c.12596G>A c.(12595-12597)gGa>gAa p.G4199E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4199 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAAATATTTTCCTTCTGGACA 0.358000 TSP Lung(27;0.18) 66 28 0 0 0.001512 0 0 FOLH1B 219595 broad.mit.edu 37 11 89421804 89421804 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:89421804G>A uc001pda.3 + 9 1187 c.661G>A c.(661-663)Gga>Aga p.G221R NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 221 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CCAACGACTTGGAATTGCTTC 0.299000 135 45 0 0 0.000781405 0 0 CAD 790 broad.mit.edu 37 2 27460710 27460710 + Missense_Mutation SNP T A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:27460710T>A uc002rji.3 + 28 4850 c.4688T>A c.(4687-4689)tTc>tAc p.F1563Y CAD_uc010eyw.3_Missense_Mutation_p.F1500Y NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 1563 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AATGAGACCTTCTCTGAGCTG 0.612000 26 15 0 0 0.000422831 0 0 RGS22 26166 broad.mit.edu 37 8 101020705 101020705 + Silent SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:101020705T>C uc003yjb.1 - 14 2454 c.2259A>G c.(2257-2259)ccA>ccG p.P753P RGS22_uc003yja.1_Silent_p.P572P|RGS22_uc003yjc.1_Silent_p.P741P|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.P142P NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 753 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTCAAATGGTGGCTGTATTT 0.383000 54 27 0 0 0.000878237 0 0 CEP70 80321 broad.mit.edu 37 3 138291762 138291762 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:138291762G>A uc003esl.3 - 2 206 c.8C>T c.(7-9)cCg>cTg p.P3L CEP70_uc011bmk.2_Intron|CEP70_uc011bml.2_Intron|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.P3L|CEP70_uc003esn.3_Missense_Mutation_p.P3L NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 3 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 AGGGGCTACCGGAAACATAGT 0.333000 320 97 0 0 0.000781405 0 0 ITGB1BP3 27231 broad.mit.edu 37 19 3942207 3942207 + Missense_Mutation SNP G A A rs144739333 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:3942207G>A uc010xia.2 + 6 858 c.644G>A c.(643-645)gGa>gAa p.G215E ITGB1BP3_uc002lyz.4_Missense_Mutation_p.G210E NM_170678 NP_733778 Q9NPI5 NRK2_HUMAN Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA. 210 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2) 10 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) AGGACACAGGGACCCGGACGC 0.637000 32 8 0 0 0.000274275 0 0 ELOF1 84337 broad.mit.edu 37 19 11664867 11664867 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:11664867G>A uc002msd.1 - 3 367 c.209C>T c.(208-210)tCt>tTt p.S70F ELOF1_uc002mse.1_Missense_Mutation_p.S49F NM_032377 NP_115753 P60002 ELOF1_HUMAN Homo sapiens elongation factor 1 homolog (S. cerevisiae) (ELOF1), mRNA. 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding endometrium(3)|lung(2) 5 CACGGTACAAGAGATGACTCC 0.587000 96 43 0 0 0.000781405 0 0 HCAR3 8843 broad.mit.edu 37 12 123200933 123200933 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:123200933G>A uc001ucy.4 - 0 507 c.352C>T c.(352-354)Ctc>Ttc p.L118F HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 118 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) ACCACCGTGAGGAATATGATG 0.557000 59 22 0 0 0.00278032 0 0 MGAT5 4249 broad.mit.edu 37 2 135093810 135093810 + Missense_Mutation SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:135093810T>C uc002ttw.4 + 4 741 c.596T>C c.(595-597)tTa>tCa p.L199S NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 199 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TGTCCTCATTTACCTTGGAGA 0.353000 46 19 0 0 0.00229938 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40175799 40175799 + Missense_Mutation SNP G C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:40175799G>C uc002hyq.3 + 3 529 c.464G>C c.(463-465)cGc>cCc p.R155P NKIRAS2_uc010wgd.2_3'UTR|NKIRAS2_uc002hyr.3_Missense_Mutation_p.R155P|NKIRAS2_uc002hys.3_Missense_Mutation_p.R155P|NKIRAS2_uc010wge.2_Missense_Mutation_p.R99P|NKIRAS2_uc002hyt.3_Missense_Mutation_p.R155P NM_001001349 NP_060065 Q9NYR9 KBRS2_HUMAN Homo sapiens NFKB inhibitor interacting Ras-like 2 (NKIRAS2), transcript variant 1, mRNA. 155 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) GCGGACCGGCGCTCCCTCCTG 0.617000 55 19 0 0 0.00074312 0 0 DKFZp686O16217 0 broad.mit.edu 37 14 106053596 106053596 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:106053596G>A uc001yrt.3 - 3 750 c.719C>T c.(718-720)aCg>aTg p.T240M abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment; GCACGTCAGCGTCACCAGCTC 0.667000 58 10 0 0 0.000978159 0 0 EPPK1 83481 broad.mit.edu 37 8 144940435 144940435 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:144940435G>A uc003zaa.1 - 0 7000 c.6987C>T c.(6985-6987)ctC>ctT p.L2329L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2329 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGGACGATGAGGTCCTTCT 0.697000 313 15 0 0 0.000566183 0 0 AQP6 363 broad.mit.edu 37 12 50369410 50369410 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:50369410G>A uc001rvr.1 + 3 1498 c.805G>A c.(805-807)Gaa>Aaa p.E269K AQP6_uc001rvp.1_Missense_Mutation_p.E95K|AQP6_uc001rvq.1_Non-coding_Transcript NM_001652 NP_001643 Q13520 AQP6_HUMAN Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA. 269 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CCTGAAGAAGGAATCCCAGCC 0.672000 25 13 0 0 0.00136819 0 0 INTS2 57508 broad.mit.edu 37 17 59999159 59999159 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:59999159G>A uc002izn.3 - 3 562 c.486C>T c.(484-486)ttC>ttT p.F162F INTS2_uc002izm.3_Silent_p.F154F NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 162 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CAGAAGACTTGAAAAAAAATT 0.299000 50 19 0 0 0.00229938 0 0 NPAS2 4862 broad.mit.edu 37 2 101604640 101604641 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:101604640_101604641CC>TT uc010yvt.1 + 16 1926_1927 c.1924_1925CC>TT c.(1924-1926)ccc>TTc p.P642F NPAS2_uc002tap.1_Missense_Mutation_p.P577F|NPAS2_uc010fit.1_Intron NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 577 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.P642P(1) cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGTGACTCAGCCCCAGCTCGGG 0.599000 76 26 0 0 6.4e-05 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68784915 68784915 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:68784915C>T uc003hdr.1 - 7 858 c.737G>A c.(736-738)gGa>gAa p.G246E LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G243E NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA. 246 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GATTTTTGTTCCAAAACTAAC 0.348000 109 32 0 0 0.0024448 0 0 DYSF 8291 broad.mit.edu 37 2 71778184 71778184 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:71778184G>A uc010fen.3 + 17 1731 c.1590G>A c.(1588-1590)ctG>ctA p.L530L DYSF_uc010fei.3_Silent_p.L529L|DYSF_uc010feh.3_Silent_p.L498L|DYSF_uc002sig.4_Silent_p.L498L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L543L|DYSF_uc010fee.3_Silent_p.L512L|DYSF_uc010fef.3_Silent_p.L529L|DYSF_uc002sie.3_Silent_p.L512L|DYSF_uc010feo.3_Silent_p.L544L|DYSF_uc010fej.3_Silent_p.L499L|DYSF_uc010fel.3_Silent_p.L499L|DYSF_uc010fem.3_Silent_p.L513L|DYSF_uc002sif.3_Silent_p.L513L|DYSF_uc010fek.3_Silent_p.L530L NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 512 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 ATGACTACCTGGGCTTCCTCC 0.597000 64 23 0 0 0.000586117 0 0 FBN2 2201 broad.mit.edu 37 5 127866296 127866296 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:127866296G>A uc003kuu.3 - 2 867 c.428C>T c.(427-429)tCa>tTa p.S143L FBN2_uc003kuv.2_Intron|FBN2_uc003kuw.4_Missense_Mutation_p.S143L NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 143 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTTGATTTTGATCCACAGGT 0.393000 28 17 0 0 0.000566183 0 0 TRPC7 57113 broad.mit.edu 37 5 135610477 135610477 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:135610477C>T uc003lbn.2 - 3 1234 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K TRPC7_uc010jef.2_Intron|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.E277K|TRPC7_uc010jei.2_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 338 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGAGATTTTCATACCACATG 0.418000 5 6 0 0 0.00116845 0 0 OR51T1 401665 broad.mit.edu 37 11 4903102 4903102 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:4903102C>T uc010qyp.2 + 0 54 c.54C>T c.(52-54)ttC>ttT p.F18F NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTTTTCTTTCCTCATAGTTC 0.308000 33 7 0 0 0.00198382 0 0 OR5A1 219982 broad.mit.edu 37 11 59210689 59210689 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:59210689C>T uc001nnx.1 + 0 48 c.48C>T c.(46-48)atC>atT p.I16I NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CCATGTTCATCCTCCTGGGAT 0.527000 89 27 0 0 0.00127121 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576648 33576648 + Missense_Mutation SNP T G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:33576648T>G uc003jia.1 - 18 3646 c.3483A>C c.(3481-3483)gaA>gaC p.E1161D ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1076D NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 1161 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTTCTCTTTCTTCCCCTGAGC 0.463000 HNSCC(64;0.19) 108 19 0 0 0.00152264 0 0 NALCN 259232 broad.mit.edu 37 13 101759944 101759944 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr13:101759944C>T uc001vox.1 - 21 2662 c.2473G>A c.(2473-2475)Gaa>Aaa p.E825K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 825 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTCTGAGTTCCTCTTCTTGC 0.498000 69 27 0 0 0.001512 0 0 TAF4 6874 broad.mit.edu 37 20 60574056 60574056 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:60574056G>A uc002ybs.3 - 11 2896 c.2896C>T c.(2896-2898)Ctg>Ttg p.L966L NM_003185 NP_003176 O00268 TAF4_HUMAN Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA. 966 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GCCCTCATCAGGATCTCCCGC 0.557000 231 33 0 0 0.00178596 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96523137 96523137 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:96523137C>T uc002suz.1 - 29 2558 c.1081G>A c.(1081-1083)Gct>Act p.A361T ANKRD36C_uc002sva.1_Non-coding_Transcript SubName: Full=Uncharacterized protein; breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GTCACATCAGCTTCTATCCTA 0.348000 43 16 0 0 0.000566183 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf 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 76 16 0 0 0.000422831 0 0 SPAG17 200162 broad.mit.edu 37 1 118571014 118571014 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:118571014C>T uc001ehk.2 - 25 3681 c.3613G>A c.(3613-3615)Gaa>Aaa p.E1205K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1205 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCTACTTCTTCTTCCTGTAAA 0.408000 78 24 0 0 0.000586117 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G A A rs121913499 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:209113113G>A uc002vcs.3 - 3 640 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle cytosol|peroxisomal matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 69 25 0 0 0.00127121 0 0 KEL 3792 broad.mit.edu 37 7 142641823 142641823 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:142641823C>T uc003wcb.3 - 11 1530 c.1320G>A c.(1318-1320)atG>atA p.M440I NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 440 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGAATAATTTCATGGCCTGTG 0.592000 26 9 0 0 0.000978159 0 0 GABRA4 2557 broad.mit.edu 37 4 46979555 46979555 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:46979555C>T uc003gxg.3 - 3 1349 c.366G>A c.(364-366)atG>atA p.M122I GABRA4_uc021xnz.1_Missense_Mutation_p.M103I|GABRA4_uc021xoa.1_Missense_Mutation_p.M103I NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 122 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCGTTACCATCATATTGTTCA 0.363000 56 12 0 0 0.000978159 0 0 OSM 5008 broad.mit.edu 37 22 30660099 30660099 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:30660099G>A uc003ahb.3 - 2 573 c.532C>T c.(532-534)Ccc>Tcc p.P178S NM_020530 NP_065391 P13725 ONCM_HUMAN Homo sapiens oncostatin M (OSM), mRNA. 178 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GCAGGGGTGGGGGTGGGCGGC 0.642000 30 4 0 0 0.00024832 0 0 BCAS3 54828 broad.mit.edu 37 17 59067416 59067416 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:59067416C>T uc002iyv.4 + 14 1415 c.1306C>T c.(1306-1308)Cct>Tct p.P436S BCAS3_uc010wow.1_Missense_Mutation_p.P223S|BCAS3_uc002iyu.4_Missense_Mutation_p.P436S|BCAS3_uc002iyw.4_Missense_Mutation_p.P432S|BCAS3_uc002iyx.1_Missense_Mutation_p.P251S|BCAS3_uc002iyy.4_Missense_Mutation_p.P207S|BCAS3_uc002iyz.4_5'UTR|BCAS3_uc002iza.4_5'UTR NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 436 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CCCCATCAACCCTTATGGTGG 0.498000 62 25 0 0 0.000720815 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458975 45458975 + RNA SNP A T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:45458975A>T uc001rol.3 - 0 c.220T>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. AGATCCTTGTATTTCCCCAGC 0.428000 19 6 0 0 0.000157383 0 0 NPHS2 7827 broad.mit.edu 37 1 179521770 179521770 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:179521770C>T uc001gmq.4 - 6 926 c.841G>A c.(841-843)Gag>Aag p.E281K AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.E213K|AXDND1_uc001gmr.3_Non-coding_Transcript NM_014625 NP_055440 Q9NP85 PODO_HUMAN Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA. 281 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 GCTTCAGCCTCCACAGCCAGT 0.532000 36 12 0 0 0.00244969 0 0 DNAH11 8701 broad.mit.edu 37 7 21675610 21675610 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:21675610G>A uc003svc.3 + 25 4668 c.4637G>A c.(4636-4638)cGa>cAa p.R1546Q NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1546 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAAGTCCAGCGAACTTGGTCT 0.388000 Kartagener syndrome 29 9 0 0 0.000442599 0 0 FAM59A 64762 broad.mit.edu 37 18 29848121 29848121 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:29848121G>A uc002kxl.3 - 5 2400 c.2344C>T c.(2344-2346)Cct>Tct p.P782S FAM59A_uc002kxk.2_Missense_Mutation_p.P781S NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 782 endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 GATGAGAAAGGGTAGGAGGCA 0.552000 36 11 0 0 0.000673444 0 0 BAI1 575 broad.mit.edu 37 8 143565392 143565392 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:143565392G>A uc003ywm.3 + 10 2368 c.2185G>A c.(2185-2187)Gag>Aag p.E729K NM_001702 NP_001693 O14514 BAI1_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA. 729 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGACAAGTGGGAGGAGGCCCA 0.612000 124 28 0 0 0.00209593 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395946 47395946 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:47395946C>T uc001cqp.4 - 11 1452 c.1401G>A c.(1399-1401)ctG>ctA p.L467L NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 467 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.L467L(2) 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) TGGCCACCTTCAGCTCGTTCA 0.537000 86 34 0 0 0.00111076 0 0 UNC5D 137970 broad.mit.edu 37 8 35579852 35579852 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:35579852C>T uc003xjr.2 + 8 1570 c.1242C>T c.(1240-1242)gtC>gtT p.V414V UNC5D_uc003xjs.2_Silent_p.V409V|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Silent_p.V172V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 414 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCGTGGACGTCATTGACTCTT 0.562000 171 57 0 0 0.000781405 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990330 39990330 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:39990330C>T uc002xjy.1 - 3 2103 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 627 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) ACTTCGGCTTCCACCTTGCGT 0.617000 37 17 0 0 0.000422831 0 0 FAM5B 57795 broad.mit.edu 37 1 177249834 177249834 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:177249834G>A uc001glf.3 + 7 1834 c.1522G>A c.(1522-1524)Gac>Aac p.D508N FAM5B_uc001glg.3_Missense_Mutation_p.D403N NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 508 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCTGGAGACAGACTTGCAGGA 0.597000 41 16 0 0 0.000422831 0 0 COL6A3 1293 broad.mit.edu 37 2 238253335 238253335 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:238253335C>T uc002vwl.2 - 35 7611 c.7326G>A c.(7324-7326)ggG>ggA p.G2442G COL6A3_uc002vwo.2_Silent_p.G2236G|COL6A3_uc010znj.1_Silent_p.G1835G|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.G263G NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2442 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCACCCGGGCCCCCCGTGGGC 0.562000 81 26 0 0 0.000720815 0 0 RGAG1 57529 broad.mit.edu 37 X 109694734 109694734 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:109694734C>T uc004eor.2 + 2 1135 c.889C>T c.(889-891)Ccg>Tcg p.P297S RGAG1_uc011msr.1_Missense_Mutation_p.P297S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 297 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AATACCTACCCCGCTCATGTC 0.488000 51 53 0 0 0.000781405 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176211 63176211 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:63176211G>A uc001nww.3 + 8 1729 c.1461G>A c.(1459-1461)atG>atA p.M487I SLC22A9_uc001nwx.3_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 487 M -> V (in a breast cancer sample; somatic mutation). transmembrane transport integral to membrane p.M487V(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTCCCCTCATGATGATCCTAA 0.478000 42 23 0 0 0.00047179 0 0 PPBP 5473 broad.mit.edu 37 4 74853797 74853797 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:74853797G>A uc003hhj.3 - 0 111 c.24C>T c.(22-24)acC>acT p.T8T NM_002704 NP_002695 P02775 CXCL7_HUMAN Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA. 8 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) TACAGGAAGGGGTGGTATCAA 0.522000 103 36 0 0 0.00111076 0 0 SCNN1G 6340 broad.mit.edu 37 16 23203837 23203837 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:23203837C>T uc002dlm.1 + 3 922 c.783C>T c.(781-783)ttC>ttT p.F261F NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 261 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGACCTGCTTCTTTGATGGAG 0.512000 23 8 0 0 0.000274275 0 0 H6PD 9563 broad.mit.edu 37 1 9324543 9324543 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:9324543C>T uc001apt.3 + 4 2264 c.1991C>T c.(1990-1992)gCc>gTc p.A664V NM_004285 NP_004276 O95479 G6PE_HUMAN Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA. 664 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|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;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CGGCTCTGCGCCGAGGAGGAC 0.662000 96 14 0 0 0.00244969 0 0 IL1RL2 8808 broad.mit.edu 37 2 102851499 102851499 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:102851499G>A uc002tbs.3 + 10 1566 c.1440G>A c.(1438-1440)ggG>ggA p.G480G IL1RL2_uc002tbt.3_Silent_p.G362G NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA. 480 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity p.D479D(1)|p.G480W(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TCCAGGACGGGATGAAGGTTA 0.507000 57 19 0 0 0.00074312 0 0 CPSF1 29894 broad.mit.edu 37 8 145622099 145622099 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:145622099C>T uc003zcj.3 - 23 2713 c.2638G>A c.(2638-2640)Gac>Aac p.D880N NM_013291 NP_037423 Q10570 CPSF1_HUMAN Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA. 880 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) AGCTGAGAGTCGTGGGGGAAG 0.607000 27 7 0 0 0.00198382 0 0 FCHO1 23149 broad.mit.edu 37 19 17877606 17877606 + Missense_Mutation SNP A C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:17877606A>C uc002nhg.3 + 6 602 c.323A>C c.(322-324)aAg>aCg p.K108T FCHO1_uc010ebb.2_Missense_Mutation_p.K108T|FCHO1_uc002nhh.2_Missense_Mutation_p.K108T|FCHO1_uc010xpw.1_Missense_Mutation_p.K58T|FCHO1_uc010ebc.1_Missense_Mutation_p.K115T NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 108 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 GAACAGCTCAAGACCCACAAG 0.607000 25 10 0 0 0.000978159 0 0 SERPINF1 5176 broad.mit.edu 37 17 1673326 1673326 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:1673326C>T uc002ftl.3 + 2 422 c.265C>T c.(265-267)Ctc>Ttc p.L89F NM_002615 NP_002606 P36955 PEDF_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA. 89 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 GGCCACGGCCCTCTCGGCCCT 0.632000 33 10 0 0 0.000442599 0 0 SLC30A4 7782 broad.mit.edu 37 15 45781073 45781073 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:45781073C>T uc001zvj.3 - 4 1172 c.860G>A c.(859-861)gGt>gAt p.G287D NM_013309 NP_037441 O14863 ZNT4_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA. 287 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TATTAGCACACCAACACTCTG 0.398000 78 26 0 0 0.00127121 0 0 CORIN 10699 broad.mit.edu 37 4 47746429 47746429 + Silent SNP G A A rs148119573 byFrequency TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:47746429G>A uc003gxm.3 - 4 882 c.789C>T c.(787-789)aaC>aaT p.N263N CORIN_uc011bzf.2_Silent_p.N124N|CORIN_uc011bzg.2_Silent_p.N196N|CORIN_uc011bzh.1_Silent_p.N263N|CORIN_uc011bzi.1_Silent_p.N263N|CORIN_uc003gxn.4_Silent_p.N263N NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 263 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 ATTGCTTTCCGTTTTCCTGCT 0.378000 103 32 0 0 0.00058488 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18800909 18800909 + Missense_Mutation SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:18800909A>G uc001rdt.3 + 31 4401 c.4285A>G c.(4285-4287)Agt>Ggt p.S1429G PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1470G|PIK3C2G_uc010sic.2_Missense_Mutation_p.S1248G NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1429 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CCGACTCTGTAGTGTCCCACT 0.343000 33 9 0 0 0.000442599 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28217542 28217542 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:28217542G>A uc003nks.1 - 1 738 c.494C>T c.(493-495)tCt>tTt p.S165F ZKSCAN4_uc011dlb.1_Missense_Mutation_p.S10F NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA. 165 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 GCTACTTTGAGACCCTTGAGT 0.483000 126 38 0 0 0.00148497 0 0 abParts 0 broad.mit.edu 37 14 106586347 106586347 + RNA SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:106586347G>A uc021ser.1 - 1811 c.33949C>T abParts_uc001ysv.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. TACTGAAGGTGAATCCAGAGG 0.567000 134 23 0 0 0.000586117 0 0 MTUS2 23281 broad.mit.edu 37 13 30072650 30072650 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr13:30072650G>A uc001usl.4 + 11 3862 c.3804G>A c.(3802-3804)aaG>aaA p.K1268K MTUS2_uc001usm.4_Silent_p.K237K|MTUS2_uc010aau.3_Silent_p.K147K|MTUS2_uc010tdq.2_Silent_p.K20K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 1258 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCAAGAAAAGAAGATTCTTG 0.433000 48 16 0 0 0.000308642 0 0 DCDC2 51473 broad.mit.edu 37 6 24178596 24178596 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:24178596C>T uc003ndx.3 - 8 1590 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K DCDC2_uc003ndy.3_Missense_Mutation_p.E430K|DCDC2_uc003ndw.3_Missense_Mutation_p.E181K NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA. 430 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTTCTTTCCTTGTCTAGG 0.478000 186 76 0 0 0.000781405 0 0 NAV2 89797 broad.mit.edu 37 11 20122559 20122559 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:20122559C>T uc010rdm.2 + 33 6787 c.6426C>T c.(6424-6426)tcC>tcT p.S2142S NAV2_uc001mpp.3_Silent_p.S2022S|NAV2_uc001mpr.4_Silent_p.S2086S|NAV2_uc021qew.1_Silent_p.S2089S|NAV2_uc009yhx.3_Silent_p.S1150S|NAV2_uc009yhz.3_Silent_p.S731S|NAV2_uc001mpu.3_Silent_p.S524S NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 2145 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GCTACGTCTCCCTCCTGATAG 0.557000 94 38 0 0 0.00195071 0 0 KLKB1 3818 broad.mit.edu 37 4 187179291 187179291 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:187179291C>T uc003iyy.3 + 14 1913 c.1842C>T c.(1840-1842)gtC>gtT p.V614V KLKB1_uc011clc.2_Silent_p.V412V|KLKB1_uc011cld.2_3'UTR NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 614 Peptidase S1. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ACACCAAAGTCGCTGAGTACA 0.507000 59 19 0 0 0.000958276 0 0 PRAME 23532 broad.mit.edu 37 22 22892343 22892343 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:22892343G>A uc002zwf.3 - 3 914 c.758C>T c.(757-759)tCt>tTt p.S253F abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S237F|PRAME_uc010gtr.3_Missense_Mutation_p.S253F|PRAME_uc002zwg.3_Missense_Mutation_p.S253F|PRAME_uc002zwh.3_Missense_Mutation_p.S253F|PRAME_uc002zwi.3_Missense_Mutation_p.S253F|PRAME_uc002zwj.3_Missense_Mutation_p.S253F|PRAME_uc002zwk.3_Missense_Mutation_p.S253F NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 253 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CAGGTAAGGAGAAAATTTCGC 0.473000 72 23 0 0 0.00047179 0 0 DHX38 9785 broad.mit.edu 37 16 72132681 72132681 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:72132681G>A uc002fcb.3 + 4 1109 c.754G>A c.(754-756)Gat>Aat p.D252N DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript NM_014003 NP_054722 Q92620 PRP16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA. 252 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GTCCACTCGAGATCGAGACAG 0.637000 34 7 0 0 0.000157383 0 0 EFR3A 23167 broad.mit.edu 37 8 132982757 132982757 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:132982757G>A uc003yte.3 + 9 1230 c.1026G>A c.(1024-1026)ttG>ttA p.L342L NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 342 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATACCCTTTTGAAACATCTGC 0.388000 40 14 0 0 0.00185496 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322395 4322395 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:4322395C>T uc003ghu.3 + 7 1825 c.1650C>T c.(1648-1650)ctC>ctT p.L550L ZBTB49_uc003ghv.3_Silent_p.L33L|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Silent_p.L128L NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA. 550 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 CAGGTGACCTCCGCAGGCATG 0.507000 60 19 0 0 0.000958276 0 0 DAB1 1600 broad.mit.edu 37 1 57489283 57489283 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:57489283G>A uc009vzx.1 - 10 1136 c.816C>T c.(814-816)atC>atT p.I272I DAB1_uc001cyt.1_Silent_p.I270I|DAB1_uc001cyq.1_Silent_p.I270I|DAB1_uc001cyr.1_Silent_p.I186I|DAB1_uc009vzw.1_Silent_p.I254I|DAB1_uc001cys.1_Silent_p.I272I NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 305 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ATGAAGATGGGATAAAGGCAT 0.537000 27 10 0 0 0.000978159 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578710 44578710 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:44578710G>A uc003tlb.3 - 1 1342 c.1286C>T c.(1285-1287)cCc>cTc p.P429L NPC1L1_uc011kbw.2_Missense_Mutation_p.P429L|NPC1L1_uc003tlc.3_Missense_Mutation_p.P429L|NPC1L1_uc003tld.3_Missense_Mutation_p.P429L NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 429 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) GAAGTTCTTGGGCCCCAGCAG 0.597000 56 13 0 0 0.00185496 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43654046 43654046 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:43654046C>T uc001zrk.1 - 4 1931 c.1784G>A c.(1783-1785)aGg>aAg p.R595K ZSCAN29_uc001zrj.1_Missense_Mutation_p.R475K|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R205K|ZSCAN29_uc010bdf.1_Missense_Mutation_p.G524R|ZSCAN29_uc001zrl.1_Non-coding_Transcript NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 595 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) GGGAATTTTCCTTTCAGATCT 0.418000 122 51 0 0 0.000781405 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618821 77618821 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:77618821G>A uc003yau.2 + 1 2885 c.2498G>A c.(2497-2499)gGa>gAa p.G833E ZFHX4_uc003yat.1_Missense_Mutation_p.G833E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G833E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 833 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) GGCCTGACCGGAATGAAGCTG 0.552000 HNSCC(33;0.089) 22 9 0 0 0.000274275 0 0 S1PR1 1901 broad.mit.edu 37 1 101705126 101705127 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:101705126_101705127CC>TT uc021oqt.1 + 0 586_587 c.586_587CC>TT c.(586-588)ccg>TTg p.P196L S1PR1_uc001dud.2_Missense_Mutation_p.P196L|S1PR1_uc009weg.2_Missense_Mutation_p.P196L NM_001400 NP_001391 P21453 S1PR1_HUMAN Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA. 196 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CACCGTGCTGCCGCTCTACCAC 0.564000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 29 0 0 6.4e-05 0 0 CBFA2T3 863 broad.mit.edu 37 16 88958762 88958762 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:88958762C>T uc002fmm.2 - 3 800 c.511G>A c.(511-513)Gcc>Acc p.A171T CBFA2T3_uc002fml.2_Missense_Mutation_p.A85T|CBFA2T3_uc010cif.1_Missense_Mutation_p.A110T|CBFA2T3_uc002fmn.2_Missense_Mutation_p.A146T 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. 171 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH. 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) AGCTGCCGGGCCCCGCAGGCT 0.647000 T RUNX1 AML 28 11 0 0 0.000978159 0 0 FOXP2 93986 broad.mit.edu 37 7 114298171 114298171 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:114298171C>T uc003vhb.3 + 10 1691 c.1317C>T c.(1315-1317)tcC>tcT p.S439S FOXP2_uc003vgu.3_Intron|FOXP2_uc003vgz.3_Silent_p.S464S|FOXP2_uc003vha.3_Silent_p.S347S|FOXP2_uc011kmv.2_Silent_p.S438S|FOXP2_uc011kmu.2_Silent_p.S456S|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Silent_p.S9S NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 439 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TGGAGACATCCCCACAGAGCT 0.522000 81 29 0 0 0.00178596 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060964 76060964 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:76060964G>A uc002jud.2 + 4 3157 c.2557G>A c.(2557-2559)Gtg>Atg p.V853M TNRC6C_uc002juf.2_Missense_Mutation_p.V850M|TNRC6C_uc002jue.2_Missense_Mutation_p.V850M NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA. 853 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation RNA binding|nucleotide binding p.P852P(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGAGCCGCCGGTGGCATTTGG 0.597000 25 9 0 0 0.000274275 0 0 DSC1 1823 broad.mit.edu 37 18 28725728 28725728 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:28725728C>T uc002kwn.3 - 6 1047 c.785G>A c.(784-786)gGa>gAa p.G262E DSC1_uc002kwm.3_Missense_Mutation_p.G262E NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 262 Cadherin 2. 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) GGTCACTTTTCCCACTGAAGT 0.353000 65 27 0 0 0.00209593 0 0 ACOT11 26027 broad.mit.edu 37 1 55063063 55063063 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:55063063G>A uc001cxm.2 + 6 915 c.739G>A c.(739-741)Gag>Aag p.E247K ACOT11_uc001cxj.2_Missense_Mutation_p.E125K|ACOT11_uc001cxk.3_Missense_Mutation_p.E213K|ACOT11_uc001cxl.2_Missense_Mutation_p.E247K NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 247 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GGCCTGGATGGAGAATGTGGC 0.642000 21 4 0 0 0.00024832 0 0 HEATR5A 25938 broad.mit.edu 37 14 31762778 31762778 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:31762778G>A uc001wrf.4 - 35 6059 c.5874C>T c.(5872-5874)tcC>tcT p.S1958S HEATR5A_uc010ami.3_Silent_p.S1488S NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 1952 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CCAAAAGGAAGGAAATGAGGA 0.378000 52 20 0 0 0.00121646 0 0 OR10G3 26533 broad.mit.edu 37 14 22038356 22038356 + Nonsense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:22038356G>A uc010tmb.2 - 0 520 c.520C>T c.(520-522)Cag>Tag p.Q174* NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA. 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) TAATCCACCTGATTGGGCCCA 0.572000 75 39 0 0 0.00111076 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837191 12837191 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:12837191G>A uc001aui.3 + 2 928 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 301 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CGTAATGACCGAATGCCTGCT 0.547000 146 41 0 0 0.000680045 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595018 140595018 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:140595018C>T uc003lja.1 + 0 1510 c.1323C>T c.(1321-1323)atC>atT p.I441I NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 441 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGTGCTGATCGCCGATGTCA 0.552000 47 39 0 0 0.00111076 0 0 YSK4 80122 broad.mit.edu 37 2 135738822 135738822 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:135738822G>A uc002tue.1 - 8 3520 c.3489C>T c.(3487-3489)ttC>ttT p.F1163F YSK4_uc002tuf.1_Silent_p.F345F|YSK4_uc010fnc.1_Silent_p.F297F|YSK4_uc010fnd.1_Silent_p.F1050F|YSK4_uc010zbg.1_Silent_p.F295F|YSK4_uc021vpz.1_Silent_p.F24F|YSK4_uc002tuh.4_Silent_p.F891F|YSK4_uc002tui.4_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 1163 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TATATTTACAGAACACCATCT 0.403000 87 31 0 0 0.00178596 0 0 KIF2B 84643 broad.mit.edu 37 17 51901905 51901905 + Missense_Mutation SNP G A A rs143245314 byFrequency TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:51901905G>A uc002iua.2 + 0 1667 c.1511G>A c.(1510-1512)cGg>cAg p.R504Q KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 504 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.R504W(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTGGTGCTCCGGGACTCCTTT 0.473000 45 13 0 0 0.00244969 0 0 OLFM4 10562 broad.mit.edu 37 13 53608491 53608491 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr13:53608491C>T uc001vhl.3 + 1 309 c.213C>T c.(211-213)tcC>tcT p.S71S OLFM4_uc001vhk.2_Silent_p.S71S NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN Homo sapiens olfactomedin 4 (OLFM4), mRNA. 71 Ser-rich. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AGTTGTTTTCCAATTTCACCG 0.478000 79 24 0 0 0.000586117 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234136 61234136 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:61234136G>A uc010xeo.2 + 6 1170 c.1170G>A c.(1168-1170)agG>agA p.R390R SERPINB12_uc010xen.2_Silent_p.R370R NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 370 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity p.R370R(1) kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TCTCGGAAAGGTCACTACGAT 0.453000 78 20 0 0 0.000958276 0 0 PARVG 64098 broad.mit.edu 37 22 44585106 44585107 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:44585106_44585107GG>AA uc011aqe.2 + 5 784_785 c.360_361GG>AA c.(358-363)gaggag>gaAAag p.E121K PARVG_uc003bep.3_Missense_Mutation_p.E121K|PARVG_uc011aqf.2_Missense_Mutation_p.E121K|PARVG_uc021wrc.1_Non-coding_Transcript NM_001137605 NP_071424 Q9HBI0 PARVG_HUMAN Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA. 121 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) TGCAGCTGGAGGAGTGGCAGGC 0.634000 41 7 0 0 6.4e-05 0 0 LAMA3 3909 broad.mit.edu 37 18 21487794 21487794 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:21487794G>A uc002kuq.3 + 53 6996 c.6910G>A c.(6910-6912)Gat>Aat p.D2304N LAMA3_uc002kur.3_Missense_Mutation_p.D2248N|LAMA3_uc002kus.4_Missense_Mutation_p.D695N|LAMA3_uc002kut.4_Missense_Mutation_p.D639N NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2304 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGGTTCTGGATGGGCTCAA 0.458000 80 35 0 0 0.00058488 0 0 SNAPC1 6617 broad.mit.edu 37 14 62259558 62259558 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:62259558C>T uc001xft.3 + 8 1114 c.1010C>T c.(1009-1011)cCt>cTt p.P337L NM_003082 NP_003073 Q16533 SNPC1_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA. 337 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) GAAGATAAACCTTTAAGTCTG 0.289000 94 42 0 0 0.00222228 0 0 TMEM11 8834 broad.mit.edu 37 17 21101819 21101819 + Missense_Mutation SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:21101819T>C uc002gyp.2 - 1 840 c.397A>G c.(397-399)Aag>Gag p.K133E TMEM11_uc002gyq.2_3'UTR NM_003876 NP_003867 P17152 TMM11_HUMAN Homo sapiens transmembrane protein 11 (TMEM11), transcript variant 1, mRNA. 133 mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 ACTTGGTACTTGCAGCAAGGG 0.592000 72 24 0 0 0.00229938 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913198 29913198 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:29913198G>A uc002dut.3 + 0 1052 c.906G>A c.(904-906)gaG>gaA p.E302E BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 302 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CCCGGCTCGAGGGCCGCTGTG 0.637000 33 12 0 0 0.00244969 0 0 ATP13A4 84239 broad.mit.edu 37 3 193151704 193151704 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:193151704C>T uc003ftd.3 - 24 2880 c.2772G>A c.(2770-2772)gaG>gaA p.E924E ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 924 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) GGCTGTTTGTCTCCTGAAAAT 0.333000 78 8 0 0 0.000673444 0 0 BCL11A 53335 broad.mit.edu 37 2 60689097 60689097 + Missense_Mutation SNP C A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:60689097C>A uc002sae.1 - 3 1178 c.950G>T c.(949-951)aGg>aTg p.R317M BCL11A_uc002sab.3_Missense_Mutation_p.R317M|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.R283M|BCL11A_uc002sad.1_Missense_Mutation_p.R165M|BCL11A_uc002saf.1_Missense_Mutation_p.R283M NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 317 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TCTAAGTCTCCTAGAGAAATC 0.602000 T IGH@ B-CLL 475 10 0.00136819 0.0062792 0.00136819 1 0 LAD1 3898 broad.mit.edu 37 1 201352246 201352246 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:201352246C>T uc001gwm.3 - 6 1577 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 448 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCCGCCAGTTCCTTCTCAAAG 0.592000 102 47 0 0 0.0025221 0 0 UBASH3A 53347 broad.mit.edu 37 21 43846841 43846841 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr21:43846841C>T uc002zbe.3 + 7 1166 c.1082C>T c.(1081-1083)tCc>tTc p.S361F UBASH3A_uc002zbf.3_Missense_Mutation_p.S323F|UBASH3A_uc010gpe.3_Missense_Mutation_p.S323F|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 361 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GACCTGAACTCCAGAAAGGAT 0.517000 58 21 0 0 0.00229938 0 0 FRMPD1 22844 broad.mit.edu 37 9 37692733 37692733 + Missense_Mutation SNP C T T rs3747540 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:37692733C>T uc004aag.1 + 1 139 c.95C>T c.(94-96)tCg>tTg p.S32L FRMPD1_uc004aah.1_Missense_Mutation_p.S32L NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 32 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CGGGACAGCTCGGCCCGGTAA 0.547000 29 14 0 0 0.00244969 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534972 96534972 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:96534972G>A uc010qnz.2 + 1 326 c.326G>A c.(325-327)gGa>gAa p.G109E CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G87E NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 109 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCTAACAGAGGATTTGGTAGG 0.517000 89 21 0 0 0.00152264 0 0 EGFLAM 133584 broad.mit.edu 37 5 38431313 38431313 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:38431313G>A uc003jlc.2 + 14 2435 c.2089G>A c.(2089-2091)Gag>Aag p.E697K EGFLAM_uc003jlb.2_Missense_Mutation_p.E697K|EGFLAM_uc003jle.2_Missense_Mutation_p.E463K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E63K NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 697 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CAACTGGCACGAGCTTCGTGT 0.448000 48 16 0 0 0.00074312 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079155 15079155 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:15079155C>T uc002naa.1 - 2 515 c.508G>A c.(508-510)Gag>Aag p.E170K SLC1A6_uc010dzu.1_Missense_Mutation_p.E170K|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Missense_Mutation_p.E170K|SLC1A6_uc002nac.3_Missense_Mutation_p.E170K|SLC1A6_uc002nad.1_Missense_Mutation_p.E170K NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 170 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGGATGGTCTCGATCCGGCCC 0.522000 25 5 0 0 0.00116845 0 0 P2RX1 5023 broad.mit.edu 37 17 3802970 3802970 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:3802970C>T uc002fww.3 - 7 1274 c.833G>A c.(832-834)gGg>gAg p.G278E NM_002558 NP_002549 P51575 P2RX1_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA. 278 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) TTCGTACAGCCCATGGAACTC 0.562000 46 21 0 0 0.00188189 0 0 GGCX 2677 broad.mit.edu 37 2 85782649 85782649 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:85782649G>A uc002sps.3 - 5 789 c.683C>T c.(682-684)tCc>tTc p.S228F GGCX_uc010yss.2_Missense_Mutation_p.S67F|GGCX_uc010yst.2_Missense_Mutation_p.S171F NM_000821 NP_000812 P38435 VKGC_HUMAN Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA. 228 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) ATATTCCATGGAATAGCCTTC 0.463000 65 20 0 0 0.00152264 0 0 GUSB 2990 broad.mit.edu 37 7 65425996 65425997 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:65425996_65425997GG>AA uc003tun.3 - 11 1974_1975 c.1843_1844CC>TT c.(1843-1845)cca>TTa p.P615L GUSB_uc011kdt.2_Missense_Mutation_p.P469L NM_000181 NP_000172 P08236 BGLR_HUMAN Homo sapiens glucuronidase, beta (GUSB), mRNA. 615 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TGCACTTTTTGGTTGTCTCTGC 0.441000 239 64 0 0 6.4e-05 0 0 TAOK3 51347 broad.mit.edu 37 12 118673365 118673365 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:118673365G>A uc001twx.3 - 7 844 c.549C>T c.(547-549)taC>taT p.Y183Y TAOK3_uc001tww.3_Silent_p.Y13Y|TAOK3_uc001twy.4_Silent_p.Y183Y NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN Homo sapiens TAO kinase 3 (TAOK3), mRNA. 183 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTACATACCAGTAAGGTGTGC 0.418000 63 16 0 0 0.000958276 0 0 NLRP12 91662 broad.mit.edu 37 19 54327308 54327308 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:54327308C>T uc002qcj.4 - 0 341 c.121G>A c.(121-123)Ggc>Agc p.G41S NLRP12_uc002qch.4_Missense_Mutation_p.G41S|NLRP12_uc002qci.4_Missense_Mutation_p.G41S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G41S NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 41 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGGATCTTGCCTTCTCCCAGC 0.602000 47 21 0 0 0.00188189 0 0 ZNF77 58492 broad.mit.edu 37 19 2933969 2933969 + Missense_Mutation SNP C A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:2933969C>A uc002lws.4 - 3 1287 c.1156G>T c.(1156-1158)Ggg>Tgg p.G386W NM_021217 NP_067040 Q15935 ZNF77_HUMAN Homo sapiens zinc finger protein 77 (ZNF77), mRNA. 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGCCTTCCCACACTGCTTG 0.502000 84 5 0.00198382 0.00908949 0.00198382 1 0 SCG2 7857 broad.mit.edu 37 2 224462908 224462908 + Silent SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:224462908A>G uc021vxk.1 - 0 1093 c.1093T>C c.(1093-1095)Tta>Cta p.L365L SCG2_uc002vnm.3_Silent_p.L365L NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 365 MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATCTCAATTAAGTCTTCTGGG 0.468000 70 17 0 0 0.000422831 0 0 SEC23IP 11196 broad.mit.edu 37 10 121668556 121668556 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:121668556G>A uc001leu.2 + 4 1315 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K SEC23IP_uc010qtc.2_Missense_Mutation_p.E158K NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA. 369 Golgi organization|intracellular protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) ATTATAGGCTGAATATAAAAA 0.363000 38 11 0 0 0.00136819 0 0 ZFP42 132625 broad.mit.edu 37 4 188924208 188924208 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:188924208C>T uc003izh.1 + 3 655 c.247C>T c.(247-249)Caa>Taa p.Q83* ZFP42_uc003izi.1_Nonsense_Mutation_p.Q83*|ZFP42_uc021xvm.1_Nonsense_Mutation_p.Q83* NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 83 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TGAGTTTTCTCAACCCATCCT 0.463000 61 16 0 0 0.000422831 0 0 MUC5B 727897 broad.mit.edu 37 11 1161987 1161987 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:1161987C>T uc021qbr.1 + 13 1625 c.1578C>T c.(1576-1578)acC>acT p.T526T Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 517 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAACGTCACCATCTTCAGAC 0.637000 58 14 0 0 0.000566183 0 0 GRM5 2915 broad.mit.edu 37 11 88780869 88780869 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:88780869C>T uc001pcq.3 - 0 372 c.172G>A c.(172-174)Ggg>Agg p.G58R GRM5_uc009yvm.3_Missense_Mutation_p.G58R|GRM5_uc009yvn.2_Missense_Mutation_p.G58R NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 58 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CGGACCGCCCCACACTTCCTC 0.522000 37 17 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 8969281 8969281 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:8969281C>T uc002mkp.3 - 78 43267 c.43063G>A c.(43063-43065)Gat>Aat p.D14355N MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D1155N|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14451 SEA 15. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCACCGCATCCTCAATATTC 0.473000 88 34 0 0 0.00058488 0 0 DNAH3 55567 broad.mit.edu 37 16 20976343 20976344 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:20976343_20976344CC>TT uc010vbe.2 - 52 8862_8863 c.8862_8863GG>AA c.(8860-8865)gaggaa>gaAAaa p.E2955K DNAH3_uc010vbd.2_Missense_Mutation_p.E390K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2955 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.E2954E(3) 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) TCAATGTTTTCCTCCAAGTCCT 0.510000 153 41 0 0 6.4e-05 0 0 THUMPD2 80745 broad.mit.edu 37 2 39998751 39998751 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:39998751G>A uc002rru.2 - 1 193 c.156C>T c.(154-156)ttC>ttT p.F52F THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_5'UTR|THUMPD2_uc010ynu.1_Silent_p.F52F NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA. 52 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) AACAGGTGGTGAAAAAAACCT 0.289000 64 18 0 0 0.000566183 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74834725 74834725 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:74834725C>T uc001dge.2 + 15 1711 c.1644C>T c.(1642-1644)ctC>ctT p.L548L FPGT-TNNI3K_uc001dgc.2_Silent_p.L548L|FPGT-TNNI3K_uc001dgd.3_Silent_p.L548L|FPGT-TNNI3K_uc001dgf.2_Silent_p.L447L NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 447 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATATTCTCCTCCTAAGAGCTG 0.323000 31 9 0 0 0.00136819 0 0 CPN1 1369 broad.mit.edu 37 10 101829562 101829562 + Missense_Mutation SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:101829562T>C uc001kql.2 - 2 745 c.485A>G c.(484-486)aAc>aGc p.N162S NM_001308 NP_001299 P15169 CBPN_HUMAN Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA. 162 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) ATCAGGGAAGTTGCGGTTCAG 0.463000 100 25 0 0 0.000720815 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317817 30317817 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:30317817G>A uc009xle.2 - 2 1397 c.1260C>T c.(1258-1260)ttC>ttT p.F420F KIAA1462_uc001iux.3_Silent_p.F420F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.F282F NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 420 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGTACTGAACGAAGCCGTCAT 0.522000 82 32 0 0 0.00178596 0 0 DAXX 1616 broad.mit.edu 37 6 33287991 33287991 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:33287991C>T uc003oec.3 - 4 1466 c.1262G>A c.(1261-1263)gGa>gAa p.G421E ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.G421E|DAXX_uc021ywo.1_Missense_Mutation_p.G421E|DAXX_uc011dre.2_Missense_Mutation_p.G433E|DAXX_uc003oed.3_Missense_Mutation_p.G421E|DAXX_uc011drd.2_Missense_Mutation_p.G346E|DAXX_uc010juw.2_3'UTR NM_001350 NP_001241646 Q9UER7 DAXX_HUMAN Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA. 421 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent PML body|chromosome, centromeric region|cytosol|nucleolus androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GGATGCCATTCCACTAGGGCC 0.537000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 81 24 0 0 0.001512 0 0 ZNF831 128611 broad.mit.edu 37 20 57768629 57768629 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:57768629C>T uc002yan.3 + 0 2555 c.2555C>T c.(2554-2556)tCt>tTt p.S852F NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 852 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CAGCCTGCCTCTTTGTCATCC 0.642000 53 19 0 0 0.00152264 0 0 OR5M1 390168 broad.mit.edu 37 11 56380724 56380724 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:56380724G>A uc001nja.1 - 0 255 c.255C>T c.(253-255)ttC>ttT p.F85F OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F85F(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GTTCTGAGAGGAAATTGTGCA 0.448000 110 26 0 0 0.000586117 0 0 POU6F1 5463 broad.mit.edu 37 12 51584204 51584204 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:51584204C>T uc001rxy.3 - 4 924 c.732G>A c.(730-732)caG>caA p.Q244Q POU6F1_uc001rxz.3_Silent_p.Q244Q|POU6F1_uc001rya.3_Silent_p.Q244Q NM_002702 NP_002693 Q14863 PO6F1_HUMAN Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA. 244 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity p.Q244fs*3(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CCTCTATGGCCTGGGGGGTGA 0.557000 123 31 0 0 0.00209593 0 0 CARD10 29775 broad.mit.edu 37 22 37906324 37906324 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:37906324C>T uc003asx.1 - 3 821 c.804G>A c.(802-804)aaG>aaA p.K268K CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Silent_p.K268K NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 268 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) tctccttctccttctccttct 0.617000 29 14 0 0 0.00185496 0 0 NCAN 1463 broad.mit.edu 37 19 19359601 19359601 + Missense_Mutation SNP T G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:19359601T>G uc002nlz.3 + 13 3829 c.3730T>G c.(3730-3732)Tgc>Ggc p.C1244G NCAN_uc002nma.3_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1244 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AAGGTACCAGTGCAATGAAGG 0.562000 53 16 0 0 0.000308642 0 0 ZNF831 128611 broad.mit.edu 37 20 57769536 57769536 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:57769536C>T uc002yan.3 + 0 3462 c.3462C>T c.(3460-3462)tcC>tcT p.S1154S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1154 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCTTGTCTTCCCACTCAGGGA 0.682000 50 22 0 0 0.00278032 0 0 PTPRJ 5795 broad.mit.edu 37 11 48161159 48161159 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:48161159C>T uc001ngp.4 + 10 2629 c.2274C>T c.(2272-2274)gcC>gcT p.A758A PTPRJ_uc010rhr.1_Silent_p.A203A NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 758 Fibronectin type-III 8. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCAGTGGAGCCTGGAACAATG 0.537000 48 19 0 0 0.00229938 0 0 DNAH8 1769 broad.mit.edu 37 6 38709588 38709588 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:38709588C>T uc021yzh.1 + 7 1327 c.1218C>T c.(1216-1218)atC>atT p.I406I DNAH8_uc003ooe.2_Silent_p.I189I 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 TCAACTATATCATTGAGCAGA 0.388000 44 15 0 0 0.000422831 0 0 TTLL10 254173 broad.mit.edu 37 1 1120465 1120465 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:1120465G>A uc001acy.2 + 12 1528 c.1377G>A c.(1375-1377)aaG>aaA p.K459K TTLL10_uc010nyg.1_Silent_p.K459K|TTLL10_uc001acz.2_Silent_p.K386K NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA. 459 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCTCGCCAAGGACTGGGTCT 0.637000 22 6 0 0 0.00116845 0 0 FAM196A 642938 broad.mit.edu 37 10 128973494 128973494 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:128973494C>T uc001lju.1 - 0 1207 c.1166G>A c.(1165-1167)gGa>gAa p.G389E DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.G389E|FAM196A_uc001ljv.1_Missense_Mutation_p.G389E|FAM196A_uc009yap.1_Missense_Mutation_p.G389E NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA. 389 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ATGGGCCTCTCCTTTTTCCAA 0.488000 148 40 0 0 0.000680045 0 0 N4BP2 55728 broad.mit.edu 37 4 40104765 40104765 + Missense_Mutation SNP A C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:40104765A>C uc003guy.4 + 3 1638 c.1300A>C c.(1300-1302)Aag>Cag p.K434Q N4BP2_uc010ifq.3_Missense_Mutation_p.K354Q|N4BP2_uc010ifr.3_Missense_Mutation_p.K354Q NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 434 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TGTAAGAAAGAAGACATCTTA 0.378000 92 4 0 0 0.00198382 0 0 CCDC37 348807 broad.mit.edu 37 3 126137359 126137359 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:126137359C>T uc010hsg.1 + 4 539 c.480C>T c.(478-480)ttC>ttT p.F160F CCDC37_uc003eiu.1_Silent_p.F159F NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 159 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GGCAAATGTTCCTCCTCCAGG 0.612000 22 7 0 0 0.000157383 0 0 RSF1 51773 broad.mit.edu 37 11 77378461 77378461 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:77378461C>T uc001oyn.3 - 15 3947 c.3827G>A c.(3826-3828)cGa>cAa p.R1276Q RSF1_uc001oym.3_Missense_Mutation_p.R1024Q NM_016578 NP_057662 Q96T23 RSF1_HUMAN Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA. 1276 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding p.R1276*(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GTCTGTGCTTCGGCCCCGCTT 0.493000 75 29 0 0 0.0024448 0 0 USP26 83844 broad.mit.edu 37 X 132160255 132160255 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:132160255G>A uc011mvf.2 - 0 2046 c.1994C>T c.(1993-1995)tCa>tTa p.S665L USP26_uc010nrm.1_Missense_Mutation_p.S665L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 665 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTGACAAAGTGAGGTATCTTC 0.428000 31 32 0 0 0.00283554 0 0 PPP1R10 5514 broad.mit.edu 37 6 30577733 30577733 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:30577733C>T uc003nqn.1 - 3 542 c.-10_splice c.e3-1 PPP1R10_uc010jsc.1_Splice_Site NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 ATGGTGGTTTCTATGGTAAGA 0.468000 50 22 0 0 0.00229938 0 0 MUC17 140453 broad.mit.edu 37 7 100684970 100684970 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:100684970G>A uc003uxp.1 + 2 10326 c.10273G>A c.(10273-10275)Gac>Aac p.D3425N MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3425 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.V3424V(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTGTGGACTCCAACAC 0.502000 196 65 0 0 0.000781405 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769601 15769601 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:15769601C>T uc010xok.2 + 11 1429 c.1379C>T c.(1378-1380)cCc>cTc p.P460L CYP4F3_uc010xol.2_Missense_Mutation_p.P460L|CYP4F3_uc002nbj.3_Missense_Mutation_p.P460L|CYP4F3_uc010xom.2_Missense_Mutation_p.P311L|CYP4F3_uc002nbk.3_Missense_Mutation_p.P460L|CYP4F3_uc010xon.2_Missense_Mutation_p.P170L NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 460 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCTTTTATTCCCTTCTCAGCA 0.582000 115 35 0 0 0.000953801 0 0 MAP3K12 7786 broad.mit.edu 37 12 53877250 53877250 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:53877250C>T uc001sdn.2 - 9 1767 c.1496G>A c.(1495-1497)cGg>cAg p.R499Q MAP3K12_uc001sdm.2_Missense_Mutation_p.R466Q NM_001193511 NP_001180440 Q12852 M3K12_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA. 466 JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TGGGCACCTCCGCTCTAAAGC 0.572000 69 19 0 0 0.00121646 0 0 HMCN1 83872 broad.mit.edu 37 1 186043883 186043883 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:186043883C>T uc001grq.1 + 52 8379 c.8150C>T c.(8149-8151)tCc>tTc p.S2717F MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2717 Ig-like C2-type 25. 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 CCCCTTAAATCCGATGATCAT 0.353000 38 11 0 0 0.00136819 0 0 TOR3A 64222 broad.mit.edu 37 1 179064332 179064332 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:179064332G>A uc001gmd.3 + 5 1325 c.1173G>A c.(1171-1173)agG>agA p.R391R TOR3A_uc010pnd.2_Silent_p.R175R NM_022371 NP_071766 Q9H497 TOR3A_HUMAN Homo sapiens torsin family 3, member A (TOR3A), mRNA. 391 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 TTTCCCAGAGGATTAACTACT 0.488000 151 46 0 0 0.000781405 0 0 BCL11B 64919 broad.mit.edu 37 14 99723868 99723868 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:99723868C>T uc001yga.3 - 1 634 c.367G>A c.(367-369)Gaa>Aaa p.E123K BCL11B_uc001ygb.3_Missense_Mutation_p.E123K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 123 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGGTCATCTTCGTCGGGGGTG 0.607000 T TLX3 T-ALL 118 7 0 0 0.00198382 0 0 ABCA13 154664 broad.mit.edu 37 7 48273685 48273685 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:48273685C>T uc003toq.2 + 7 858 c.834C>T c.(832-834)tcC>tcT p.S278S ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 278 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATCTCAAATCCCAGTTTGGCT 0.463000 51 25 0 0 0.000586117 0 0 CD96 10225 broad.mit.edu 37 3 111263901 111263901 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:111263901G>A uc003dxw.3 + 1 240 c.70G>A c.(70-72)Gaa>Aaa p.E24K CD96_uc003dxv.3_Missense_Mutation_p.E24K|CD96_uc003dxx.3_Missense_Mutation_p.E24K|CD96_uc010hpy.1_Missense_Mutation_p.E24K NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 24 cell adhesion|immune response|regulation of immune response integral to plasma membrane p.E24K(2) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 AGGAGTTTGGGAAAAAACAGT 0.403000 Opitz Trigonocephaly syndrome 96 21 0 0 0.00188189 0 0 RGS11 8786 broad.mit.edu 37 16 320597 320597 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:320597G>A uc002cgj.1 - 14 1134 c.1131C>T c.(1129-1131)acC>acT p.T377T LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.T356T|RGS11_uc010bqs.1_Silent_p.T366T|RGS11_uc002cgk.1_Silent_p.T193T NM_183337 NP_003825 O94810 RGS11_HUMAN Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA. 377 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCCCTCCAGGGTCTGCTCCA 0.657000 11 7 0 0 0.000157383 0 0 FAM82A2 55177 broad.mit.edu 37 15 41044348 41044348 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:41044348C>T uc001zmp.1 - 2 401 c.216G>A c.(214-216)ggG>ggA p.G72G FAM82A2_uc001zmo.1_Silent_p.G72G|FAM82A2_uc001zmq.1_Silent_p.G72G NM_018145 NP_060615 Q96TC7 RMD3_HUMAN Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA. 72 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 CATCTCCAGCCCCACCTGGGA 0.607000 19 9 0 0 0.000978159 0 0 MAP1A 4130 broad.mit.edu 37 15 43816125 43816125 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:43816125C>T uc001zrt.3 + 3 2921 c.2454C>T c.(2452-2454)gcC>gcT p.A818A NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 818 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) TAGTGGCTGCCCCTTTGGCTG 0.522000 34 16 0 0 0.000566183 0 0 SLC16A8 23539 broad.mit.edu 37 22 38474436 38474436 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:38474436C>T uc003auu.3 - 4 1604 c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K NM_013356 NP_037488 O95907 MOT3_HUMAN Homo sapiens solute carrier family 16, member 8 (monocarboxylic acid transporter 3) (SLC16A8), mRNA. 492 blood coagulation|leukocyte migration|pyruvate metabolic process integral to plasma membrane|membrane fraction lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity kidney(1)|large_intestine(1)|prostate(1) 3 Melanoma(58;0.045) Pyruvic acid(DB00119) GCCTCTATTTCTGGTTCTGTG 0.632000 64 29 0 0 0.00106085 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676798 7676798 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:7676798C>T uc002mgu.4 + 12 1601 c.1500C>T c.(1498-1500)ctC>ctT p.L500L CAMSAP3_uc002mgv.4_Silent_p.L473L|CAMSAP3_uc002mgw.3_5'Flank NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 473 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 AGCCCCGGCTCCTCCCAGATG 0.716000 15 12 0 0 0.00185496 0 0 PARD3 56288 broad.mit.edu 37 10 34400253 34400253 + Missense_Mutation SNP C A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:34400253C>A uc010qej.2 - 24 4245 c.3915G>T c.(3913-3915)gaG>gaT p.E1305D PARD3_uc010qep.2_Missense_Mutation_p.E1215D|PARD3_uc010qeq.2_Missense_Mutation_p.E1193D|PARD3_uc010qek.2_Missense_Mutation_p.E1302D|PARD3_uc010qel.2_Missense_Mutation_p.E1268D|PARD3_uc010qem.2_Missense_Mutation_p.E1289D|PARD3_uc010qen.2_Missense_Mutation_p.E1259D|PARD3_uc010qeo.2_Missense_Mutation_p.E1222D NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 1305 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGCTGGGCCCCTCGGAAGGAG 0.602000 52 17 0.000566183 0.00260275 0.000566183 1 0 JAG1 182 broad.mit.edu 37 20 10653613 10653614 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:10653613_10653614GG>AA uc002wnw.2 - 1 638_639 c.122_123CC>TT c.(121-123)tcc>tTT p.S41F NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 41 Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CGTTCTGCATGGACAGGATCTC 0.619000 Alagille Syndrome 48 7 0 0 6.4e-05 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886630 9886630 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:9886630C>T uc002koi.4 + 1 603 c.154C>T c.(154-156)Cta>Tta p.L52L TXNDC2_uc002koh.4_5'UTR|TXNDC2_uc021ugx.1_5'Flank NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 52 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 TCTCCTGGCCCTAGAGTTCTT 0.438000 66 15 0 0 0.00074312 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513354 76513354 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:76513354G>A uc002fex.1 + 10 1949 c.1810G>A c.(1810-1812)Gga>Aga p.G604R CNTNAP4_uc002feu.1_Missense_Mutation_p.G600R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G465R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G528R|CNTNAP4_uc002few.2_Missense_Mutation_p.G576R NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 601 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TAAGCACAGAGGAAATACTTC 0.333000 177 50 0 0 0.000781405 0 0 TMCO5A 145942 broad.mit.edu 37 15 38229154 38229154 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:38229154G>A uc001zjw.3 + 2 349 c.247G>A c.(247-249)Gaa>Aaa p.E83K TMCO5A_uc001zjv.1_Missense_Mutation_p.E83K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E83K NM_152453 NP_689666 Q8N6Q1 TMC5A_HUMAN Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA. 83 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 GGAGCTGGAGGAAGAAACAGC 0.478000 36 12 0 0 0.000308642 0 0 MTMR2 8898 broad.mit.edu 37 11 95590720 95590721 + Nonsense_Mutation DNP CT TA TA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:95590720_95590721CT>TA uc001pfu.3 - 6 902_903 c.649_650AG>TA c.(649-651)agg>TAg p.R217* MTMR2_uc001pfv.3_Nonsense_Mutation_p.R145*|MTMR2_uc001pfs.3_Nonsense_Mutation_p.R145*|MTMR2_uc001pft.3_Nonsense_Mutation_p.R145*|MTMR2_uc010ruj.1_Nonsense_Mutation_p.R200* NM_016156 NP_958438 Q13614 MTMR2_HUMAN Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA. 217 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACATACCTGCCTTCTATACTCT 0.342000 42 13 0 0 6.4e-05 0 0 MAP1A 4130 broad.mit.edu 37 15 43819889 43819889 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:43819889C>T uc001zrt.3 + 3 6685 c.6218C>T c.(6217-6219)cCa>cTa p.P2073L NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 2073 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) AGCAAAGGCCCAAGCCCCCCT 0.617000 21 5 0 0 0.00116845 0 0 DAGLA 747 broad.mit.edu 37 11 61503251 61503251 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:61503251C>T uc001nsa.3 + 11 1369 c.1253C>T c.(1252-1254)cCc>cTc p.P418L NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 418 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GAGCGCCTCCCCGTGGAGGGG 0.662000 13 9 0 0 0.000442599 0 0 HCN2 610 broad.mit.edu 37 19 590557 590557 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:590557C>T uc002lpe.3 + 0 665 c.612C>T c.(610-612)atC>atT p.I204I NM_001194 NP_001185 Q9UL51 HCN2_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA. 204 Involved in subunit assembly (By similarity). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 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) CCTGGATCATCCACCCGTACA 0.731000 14 10 0 0 0.000442599 0 0 STX6 10228 broad.mit.edu 37 1 180974451 180974451 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:180974451C>T uc021pfr.1 - 1 421 c.184G>A c.(184-186)Gag>Aag p.E62K STX6_uc010pnr.2_Intron NM_005819 NP_005810 O43752 STX6_HUMAN Homo sapiens syntaxin 6 (STX6), mRNA. 62 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 TCAAGGTCCTCTAGATCCCAC 0.473000 143 42 0 0 0.000781405 0 0 GRIN1 2902 broad.mit.edu 37 9 140040228 140040228 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:140040228C>T uc004clk.3 + 2 774 c.444C>T c.(442-444)tcC>tcT p.S148S GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Silent_p.S145S|GRIN1_uc004cln.3_Silent_p.S148S|GRIN1_uc004clo.3_Silent_p.S148S|GRIN1_uc004clm.3_Silent_p.S148S|GRIN1_uc004cll.3_Silent_p.S148S NM_007327 NP_015566 Q05586 NMDZ1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA. 148 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCACCAGTCCAGCGTGTGGT 0.677000 33 7 0 0 0.000157383 0 0 COL4A4 1286 broad.mit.edu 37 2 227915811 227915811 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:227915811C>T uc021vxr.1 - 31 3133 c.3032G>A c.(3031-3033)gGa>gAa p.G1011E COL4A4_uc021vxs.1_Missense_Mutation_p.G1011E NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1011 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) TCTGTGAAATCCAGGTGGTCC 0.547000 116 39 0 0 0.00111076 0 0 OR13C5 138799 broad.mit.edu 37 9 107361685 107361685 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:107361685C>T uc011lvp.2 - 0 10 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GTGTGGTTTTCCCATTCCATT 0.363000 41 25 0 0 0.00127121 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7671263 7671263 + Missense_Mutation SNP T A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:7671263T>A uc002mgu.4 + 2 610 c.509T>A c.(508-510)cTt>cAt p.L170H CAMSAP3_uc002mgv.4_Missense_Mutation_p.L170H NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 170 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CACAAGCTGCTTTTCTGGGTG 0.627000 55 11 0 0 0.00136819 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42285056 42285056 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:42285056G>A uc021sjp.1 - 12 1349 c.1349C>T c.(1348-1350)tCc>tTc p.S450F PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.S74F NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 438 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGGAACAGGGAGGGTAGCTT 0.562000 31 11 0 0 0.000978159 0 0 DMBT1 1755 broad.mit.edu 37 10 124402817 124402817 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:124402817C>T uc001lgk.1 + 52 7251 c.7145C>T c.(7144-7146)tCg>tTg p.S2382L DMBT1_uc001lgl.1_Missense_Mutation_p.S2372L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1754L|DMBT1_uc021qaf.1_Missense_Mutation_p.S2382L|DMBT1_uc021qag.1_Missense_Mutation_p.S2372L|DMBT1_uc021qah.1_Missense_Mutation_p.S1754L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2381L|DMBT1_uc010qtx.1_Missense_Mutation_p.S1102L|DMBT1_uc009yab.1_Missense_Mutation_p.S1085L|DMBT1_uc009yac.1_Missense_Mutation_p.S676L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2382 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) GTGTTGAGGTCGAAGAGGGAT 0.607000 70 22 0 0 0.00047179 0 0 NAALADL2 254827 broad.mit.edu 37 3 175520981 175520981 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:175520981G>A uc003fit.3 + 13 2465 c.2378G>A c.(2377-2379)gGg>gAg p.G793E NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 793 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GTCTTGGATGGGAAGAATTGA 0.378000 37 20 0 0 0.000958276 0 0 MORN1 79906 broad.mit.edu 37 1 2290117 2290117 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:2290117G>A uc001ajb.1 - 8 804 c.783C>T c.(781-783)gtC>gtT p.V261V MORN1_uc009vld.3_Silent_p.V237V|MORN1_uc001ajd.1_Silent_p.V261V NM_024848 NP_079124 Q5T089 MORN1_HUMAN Homo sapiens MORN repeat containing 1 (MORN1), mRNA. 261 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) GCACGTATCTGACGCCCGCTG 0.587000 18 7 0 0 0.00198382 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204433138 204433138 + Splice_Site SNP A C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:204433138A>C uc001haw.3 - 6 1789 c.1310_splice c.e6+1 p.N437_splice PIK3C2B_uc010pqv.2_Splice_Site_p.N437_splice|PIK3C2B_uc001hax.1_Splice_Site_p.N437_splice|PIK3C2B_uc009xbd.1_Splice_Site NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 437 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CCATTCACTCACTTCTGCAGG 0.582000 79 22 0 0 0.00047179 0 0 SYT9 143425 broad.mit.edu 37 11 7324553 7324553 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:7324553G>A uc001mfe.3 + 1 666 c.429G>A c.(427-429)ggG>ggA p.G143G SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 143 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.G143E(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CCCAGACGGGGATCCAGGAGA 0.597000 10 8 0 0 0.000157383 0 0 VEGFA 7422 broad.mit.edu 37 6 43749694 43749694 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:43749694C>T uc003owh.3 + 7 1584 c.1086_splice c.e7-1 p.H362_splice VEGFA_uc003owd.3_Splice_Site_p.N321_splice|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Splice_Site_p.V345_splice|VEGFA_uc003owg.3_Splice_Site_p.R339_splice|VEGFA_uc003owe.3_Splice_Site_p.N321_splice|VEGFA_uc021yzu.1_Intron|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Splice_Site_p.N321_splice|VEGFA_uc003owk.3_Intron NM_001171623 NP_001165094 P15692 VEGFA_HUMAN Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA. 182 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) TTTTTGCAGTCCCTGTGGGCC 0.483000 39 16 0 0 0.00074312 0 0 LMNB2 84823 broad.mit.edu 37 19 2456692 2456692 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:2456692C>T uc002lvy.3 - 0 267 c.180G>A c.(178-180)gaG>gaA p.E60E NM_032737 NP_116126 Q03252 LMNB2_HUMAN Homo sapiens lamin B2 (LMNB2), mRNA. 60 Coil 1A.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCTCCTTCTCTGAGATCT 0.741000 25 6 0 0 0.00116845 0 0 MLL2 8085 broad.mit.edu 37 12 49445649 49445649 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:49445649G>A uc001rta.4 - 9 1817 c.1817C>T c.(1816-1818)tCt>tTt p.S606F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 606 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-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 GGACAGAGGAGACTCTTCAAA 0.607000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 65 20 0 0 0.00121646 0 0 ZNF683 257101 broad.mit.edu 37 1 26694985 26694985 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:26694985G>A uc001bmg.1 - 1 196 c.78C>T c.(76-78)tcC>tcT p.S26S ZNF683_uc001bmh.1_Silent_p.S26S|ZNF683_uc009vsj.1_Silent_p.S26S NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) CCAGGCTGGGGGACAGGGAGC 0.537000 85 33 0 0 0.00283554 0 0 FBXL5 26234 broad.mit.edu 37 4 15614011 15614012 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:15614011_15614012GG>AA uc003goc.2 - 9 2001_2002 c.1876_1877CC>TT c.(1876-1878)cct>TTt p.P626F FBXL5_uc010idw.2_Missense_Mutation_p.P539F|FBXL5_uc003gob.2_Missense_Mutation_p.P488F|FBXL5_uc010idx.2_Missense_Mutation_p.P625F|FBXL5_uc003god.2_Missense_Mutation_p.P609F|FBXL5_uc010idy.2_Missense_Mutation_p.P626F NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA. 626 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis SCF ubiquitin ligase complex|perinuclear region of cytoplasm iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CTCCAAATAAGGCAGCCCTCCT 0.386000 37 16 0 0 6.4e-05 0 0 FGL2 10875 broad.mit.edu 37 7 76828570 76828570 + Missense_Mutation SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:76828570T>C uc003ugb.3 - 0 581 c.541A>G c.(541-543)Aca>Gca p.T181A CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN Homo sapiens fibrinogen-like 2 (FGL2), mRNA. 181 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 ACAACAAATGTTAGATTTGCC 0.358000 71 24 0 0 0.00278032 0 0 GOLGA4 2803 broad.mit.edu 37 3 37366132 37366132 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:37366132G>A uc003cgv.3 + 13 3115 c.2755G>A c.(2755-2757)Gga>Aga p.G919R GOLGA4_uc010hgr.2_Missense_Mutation_p.G480R|GOLGA4_uc003cgw.3_Missense_Mutation_p.G941R|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.G800R NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 919 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AATGAGAGAAGGACAGAAGAA 0.343000 47 15 0 0 0.000308642 0 0 KRBA1 84626 broad.mit.edu 37 7 149430494 149430494 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:149430494C>T uc003wfz.3 + 17 2847 c.2448C>T c.(2446-2448)ctC>ctT p.L816L KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.L424L NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 817 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGATCGGCTCGCCACAGCGC 0.692000 13 7 0 0 0.00198382 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757098 56757098 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:56757098C>T uc010rjp.2 + 0 710 c.710C>T c.(709-711)tCc>tTc p.S237F NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AGGAAAAAATCCTTCTCAACA 0.418000 84 28 0 0 0.00106085 0 0 ABCA13 154664 broad.mit.edu 37 7 48312792 48312792 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:48312792C>T uc003toq.2 + 16 3553 c.3529C>T c.(3529-3531)Cat>Tat p.H1177Y ABCA13_uc010kyr.2_Missense_Mutation_p.H680Y|ABCA13_uc022acp.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1177 transport integral to membrane ATP binding|ATPase activity p.L1176P(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 ATCTCTTCATCATGGTTTCAC 0.378000 57 27 0 0 0.000586117 0 0 ODZ1 10178 broad.mit.edu 37 X 123805602 123805602 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:123805602C>T uc010nqy.3 - 5 1163 c.1099G>A c.(1099-1101)Ggg>Agg p.G367R ODZ1_uc011muj.2_Missense_Mutation_p.G366R|ODZ1_uc004euj.3_Missense_Mutation_p.G367R NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 367 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GACTCGGTCCCCCTGTTCCCT 0.438000 52 61 0 0 0.000781405 0 0 TMEM104 54868 broad.mit.edu 37 17 72832595 72832595 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:72832595C>T uc002jls.4 + 9 1422 c.1260C>T c.(1258-1260)tcC>tcT p.S420S TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.S420S NM_017728 NP_060198 Q8NE00 TM104_HUMAN Homo sapiens transmembrane protein 104 (TMEM104), mRNA. 420 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) ACCTGGAGTCCCTGGTGGGCA 0.677000 44 6 0 0 0.00116845 0 0 BRE 9577 broad.mit.edu 37 2 28467657 28467657 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:28467657G>A uc002rls.3 + 9 1114 c.862G>A c.(862-864)Gaa>Aaa p.E288K BRE_uc002rlp.1_Missense_Mutation_p.E288K|BRE_uc002rlq.3_Missense_Mutation_p.E288K|BRE_uc002rlr.3_Missense_Mutation_p.E288K|BRE_uc002rlt.3_Missense_Mutation_p.E288K|BRE_uc002rlu.3_Missense_Mutation_p.E288K|BRE_uc002rlv.3_Missense_Mutation_p.E150K NM_004899 NP_004890 Q9NXR7 BRE_HUMAN Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA. 288 UEV-like 2. G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) AGGTGTCGTGGAATATGATGC 0.333000 61 34 0 0 0.00111076 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303501 5303501 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:5303501C>T uc003jdl.3 + 18 3048 c.2910C>T c.(2908-2910)tgC>tgT p.C970C ADAMTS16_uc003jdk.1_Silent_p.C970C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 970 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCAGCCTGTGCCCTCAGCCTG 0.706000 17 6 0 0 0.00116845 0 0 TTC23 64927 broad.mit.edu 37 15 99678314 99678314 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:99678314C>T uc002bur.3 - 12 1776 c.1245G>A c.(1243-1245)tcG>tcA p.S415S TTC23_uc002bus.3_Silent_p.S415S|TTC23_uc002but.3_Silent_p.S415S|TTC23_uc002buu.3_Silent_p.S415S|TTC23_uc002buv.3_Silent_p.S415S|TTC23_uc002bux.3_Silent_p.S415S|TTC23_uc002buw.3_Silent_p.S415S|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.S415S|TTC23_uc010bor.3_Silent_p.S415S NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA. 415 binding endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GCCTTGGCTTCGAAGCAACCT 0.642000 49 11 0 0 0.000673444 0 0 MYO7A 4647 broad.mit.edu 37 11 76903100 76903100 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:76903100C>T uc001oyb.2 + 30 4201 c.3929C>T c.(3928-3930)tCc>tTc p.S1310F MYO7A_uc010rsm.1_Missense_Mutation_p.S1299F|MYO7A_uc001oyc.2_Missense_Mutation_p.S1310F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.S521F NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1310 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCACAGGTGTCCTCCCTGGGC 0.652000 OREG0021258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 12 0 0 0.000978159 0 0 MATN2 4147 broad.mit.edu 37 8 98973703 98973703 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:98973703C>T uc003yic.3 + 4 1134 c.903C>T c.(901-903)ttC>ttT p.F301F MATN2_uc003yib.1_Silent_p.F301F|MATN2_uc010mbh.1_Silent_p.F301F|MATN2_uc003yid.3_Silent_p.F301F|MATN2_uc003yie.1_Silent_p.F301F|MATN2_uc010mbi.1_Intron NM_002380 NP_002371 O00339 MATN2_HUMAN Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA. 301 EGF-like 2. proteinaceous extracellular matrix calcium ion binding p.F301L(3) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CGGGCTCCTTCGTCTGCCAGT 0.557000 73 16 0 0 0.000422831 0 0 SLC2A3 6515 broad.mit.edu 37 12 8085617 8085617 + Missense_Mutation SNP A T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:8085617A>T uc001qtr.3 - 2 497 c.235T>A c.(235-237)Ttt>Att p.F79I NM_006931 NP_008862 P11169 GTR3_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA. 79 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CCGACGGAAAAGGAGCCGATC 0.542000 OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 22 0 0 0.00229938 0 0 HYAL4 23553 broad.mit.edu 37 7 123514836 123514836 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:123514836G>A uc003vlc.3 + 3 1614 c.976G>A c.(976-978)Gga>Aga p.G326R HYAL4_uc011knz.2_Missense_Mutation_p.G326R NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 326 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CAGCACCATAGGAGAAAGTGC 0.438000 62 13 0 0 0.00185496 0 0 PSG9 5678 broad.mit.edu 37 19 43763161 43763161 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:43763161C>T uc002owd.4 - 3 935 c.836G>A c.(835-837)aGc>aAc p.S279N PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.S186N|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 279 Ig-like C2-type 2. female pregnancy extracellular region p.S279R(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GACGGGGAGGCTCTGACCGTT 0.463000 222 74 0 0 0.000781405 0 0 MFSD12 126321 broad.mit.edu 37 19 3546112 3546112 + Missense_Mutation SNP C G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:3546112C>G uc002lxw.3 - 7 1419 c.1249G>C c.(1249-1251)Ggg>Cgg p.G417R MFSD12_uc002lxx.3_Missense_Mutation_p.G417R|MFSD12_uc002lxy.3_Missense_Mutation_p.G408R|MFSD12_uc002lxz.3_Missense_Mutation_p.G417R NM_021731 NP_068377 Q6NUT3 CS028_HUMAN Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA. 417 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 ACTGCCAGCCCATTGGCCACC 0.572000 66 23 0 0 0.00278032 0 0 SEMA3G 56920 broad.mit.edu 37 3 52474028 52474028 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:52474028G>A uc003dea.1 - 10 1230 c.1230C>T c.(1228-1230)gcC>gcT p.A410A NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 410 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TGAGGGGGTGGGCTCGGGCAA 0.647000 82 27 0 0 0.001512 0 0 TAB1 10454 broad.mit.edu 37 22 39770497 39770497 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:39770497C>T uc003axq.4 + 1 338 c.276C>T c.(274-276)ttC>ttT p.F92F TAB1_uc003axo.4_Silent_p.F92F|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.F93F NM_004711 NP_004702 Q15750 TAB1_HUMAN Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA. 0 PP2C-like. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 ACGTGTACTTCCCGCAGATCA 0.637000 59 25 0 0 0.000586117 0 0 PDC 5132 broad.mit.edu 37 1 186413597 186413597 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:186413597C>T uc001gsa.3 - 3 328 c.255G>A c.(253-255)gaG>gaA p.E85E MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Silent_p.E33E NM_002597 NP_072098 P20941 PHOS_HUMAN Homo sapiens phosducin (PDC), transcript variant 1, mRNA. 85 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) AGTTTTCATCCTCTTTCTCTT 0.358000 47 12 0 0 0.000978159 0 0 PRR14 78994 broad.mit.edu 37 16 30666149 30666149 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:30666149C>T uc002dyy.3 + 7 1116 c.858C>T c.(856-858)atC>atT p.I286I PRR14_uc002dyz.3_Silent_p.I131I|PRR14_uc002dza.3_Silent_p.I286I|PRR14_uc002dzb.1_Silent_p.I100I NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 286 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) AGTTGAAGATCGCCATCTCAG 0.632000 17 11 0 0 0.000673444 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884007 228884007 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:228884007C>T uc002vpq.2 - 6 1610 c.1563G>A c.(1561-1563)atG>atA p.M521I SPHKAP_uc002vpp.2_Missense_Mutation_p.M521I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M521I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 521 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCACTTGCTCCATTTTGAGTC 0.517000 46 12 0 0 0.00136819 0 0 TTN 7273 broad.mit.edu 37 2 179656915 179656915 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:179656915C>T uc021vsy.1 - 9 1771 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K TTN_uc021vsz.1_Missense_Mutation_p.E516K|TTN_uc021vta.1_Missense_Mutation_p.E516K|TTN_uc021vtb.1_Missense_Mutation_p.E516K|TTN_uc002unb.2_Missense_Mutation_p.E516K|TTN_uc010frg.1_Missense_Mutation_p.E190K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 516 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) TTTTCAGTTTCTTTTCTTATC 0.279000 39 11 0 0 0.000978159 0 0 LAMA3 3909 broad.mit.edu 37 18 21438687 21438687 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:21438687G>A uc002kuq.3 + 33 4402 c.4316G>A c.(4315-4317)cGa>cAa p.R1439Q LAMA3_uc002kur.3_Missense_Mutation_p.R1439Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1439 Domain III B.|Laminin EGF-like 12. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AATGTGTGTCGAGAAGGCTCA 0.408000 80 30 0 0 0.00283554 0 0 LOC646214 646214 broad.mit.edu 37 15 21937625 21937625 + RNA SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:21937625C>T uc010tzj.1 - 0 c.3115G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TCGTCCTCCTCCTCTGTCACT 0.498000 95 10 0 0 0.000442599 0 0 XIRP2 129446 broad.mit.edu 37 2 167992545 167992545 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:167992545G>A uc002udx.3 + 2 624 c.535G>A c.(535-537)Gaa>Aaa p.E179K XIRP2_uc010fpn.3_Missense_Mutation_p.E179K|XIRP2_uc010fpo.3_Missense_Mutation_p.E179K|XIRP2_uc002udy.3_Missense_Mutation_p.E4K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 4 actin cytoskeleton organization cell junction actin binding p.P178H(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGTCACCTGAAAGTGGTCA 0.403000 73 20 0 0 0.00229938 0 0 PLXNA4 91584 broad.mit.edu 37 7 131925877 131925877 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:131925877C>T uc003vra.4 - 4 1781 c.1552G>A c.(1552-1554)Gag>Aag p.E518K NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 518 PSI 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCAAGGCACTCGCCGCAGCTC 0.597000 49 15 0 0 0.000422831 0 0 TULP4 56995 broad.mit.edu 37 6 158923521 158923521 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:158923521C>T uc003qrf.3 + 12 4183 c.2826C>T c.(2824-2826)acC>acT p.T942T TULP4_uc003qrg.3_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 942 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCAGTGCCACCCTGAACCGCC 0.687000 41 21 0 0 0.00152264 0 0 NELL1 4745 broad.mit.edu 37 11 20949958 20949958 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:20949958C>T uc009yid.3 + 9 1167 c.1014C>T c.(1012-1014)ccC>ccT p.P338P NELL1_uc010rdp.2_Silent_p.P70P|NELL1_uc001mqe.3_Silent_p.P310P|NELL1_uc001mqf.3_Silent_p.P310P|NELL1_uc010rdo.2_Silent_p.P253P NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 310 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGTCCTGTCCCCCTCTCAATT 0.532000 52 12 0 0 0.00244969 0 0 DUSP8 1850 broad.mit.edu 37 11 1578765 1578765 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:1578765G>A uc001lts.2 - 6 989 c.861C>T c.(859-861)ttC>ttT p.F287F MOB2_uc001ltq.2_Intron NM_004420 NP_004411 Q13202 DUS8_HUMAN Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA. 287 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) CCAGGAAGTTGAAGTTGGGCG 0.726000 17 4 0 0 0.000602214 0 0 OR2M5 127059 broad.mit.edu 37 1 248308467 248308467 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:248308467G>A uc010pze.2 + 0 18 c.18G>A c.(16-18)caG>caA p.Q6Q NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GGGAGAATCAGACCTTCAACT 0.428000 241 67 0 0 0.000781405 0 0 ZNF155 7711 broad.mit.edu 37 19 44500360 44500360 + Silent SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:44500360T>C uc010xwt.1 + 5 568 c.384T>C c.(382-384)tcT>tcC p.S128S ZNF155_uc002oxy.1_Silent_p.S117S|ZNF155_uc002oxz.1_Silent_p.S117S NM_198089 NP_932355 Q12901 ZN155_HUMAN Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA. 117 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) CTCAGGACTCTATCATAAATA 0.468000 79 9 0 0 0.000442599 0 0 ASTN1 460 broad.mit.edu 37 1 177001974 177001974 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:177001974G>A uc001glc.3 - 2 695 c.483C>T c.(481-483)atC>atT p.I161I ASTN1_uc001glb.1_Silent_p.I161I|ASTN1_uc001gld.1_Silent_p.I161I|ASTN1_uc009wwx.1_Silent_p.I161I|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 161 cell migration|neuron cell-cell adhesion integral to membrane p.M160T(1) 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 GCAGCAGAGCGATCATGCCAC 0.582000 44 18 0 0 0.00152264 0 0 TRIM28 10155 broad.mit.edu 37 19 59060795 59060795 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:59060795C>T uc002qtg.1 + 12 2049 c.1760C>T c.(1759-1761)gCt>gTt p.A587V TRIM28_uc010eut.1_Missense_Mutation_p.A505V|TRIM28_uc002qth.1_Missense_Mutation_p.A202V NM_005762 NP_005753 Q13263 TIF1B_HUMAN Homo sapiens tripartite motif containing 28 (TRIM28), mRNA. 587 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GGTCCTGGTGCTGAGGGTCCC 0.667000 91 26 0 0 0.00127121 0 0 KALRN 8997 broad.mit.edu 37 3 124103806 124103806 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:124103806C>T uc003ehg.3 + 10 2006 c.1879C>T c.(1879-1881)Caa>Taa p.Q627* KALRN_uc010hrv.1_Nonsense_Mutation_p.Q627*|KALRN_uc003ehf.1_Nonsense_Mutation_p.Q627*|KALRN_uc011bjy.1_Nonsense_Mutation_p.Q627*|KALRN_uc003ehh.1_5'UTR NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 627 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGTGCGCATCCAAGACTTCGT 0.577000 41 17 0 0 0.000566183 0 0 MLLT10 8028 broad.mit.edu 37 10 22029049 22029050 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:22029049_22029050CC>TT uc021pny.1 + 20 3046_3047 c.3046_3047CC>TT c.(3046-3048)cca>TTa p.P1016L MLLT10_uc001iqs.3_Intron|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.P1016L|MLLT10_uc001ira.3_Missense_Mutation_p.P473L|MLLT10_uc001irb.3_Non-coding_Transcript NM_001195626 NP_001182555 P55197 AF10_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA. 0 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GATCCCTGGACCAACACAAATA 0.475000 T """MLL, PICALM, CDK6""" AL 40 18 0 0 6.4e-05 0 0 SDK2 54549 broad.mit.edu 37 17 71395316 71395316 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:71395316C>T uc010dfm.3 - 21 3084 c.3084G>A c.(3082-3084)gtG>gtA p.V1028V SDK2_uc002jjt.4_Silent_p.V187V|SDK2_uc010dfn.2_Silent_p.V707V NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1028 Fibronectin type-III 5. cell adhesion integral to membrane 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 CCTGGGCTTCCACCAGCCAGC 0.627000 40 15 0 0 0.00074312 0 0 PADI3 51702 broad.mit.edu 37 1 17609436 17609436 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:17609436C>T uc001bai.3 + 15 1897 c.1857C>T c.(1855-1857)tcC>tcT p.S619S NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 619 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGTGCGGTCCCTGCTGGAGC 0.597000 29 9 0 0 0.000274275 0 0 REXO1L1 254958 broad.mit.edu 37 8 86567378 86567378 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:86567378C>T uc003ydl.1 - 0 528 c.441G>A c.(439-441)ttG>ttA p.L147L NM_172239 NP_758439 Q8IX06 GOR_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA. 504 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 TCTCACAGTCCAAGGCGTAGA 0.602000 130 6 0 0 0.000274275 0 0 DNMT3B 1789 broad.mit.edu 37 20 31389145 31389145 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:31389145G>A uc002wyc.3 + 18 2379 c.2058G>A c.(2056-2058)gaG>gaA p.E686E DNMT3B_uc002wyd.3_Silent_p.E666E|DNMT3B_uc002wye.3_Silent_p.E666E|DNMT3B_uc010ztz.2_Silent_p.E624E|DNMT3B_uc010zua.2_Silent_p.E590E|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.E678E|DNMT3B_uc002wyg.3_Silent_p.E385E|DNMT3B_uc010geg.3_5'UTR|DNMT3B_uc010geh.3_Non-coding_Transcript NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 686 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCCCCAAGGAGGGTGATGACC 0.517000 55 22 0 0 0.00188189 0 0 COL28A1 340267 broad.mit.edu 37 7 7546791 7546791 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:7546791C>T uc003src.1 - 10 1045 c.928_splice c.e10-1 p.G310_splice COL28A1_uc011jxe.1_Splice_Site|COL28A1_uc003srd.3_Splice_Site NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 310 Collagen-like 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity p.G310E(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCCTGGGGATCCCTGTGGAAT 0.408000 101 29 0 0 0.00178596 0 0 CRTAP 10491 broad.mit.edu 37 3 33171484 33171484 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:33171484C>T uc003cfl.4 + 3 967 c.847C>T c.(847-849)Cca>Tca p.P283S CRTAP_uc010hfz.3_Intron|CRTAP_uc003cfn.3_Missense_Mutation_p.P104S NM_006371 NP_006362 O75718 CRTAP_HUMAN Homo sapiens cartilage associated protein (CRTAP), mRNA. 283 proteinaceous extracellular matrix binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 GAACCTCACCCCAGTTATAGG 0.368000 82 24 0 0 0.000720815 0 0 PCLO 27445 broad.mit.edu 37 7 82430905 82430905 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:82430905C>T uc003uhx.2 - 21 15225 c.14936G>A c.(14935-14937)gGg>gAg p.G4979E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4902 C2 2. 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 TCCCATCTTCCCTCTGTTTAG 0.338000 54 20 0 0 0.00188189 0 0 RHBDF2 79651 broad.mit.edu 37 17 74473809 74473809 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:74473809G>A uc002jrq.2 - 6 1112 c.818C>T c.(817-819)gCc>gTc p.A273V RHBDF2_uc021udh.1_Missense_Mutation_p.A244V|RHBDF2_uc002jrr.1_Missense_Mutation_p.A125V|RHBDF2_uc010wtf.1_Missense_Mutation_p.A244V|RHBDF2_uc002jrs.1_Missense_Mutation_p.A268V NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA. 273 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GCTCGGGAAGGCAAAGCTGCG 0.622000 80 31 0 0 0.00058488 0 0 DNAH5 1767 broad.mit.edu 37 5 13885338 13885338 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:13885338C>T uc003jfd.2 - 19 2786 c.2744_splice c.e19-1 p.A915_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 915 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) TCTCTTTTTGCTGTTACAAGA 0.373000 Kartagener syndrome 33 13 0 0 0.00185496 0 0 CASP8 841 broad.mit.edu 37 2 202131505 202131505 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:202131505C>T uc002uxr.1 + 2 505 c.296C>T c.(295-297)tCt>tTt p.S99F CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc021vuy.1_Missense_Mutation_p.S99F|CASP8_uc021vuz.1_Missense_Mutation_p.S99F|CASP8_uc021vva.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 99 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 GCTCAAATTTCTGCCTACAGG 0.493000 HNSCC(4;0.00038) 32 13 0 0 0.00185496 0 0 ABCB1 5243 broad.mit.edu 37 7 87214929 87214930 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:87214929_87214930CC>TT uc003uiz.2 - 4 677_678 c.184_185GG>AA c.(184-186)ggg>AAg p.G62K ABCB1_uc011khc.2_Missense_Mutation_p.G62K NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 62 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.G62R(2) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AAGTCCAGCCCCATGGATGATG 0.391000 53 15 0 0 6.4e-05 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43568681 43568681 + Nonsense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:43568681G>A uc002lbp.4 - 13 1096 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* PSTPIP2_uc002lbq.4_Silent_p.I301I NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 334 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TGATTTTACTGATAGAGCAAA 0.323000 63 24 0 0 0.000878237 0 0 IL37 27178 broad.mit.edu 37 2 113675270 113675270 + Silent SNP G A A rs150018952 by1000genomes TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:113675270G>A uc002tij.3 + 3 366 c.324G>A c.(322-324)ccG>ccA p.P108P IL37_uc002tim.3_Silent_p.P47P|IL37_uc002tik.3_Silent_p.P87P|IL37_uc002til.3_Silent_p.P68P|IL37_uc002tin.3_Silent_p.P82P NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 108 P -> L (in dbSNP:rs2723187). immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 AAGGAAGTCCGATTCTCCTGG 0.483000 162 56 0 0 0.000781405 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:155887393T>G uc001fmi.1 - 10 1361 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN Homo sapiens KIAA0907 (KIAA0907), mRNA. 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 38 8 0 0 0.00136819 0 0 ZNF710 374655 broad.mit.edu 37 15 90611734 90611734 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:90611734C>T uc002bov.2 + 1 1488 c.1365C>T c.(1363-1365)ctC>ctT p.L455L NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN Homo sapiens zinc finger protein 710 (ZNF710), mRNA. 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) ACCACATGCTCAAGCACCAGA 0.597000 69 23 0 0 0.000586117 0 0 AKAP3 10566 broad.mit.edu 37 12 4737889 4737889 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:4737889C>T uc001qnb.4 - 3 423 c.179G>A c.(178-180)cGg>cAg p.R60Q NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 60 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GGGTTTGAACCGAACATCTTG 0.502000 51 16 0 0 0.000308642 0 0 ANGEL1 23357 broad.mit.edu 37 14 77275455 77275455 + Missense_Mutation SNP G A A rs143581712 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:77275455G>A uc001xsv.3 - 1 709 c.596C>T c.(595-597)cCc>cTc p.P199L NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA. 199 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GCCCTCAAAGGGCCAGATGGA 0.602000 27 5 0 0 0.00116845 0 0 SLC6A18 348932 broad.mit.edu 37 5 1243795 1243795 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:1243795C>T uc003jby.2 + 8 1380 c.1257C>T c.(1255-1257)ttC>ttT p.F419F NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 419 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGACCATGTTCGGGACCGTGG 0.652000 67 23 0 0 0.00229938 0 0 STARD13 90627 broad.mit.edu 37 13 33739502 33739502 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr13:33739502C>T uc001uuw.3 - 2 421 c.295G>A c.(295-297)Gaa>Aaa p.E99K STARD13_uc001uuu.3_Missense_Mutation_p.E91K|STARD13_uc001uuv.3_5'UTR|STARD13_uc001uux.3_Missense_Mutation_p.E64K|STARD13_uc010abh.1_Missense_Mutation_p.E84K|STARD13_uc021rhz.1_Missense_Mutation_p.E91K|STARD13_uc021ria.1_5'UTR NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 99 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGGTCCTTTTCAAGAAAATCA 0.378000 64 21 0 0 0.00188189 0 0 OR2H1 26716 broad.mit.edu 37 6 29430419 29430419 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:29430419G>A uc003nmi.3 + 2 1316 c.873G>A c.(871-873)agG>agA p.R291R OR2H1_uc003nmj.1_Silent_p.R291R|OR2H1_uc010jri.2_Silent_p.R213R|OR2H1_uc021ytr.1_Silent_p.R291R NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 ACACCCTGAGGAACAAGGAGA 0.483000 61 14 0 0 0.000308642 0 0 TRMT11 60487 broad.mit.edu 37 6 126359912 126359912 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:126359912C>T uc003qam.3 + 12 1443 c.1322C>T c.(1321-1323)tCc>tTc p.S441F TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Missense_Mutation_p.S436F NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA. 441 tRNA processing methyltransferase activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) GGTCATAATTCCTTCCGTGAG 0.333000 104 32 0 0 0.00209593 0 0 VPS13D 55187 broad.mit.edu 37 1 12438576 12438576 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:12438576C>T uc001atv.3 + 55 11153 c.11012C>T c.(11011-11013)tCa>tTa p.S3671L VPS13D_uc001atw.3_Missense_Mutation_p.S3646L|VPS13D_uc001atx.3_Missense_Mutation_p.S2858L|VPS13D_uc009vnl.3_Non-coding_Transcript NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3670 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AATAAGCCCTCAGCCGCCCGC 0.522000 46 14 0 0 0.00244969 0 0 GDF3 9573 broad.mit.edu 37 12 7843004 7843004 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:7843004C>T uc001qte.3 - 1 601 c.565G>A c.(565-567)Gat>Aat p.D189N NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 189 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity p.K188N(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TCATTCCAATCCTTAGCTACA 0.498000 93 29 0 0 0.00178596 0 0 TLR8 51311 broad.mit.edu 37 X 12937885 12937885 + Missense_Mutation SNP C A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:12937885C>A uc004cvd.3 + 2 950 c.780C>A c.(778-780)ttC>ttA p.F260L TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.F242L NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 242 I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAGAAGATTTCAAGGGATTGA 0.433000 22 21 1.87028e-06 8.65513e-06 0.00188189 1 0 AIFM2 84883 broad.mit.edu 37 10 71880966 71880966 + Splice_Site SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:71880966G>A uc010qjg.2 - 3 311 c.295_splice c.e3-1 p.A99_splice AIFM2_uc021psi.1_Splice_Site_p.A99_splice|AIFM2_uc001jqp.2_Splice_Site_p.A99_splice NM_001198696 NP_001185625 Q9BRQ8 AIFM2_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA. 99 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 GAAGGGCAGGGCCTGAGAGAA 0.537000 25 4 0 0 0.00024832 0 0 GNAS 2778 broad.mit.edu 37 20 57484420 57484420 + Missense_Mutation SNP C T T rs11554273 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:57484420C>T uc002xzw.3 + 7 2815 c.2530C>T c.(2530-2532)Cgt>Tgt p.R844C GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R169C|GNAS_uc010gjq.3_Missense_Mutation_p.R142C|GNAS_uc002xzx.3_Missense_Mutation_p.R142C|GNAS_uc021wfn.1_Missense_Mutation_p.R201C|GNAS_uc021wfo.1_Missense_Mutation_p.R202C|GNAS_uc002yaa.3_Missense_Mutation_p.R186C|GNAS_uc021wfp.1_Missense_Mutation_p.R187C|GNAS_uc002yad.3_Missense_Mutation_p.R92C|GNAS_uc002yae.3_Missense_Mutation_p.R126C NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 201 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201C(228)|p.R844C(9)|p.R201S(5) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTTCGCTGCCGTGTCCTGAC 0.428000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 72 20 0 0 0.00278032 0 0 PCDH15 65217 broad.mit.edu 37 10 55755466 55755466 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:55755466C>T uc010qhy.1 - 21 3221 c.2826G>A c.(2824-2826)ccG>ccA p.P942P PCDH15_uc010qhq.2_Silent_p.P942P|PCDH15_uc010qhr.2_Silent_p.P937P|PCDH15_uc021pqv.1_Silent_p.P937P|PCDH15_uc021pqw.1_Silent_p.P949P|PCDH15_uc010qht.2_Silent_p.P944P|PCDH15_uc021pqx.1_Silent_p.P937P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P937P|PCDH15_uc021pqz.1_Silent_p.P915P|PCDH15_uc010qhv.1_Silent_p.P937P|PCDH15_uc010qhw.1_Silent_p.P900P|PCDH15_uc010qhx.1_Silent_p.P866P|PCDH15_uc010qhz.1_Silent_p.P937P|PCDH15_uc010qia.1_Silent_p.P915P|PCDH15_uc001jju.1_Silent_p.P937P|PCDH15_uc010qib.1_Silent_p.P915P|PCDH15_uc001jjw.3_Silent_p.P937P NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 937 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 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) TGACTGCATCCGGAGCCACCA 0.393000 HNSCC(58;0.16) 52 21 0 0 0.00152264 0 0 DNAH7 56171 broad.mit.edu 37 2 196774837 196774837 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:196774837C>T uc002utj.4 - 24 4119 c.4018G>A c.(4018-4020)Gat>Aat p.D1340N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1340 AAA 1 (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 TTTGCCAAATCCTTGGTAGTT 0.423000 30 8 0 0 0.000157383 0 0 SERTM1 400120 broad.mit.edu 37 13 37269359 37269359 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr13:37269359C>T uc001uvt.4 + 1 590 c.144C>T c.(142-144)ttC>ttT p.F48F SERTM1_uc021rii.1_Silent_p.F48F NM_203451 NP_982276 A2A2V5 CM036_HUMAN Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA. 48 integral to membrane TGTCCATATTCCTCAGCCTTT 0.478000 170 42 0 0 0.0025221 0 0 DNAH5 1767 broad.mit.edu 37 5 13885212 13885212 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:13885212C>T uc003jfd.2 - 18 2911 c.2869G>A c.(2869-2871)Gag>Aag p.E957K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 957 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E957*(2)|p.R956R(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) GAGAGTAACTCGCGGGCTTCT 0.448000 Kartagener syndrome 69 29 0 0 0.00106085 0 0 CD48 962 broad.mit.edu 37 1 160651006 160651006 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:160651006G>A uc001fwo.1 - 2 670 c.638C>T c.(637-639)cCa>cTa p.P213L CD48_uc001fwn.3_Missense_Mutation_p.P213L NM_001778 NP_001769 P09326 CD48_HUMAN Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA. 213 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGTACAGGGTGGACTGAGGCA 0.517000 54 22 0 0 0.00047179 0 0 STT3B 201595 broad.mit.edu 37 3 31670893 31670893 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:31670893G>A uc011axe.2 + 13 2177 c.2177G>A c.(2176-2178)gGa>gAa p.G726E NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA. 726 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TACAGATTTGGAGAAATGCAG 0.323000 33 6 0 0 0.00198382 0 0 ANK3 288 broad.mit.edu 37 10 61830618 61830618 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:61830618C>T uc001jky.3 - 36 10359 c.10021G>A c.(10021-10023)Gat>Aat p.D3341N ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3341 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.D3341Y(2) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTGTTCATCGTCCACTTCC 0.408000 111 43 0 0 0.0025221 0 0 PER2 8864 broad.mit.edu 37 2 239161888 239161888 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:239161888G>A uc002vyc.3 - 18 3013 c.2776C>T c.(2776-2778)Ccc>Tcc p.P926S PER2_uc010znv.1_Missense_Mutation_p.P926S NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 926 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGCTGGCTGGGGAAGAAGGCC 0.637000 68 25 0 0 0.00278032 0 0 ABHD11 83451 broad.mit.edu 37 7 73151395 73151395 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:73151395C>T uc003tzb.3 - 4 742 c.679G>A c.(679-681)Gac>Aac p.D227N ABHD11_uc003tza.3_Missense_Mutation_p.D114N|ABHD11_uc011kfb.2_Missense_Mutation_p.D170N|ABHD11_uc003tzc.3_Missense_Mutation_p.D220N NM_148912 NP_683710 Q8NFV4 ABHDB_HUMAN Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 227 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) AAGCGCCCGTCTACCTCTACC 0.622000 58 25 0 0 0.00178596 0 0 PRKCSH 5589 broad.mit.edu 37 19 11559780 11559780 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:11559780C>T uc010xlz.2 + 14 1674 c.1338C>T c.(1336-1338)ctC>ctT p.L446L PRKCSH_uc002mrt.3_Silent_p.L439L|PRKCSH_uc002mru.3_Silent_p.L436L|PRKCSH_uc010dyb.3_Silent_p.L436L NM_002743 NP_002734 P14314 GLU2B_HUMAN Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA. 439 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 AACCCAAACTCGGGGGCTCTC 0.647000 87 23 0 0 0.00106085 0 0 TRAK1 22906 broad.mit.edu 37 3 42244110 42244110 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:42244110C>T uc003cky.3 + 12 1826 c.1610C>T c.(1609-1611)tCc>tTc p.S537F TRAK1_uc011azh.2_Missense_Mutation_p.S537F|TRAK1_uc011azi.2_Missense_Mutation_p.S537F|TRAK1_uc003ckz.4_Missense_Mutation_p.S463F|TRAK1_uc011azj.2_Missense_Mutation_p.S463F|TRAK1_uc003cla.3_Missense_Mutation_p.S479F NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 537 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CGCAGCGGCTCCCTCACACCC 0.632000 65 15 0 0 0.000566183 0 0 NEK10 152110 broad.mit.edu 37 3 27346402 27346402 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:27346402C>T uc003cdt.2 - 12 1138 c.864G>A c.(862-864)aaG>aaA p.K288K NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 288 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCTCATAGAGCTTCACCTGCT 0.547000 29 7 0 0 0.000157383 0 0 PDC 5132 broad.mit.edu 37 1 186413470 186413470 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:186413470C>T uc001gsa.3 - 3 455 c.382G>A c.(382-384)Gaa>Aaa p.E128K MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.E76K NM_002597 NP_072098 P20941 PHOS_HUMAN Homo sapiens phosducin (PDC), transcript variant 1, mRNA. 128 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) AGTTCCTTTTCAATTGTTTCT 0.398000 109 34 0 0 0.000692331 0 0 CHML 1122 broad.mit.edu 37 1 241797947 241797947 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:241797947G>A uc001hzd.3 - 0 1286 c.1122C>T c.(1120-1122)ccC>ccT p.P374P OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA. 374 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) GAAATAAAAAGGGGGTGTTGC 0.413000 59 15 0 0 0.000308642 0 0 COL1A1 1277 broad.mit.edu 37 17 48267720 48267720 + Missense_Mutation SNP G A A rs74315133 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:48267720G>A uc002iqm.3 - 34 2545 c.2419C>T c.(2419-2421)Ccc>Tcc p.P807S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 807 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGGCCGGGGGGACCAGGCTCA 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 63 29 0 0 0.00178596 0 0 ENTPD4 9583 broad.mit.edu 37 8 23299548 23299548 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:23299548G>A uc003xdl.3 - 6 971 c.699C>T c.(697-699)gtC>gtT p.V233V ENTPD4_uc011kzu.1_Silent_p.V233V|ENTPD4_uc003xdm.3_Silent_p.V233V|ENTPD4_uc011kzv.1_Silent_p.V233V NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA. 233 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) ATCGTCCAAGGACAAAATTAA 0.358000 46 14 0 0 0.000422831 0 0 CH25H 9023 broad.mit.edu 37 10 90966606 90966606 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:90966606C>T uc001kfz.3 - 0 466 c.444G>A c.(442-444)aaG>aaA p.K148K NM_003956 NP_003947 O95992 CH25H_HUMAN Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA. 148 bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process cytosol|endoplasmic reticulum membrane|integral to membrane cholesterol 25-hydroxylase activity|iron ion binding kidney(1)|large_intestine(2)|lung(3)|stomach(1) 7 Colorectal(252;0.0161) GBM - Glioblastoma multiforme(2;0.000133) GCCAGGGCACCTTGTGGTGCA 0.582000 75 19 0 0 0.00074312 0 0 CYP2J2 1573 broad.mit.edu 37 1 60370661 60370661 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:60370661G>A uc001czq.3 - 6 1078 c.1073C>T c.(1072-1074)tCc>tTc p.S358F NM_000775 NP_000766 P51589 CP2J2_HUMAN Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA. 358 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GTAGGGCATGGACTCCCGGGC 0.517000 91 30 0 0 0.0024448 0 0 ADAM28 10863 broad.mit.edu 37 8 24192998 24192998 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:24192998G>A uc003xdy.3 + 13 1494 c.1411G>A c.(1411-1413)Gag>Aag p.E471K ADAM28_uc003xdx.3_Missense_Mutation_p.E471K|ADAM28_uc011kzz.2_Missense_Mutation_p.E238K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E158K NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 471 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.D470N(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGCAAAAGATGAGTGCGACCT 0.438000 36 10 0 0 0.000978159 0 0 GK2 2712 broad.mit.edu 37 4 80329214 80329214 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:80329214G>A uc003hlu.3 - 0 159 c.141C>T c.(139-141)ttC>ttT p.F47F NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 47 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTCTTTTGGGAACTCTTGTG 0.438000 99 35 0 0 0.00283554 0 0 SPEG 10290 broad.mit.edu 37 2 220344734 220344735 + Missense_Mutation DNP GA TC TC TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:220344734_220344735GA>TC uc010fwg.3 + 24 5214_5215 c.5214_5215GA>TC c.(5212-5217)cggatc>cgTCtc p.I1739L NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1739 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCAGGTGCGGATCTGTGACTT 0.579000 51 16 0 0 6.4e-05 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347620 38347620 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:38347620G>A uc003cib.2 + 0 176 c.103G>A c.(103-105)Gag>Aag p.E35K SLC22A14_uc010hhc.1_Missense_Mutation_p.E35K|SLC22A14_uc003cia.2_Missense_Mutation_p.E35K|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 35 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTGGTCTCTGGAGATGCTGTT 0.542000 91 28 0 0 0.00178596 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664155 169664155 + RNA SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:169664155G>A uc011bpp.2 - 1 c.3648C>T Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. AGTTGCTACAGGTGAAGCGGT 0.498000 20 11 0 0 0.000978159 0 0 COL4A4 1286 broad.mit.edu 37 2 227945185 227945185 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:227945185C>T uc021vxr.1 - 22 1878 c.1777G>A c.(1777-1779)Gga>Aga p.G593R COL4A4_uc021vxs.1_Missense_Mutation_p.G593R NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 593 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) CCTTTTTCTCCAGCATGTCCA 0.463000 138 37 0 0 0.00170553 0 0 ADAM18 8749 broad.mit.edu 37 8 39502860 39502860 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:39502860C>T uc003xni.3 + 10 968 c.913C>T c.(913-915)Cca>Tca p.P305S ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P281S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 305 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATTTTAGTATCCAGATGCAAT 0.284000 56 16 0 0 0.000566183 0 0 EFR3A 23167 broad.mit.edu 37 8 132996523 132996523 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:132996523C>T uc003yte.3 + 14 1917 c.1713C>T c.(1711-1713)ctC>ctT p.L571L NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 571 plasma membrane binding p.D570H(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTATTGATCTCATTCGACTGG 0.348000 120 37 0 0 0.00128727 0 0 DLL1 28514 broad.mit.edu 37 6 170594737 170594737 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:170594737G>A uc003qxm.3 - 5 1252 c.782C>T c.(781-783)cCa>cTa p.P261L NM_005618 NP_005609 O00548 DLL1_HUMAN Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA. 261 EGF-like 2. Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion extracellular region|integral to plasma membrane Notch binding|calcium ion binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GAGACAGCCTGGATAGCGGAT 0.592000 55 18 0 0 0.000566183 0 0 FCN1 2219 broad.mit.edu 37 9 137803030 137803030 + Missense_Mutation SNP C T T rs140102154 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:137803030C>T uc004cfi.3 - 7 771 c.682G>A c.(682-684)Gag>Aag p.E228K NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 228 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TTCTCTGCCTCGTCAGCCACC 0.547000 187 63 0 0 0.000781405 0 0 CDK5R1 8851 broad.mit.edu 37 17 30815545 30815545 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:30815545C>T uc002hhn.3 + 1 1128 c.907C>T c.(907-909)Cta>Tta p.L303L CDK5R1_uc010wca.1_Silent_p.L303L|CDK5R1_uc021tux.1_Silent_p.L303L|CDK5R1_uc010ctc.3_Silent_p.L67L NM_003885 NP_003876 Q15078 CD5R1_HUMAN Homo sapiens cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1), mRNA. 303 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) GCGGCTCCTCCTAGGCCTGGA 0.473000 72 22 0 0 0.00188189 0 0 PCLO 27445 broad.mit.edu 37 7 82582045 82582045 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:82582045C>T uc003uhx.2 - 4 8513 c.8224G>A c.(8224-8226)Gat>Aat p.D2742N PCLO_uc003uhv.2_Missense_Mutation_p.D2742N|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2673 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 ATACATTTATCAGTTGTTTTA 0.353000 38 16 0 0 0.000422831 0 0 APEX1 328 broad.mit.edu 37 14 20923850 20923850 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:20923850G>A uc001vxg.3 + 1 378 c.46G>A c.(46-48)Gag>Aag p.E16K OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Missense_Mutation_p.E16K|APEX1_uc001vxi.3_Missense_Mutation_p.E16K|APEX1_uc021rnr.1_Missense_Mutation_p.E16K NM_001641 NP_001632 P27695 APEX1_HUMAN Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA. 16 Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli. DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) AGACGGGGATGAGCTCAGGAC 0.572000 Other BER factors 61 19 0 0 0.00152264 0 0 MMP16 4325 broad.mit.edu 37 8 89068426 89068426 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:89068426G>A uc003yeb.4 - 7 1585 c.1303C>T c.(1303-1305)Ccc>Tcc p.P435S NM_005941 NP_005932 P51512 MMP16_HUMAN Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA. 435 Hemopexin-like 2. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCATGAGGGGGAATTCCACTT 0.423000 53 19 0 0 0.00152264 0 0 ETV6 2120 broad.mit.edu 37 12 11905391 11905391 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:11905391G>A uc001qzz.3 + 1 315 c.41G>A c.(40-42)cGa>cAa p.R14Q NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 14 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CAGCAGGAACGAATTTCATAT 0.532000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 70 23 0 0 0.00278032 0 0 SPATA21 374955 broad.mit.edu 37 1 16736461 16736461 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:16736461C>T uc001ayn.3 - 5 705 c.222G>A c.(220-222)ggG>ggA p.G74G SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.G51G NM_198546 NP_940948 Q7Z572 SPT21_HUMAN Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA. 74 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GGCTCTGTGTCCCTGCAGCCA 0.657000 41 8 0 0 0.000157383 0 0 TOX4 9878 broad.mit.edu 37 14 21960666 21960667 + Splice_Site DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:21960666_21960667GG>AA uc001waz.3 + 7 995 c.892_splice c.e7-1 p.A298_splice TOX4_uc001way.3_Splice_Site_p.A168_splice|TOX4_uc010tlu.2_Splice_Site_p.A275_splice|TOX4_uc010tlv.2_Splice_Site_p.A168_splice NM_014828 NP_055643 O94842 TOX4_HUMAN Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA. 298 PTW/PP1 phosphatase complex|chromatin|nucleus DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TCTTCTTTTAGGCCACTGTGGA 0.411000 86 23 0 0 6.4e-05 0 0 HHLA3 11147 broad.mit.edu 37 1 70820748 70820748 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:70820748G>A uc001dfc.3 + 0 256 c.114G>A c.(112-114)agG>agA p.R38R ANKRD13C_uc001dex.4_5'Flank|ANKRD13C_uc009wbk.3_5'Flank|ANKRD13C_uc001dey.4_5'Flank|HHLA3_uc010oqp.2_Non-coding_Transcript|HHLA3_uc001dfb.3_Silent_p.R38R|HHLA3_uc001dfa.3_Silent_p.R38R NM_001031693 NP_001026863 Q9XRX5 HHLA3_HUMAN Homo sapiens HERV-H LTR-associating 3 (HHLA3), transcript variant 1, mRNA. 38 protein binding large_intestine(3)|lung(1) 4 AGATGCAGAGGATactcagtc 0.493000 36 7 0 0 0.00198382 0 0 IP6K3 117283 broad.mit.edu 37 6 33694609 33694609 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:33694609C>T uc010jvf.2 - 4 1024 c.488G>A c.(487-489)gGa>gAa p.G163E IP6K3_uc003ofb.2_Missense_Mutation_p.G163E NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 163 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 AACCTGGTTTCCGTTGGTGTC 0.637000 74 22 0 0 0.00188189 0 0 JRKL 8690 broad.mit.edu 37 11 96124993 96124993 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:96124993G>A uc009ywu.3 + 1 1432 c.1180G>A c.(1180-1182)Gag>Aag p.E394K JRKL_uc021qpa.1_Intron|CCDC82_uc001pfx.4_5'Flank|CCDC82_uc009ywr.3_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.E394K NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN Homo sapiens jerky homolog-like (mouse) (JRKL), mRNA. 394 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) TATGGTAGAGGAGAAAGAGAG 0.408000 87 21 0 0 0.00229938 0 0 PRSS36 146547 broad.mit.edu 37 16 31157121 31157121 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:31157121C>T uc002ebd.3 - 5 768 c.709G>A c.(709-711)Gac>Aac p.D237N PRSS36_uc010vff.2_Missense_Mutation_p.D12N|PRSS36_uc010vfg.2_Missense_Mutation_p.D237N|PRSS36_uc010vfh.2_Missense_Mutation_p.D237N NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 237 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 TGGCAGGTGTCCCTGCGGCCC 0.597000 96 34 0 0 0.000953801 0 0 GPR37L1 9283 broad.mit.edu 37 1 202096983 202096983 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:202096983C>T uc001gxj.3 + 1 808 c.745C>T c.(745-747)Ctg>Ttg p.L249L NM_004767 NP_004758 O60883 ETBR2_HUMAN Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA. 249 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCAATCCATCCTGGCCAAGTT 0.647000 44 10 0 0 0.000442599 0 0 TPH2 121278 broad.mit.edu 37 12 72372731 72372731 + Splice_Site SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:72372731G>A uc009zrw.1 + 7 947 c.806_splice c.e7-1 p.E269_splice TPH2_uc001swy.2_Splice_Site_p.E179_splice NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 269 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TGCCTTTTTAGAAAGGTCTGG 0.483000 97 28 0 0 0.001512 0 0 OR51G1 79324 broad.mit.edu 37 11 4945077 4945077 + Silent SNP G A A rs143975651 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:4945077G>A uc010qyr.2 - 0 493 c.493C>T c.(493-495)Ctg>Ttg p.L165L NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGCGCTTCAGGAGGAATGGC 0.512000 32 16 0 0 0.000308642 0 0 ALPPL2 251 broad.mit.edu 37 2 233272069 233272069 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:233272069C>T uc002vss.4 + 2 311 c.258C>T c.(256-258)acC>acT p.T86T NM_031313 NP_112603 P10696 PPBN_HUMAN Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA. 86 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GGCCTGAGACCTTCCTGGCCA 0.567000 32 9 0 0 0.000442599 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18800874 18800874 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:18800874C>T uc001rdt.3 + 31 4366 c.4250C>T c.(4249-4251)aCt>aTt p.T1417I PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T1458I|PIK3C2G_uc010sic.2_Missense_Mutation_p.T1236I NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1417 C2. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AAGAGTAAAACTGTATTTGTG 0.343000 33 10 0 0 0.000442599 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028067 170028067 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:170028067G>A uc003isa.1 - 10 2764 c.2429C>T c.(2428-2430)cCa>cTa p.P810L NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA. 810 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GCGAGGAGGTGGAGCGATGGG 0.562000 82 27 0 0 0.001512 0 0 CHID1 66005 broad.mit.edu 37 11 903030 903030 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:903030G>A uc010qwu.1 - 2 396 c.283C>T c.(283-285)Cgc>Tgc p.R95C CHID1_uc010qwv.2_Missense_Mutation_p.R126C|CHID1_uc001lsn.3_Missense_Mutation_p.R90C|CHID1_uc001lso.3_Missense_Mutation_p.R65C|CHID1_uc001lsm.3_Missense_Mutation_p.R65C|CHID1_uc001lsp.3_Missense_Mutation_p.R65C|CHID1_uc010qww.2_Missense_Mutation_p.R65C NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA. 65 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 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;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CAGTAGCTGCGATGCTCAAGA 0.547000 41 23 0 0 0.00188189 0 0 OR56B4 196335 broad.mit.edu 37 11 6129055 6129055 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:6129055C>T uc010qzx.2 + 0 47 c.47C>T c.(46-48)tCc>tTc p.S16F NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCCAGATTTCCCAGTTCATC 0.502000 54 13 0 0 0.00136819 0 0 ZNF687 57592 broad.mit.edu 37 1 151261703 151261704 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:151261703_151261704CC>TT uc001exq.3 + 3 2525_2526 c.2427_2428CC>TT c.(2425-2430)gcccac>gcTTac p.H810Y ZNF687_uc009wmo.3_Missense_Mutation_p.H810Y|ZNF687_uc009wmp.3_Missense_Mutation_p.H810Y NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN Homo sapiens zinc finger protein 687 (ZNF687), mRNA. 810 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTGCCCATGCCCACCTCTACTC 0.649000 37 10 0 0 6.4e-05 0 0 CCP110 9738 broad.mit.edu 37 16 19547582 19547582 + Silent SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:19547582A>G uc002dgl.4 + 3 838 c.591A>G c.(589-591)gaA>gaG p.E197E CCP110_uc002dgk.4_Silent_p.E197E NM_001199022 NP_001185951 O43303 CP110_HUMAN Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA. 197 CEP97 binding. G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CCCCACAAGAAACTCTTATTT 0.388000 133 24 0 0 0.00047179 0 0 ALPK2 115701 broad.mit.edu 37 18 56246704 56246704 + Missense_Mutation SNP G T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:56246704G>T uc002lhj.4 - 3 1518 c.1304C>A c.(1303-1305)cCt>cAt p.P435H NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 435 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATCCTGGTGAGGTCCCAAAAT 0.517000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 88 33 2.08457e-15 9.66291e-15 0.00209593 1 0 F13A1 2162 broad.mit.edu 37 6 6222389 6222390 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:6222389_6222390CC>TT uc003mwv.3 - 7 1111_1112 c.988_989GG>AA c.(988-990)gga>AAa p.G330K F13A1_uc011dib.2_Missense_Mutation_p.G267K NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 330 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.G330V(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGCTGGTATTCCAAGGCATCGT 0.406000 25 11 0 0 6.4e-05 0 0 CHMP4C 92421 broad.mit.edu 37 8 82670747 82670747 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:82670747G>A uc003ycl.3 + 4 844 c.670G>A c.(670-672)Gat>Aat p.D224N NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 224 Intramolecular interaction with N- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 AGAGGATGATGATATCAAACA 0.318000 59 21 0 0 0.000586117 0 0 GALNT13 114805 broad.mit.edu 37 2 155099242 155099242 + Silent SNP G A A rs142707218 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:155099242G>A uc002tyt.4 + 3 614 c.510G>A c.(508-510)gtG>gtA p.V170V GALNT13_uc002tyr.4_Silent_p.V170V|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 170 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.Y169Y(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AGAATTACGTGAAAAATTTAG 0.353000 35 15 0 0 0.000308642 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24532357 24532357 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:24532357G>A uc003nef.3 + 9 1421 c.1393G>A c.(1393-1395)Gag>Aag p.E465K ALDH5A1_uc003neg.3_Missense_Mutation_p.E452K NM_170740 NP_733936 P51649 SSDH_HUMAN Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 452 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GTTCGATACAGAGGAGGAGGC 0.408000 40 16 0 0 0.000422831 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376702 8376702 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:8376702C>T uc001qui.2 - 4 792 c.233G>A c.(232-234)gGg>gAg p.G78E FAM90A1_uc001quh.2_Missense_Mutation_p.G78E NM_018088 NP_060558 Q86YD7 F90A1_HUMAN Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA. 78 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GTTTTCCTTCCCTTCCTTTTC 0.547000 184 19 0 0 0.00152264 0 0 TCP11 6954 broad.mit.edu 37 6 35088211 35088211 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:35088211G>A uc003okd.2 - 6 1148 c.967C>T c.(967-969)Cct>Tct p.P323S TCP11_uc003ojz.1_Missense_Mutation_p.P248S|TCP11_uc003oka.2_Missense_Mutation_p.P248S|TCP11_uc003okb.2_Missense_Mutation_p.P247S|TCP11_uc011dsu.1_Missense_Mutation_p.P305S|TCP11_uc003okc.2_Missense_Mutation_p.P247S|TCP11_uc011dsv.1_Missense_Mutation_p.P272S|TCP11_uc011dsw.1_Missense_Mutation_p.P277S NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA. 310 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 CCTACCTCAGGGAACTCTTCA 0.557000 64 25 0 0 0.00127121 0 0 CPXM2 119587 broad.mit.edu 37 10 125528188 125528188 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:125528188C>T uc001lhk.1 - 8 1478 c.1153G>A c.(1153-1155)Ggc>Agc p.G385S CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 385 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AGCTCCCGGCCCAGCACCTCA 0.597000 95 23 0 0 0.00047179 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549592 102549592 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:102549592G>A uc001yku.4 - 8 1724 c.1534C>T c.(1534-1536)Cgg>Tgg p.R512W HSP90AA1_uc001ykv.4_Missense_Mutation_p.R634W|HSP90AA1_uc001ykw.1_Missense_Mutation_p.R333W|HSP90AA1_uc001ykx.1_Missense_Mutation_p.R501W NM_005348 NP_005339 P07900 HS90A_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA. 512 G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CCATGTTTCCGAAGACGTTCC 0.418000 98 37 0 0 0.000814825 0 0 CCDC132 55610 broad.mit.edu 37 7 92970742 92970742 + Missense_Mutation SNP G C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:92970742G>C uc003umo.3 + 22 2190 c.2062G>C c.(2062-2064)Gtt>Ctt p.V688L CCDC132_uc003ump.3_Missense_Mutation_p.V658L|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.V408L NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. 688 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TTTTCAGGAAGTTTCAGCTGA 0.378000 20 6 0 0 0.00116845 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011947 73011947 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:73011947G>A uc003tyn.1 - 8 1216 c.1168C>T c.(1168-1170)Cct>Tct p.P390S MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.P390S|MLXIPL_uc003tym.1_Missense_Mutation_p.P390S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P390S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.P297S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P132S NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 390 Poly-Pro. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGGGTACAGGAGGGGGTGGG 0.672000 11 4 0 0 0.00024832 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988399 135988399 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:135988399C>T uc002tum.3 - 12 1755 c.1638G>A c.(1636-1638)cgG>cgA p.R546R ZRANB3_uc002tuk.3_Silent_p.R89R|ZRANB3_uc002tul.3_Silent_p.R546R NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA. 546 R -> Q (in dbSNP:rs7608121). intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TATTTTCCTCCCGGAATCTCT 0.363000 86 18 0 0 0.00074312 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243504406 243504406 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:243504406G>A uc001hzw.3 + 10 1456 c.1287G>A c.(1285-1287)aaG>aaA p.K429K SDCCAG8_uc010pyk.2_Silent_p.K284K|SDCCAG8_uc010pyl.2_Silent_p.K241K|SDCCAG8_uc001hzx.3_Silent_p.K241K NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA. 429 Sufficient for homodimerization (By similarity). G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) CAAAGGAAAAGATTTCAGCTA 0.388000 57 12 0 0 0.00136819 0 0 BAIAP2 10458 broad.mit.edu 37 17 79080618 79080618 + Missense_Mutation SNP T A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:79080618T>A uc002jzg.2 + 11 1519 c.1411T>A c.(1411-1413)Tac>Aac p.Y471N BAIAP2_uc002jyz.4_Missense_Mutation_p.Y471N|BAIAP2_uc002jza.2_Missense_Mutation_p.Y471N|BAIAP2_uc002jzc.2_Missense_Mutation_p.Y472N|BAIAP2_uc002jzb.2_Missense_Mutation_p.Y228N|BAIAP2_uc010wuh.1_Missense_Mutation_p.Y393N|BAIAP2_uc002jzd.2_Missense_Mutation_p.Y471N|BAIAP2_uc002jzf.2_Missense_Mutation_p.Y471N|BAIAP2_uc002jze.2_Missense_Mutation_p.Y504N|BAIAP2_uc002jzh.2_Missense_Mutation_p.Y472N|BAIAP2_uc010wui.2_Missense_Mutation_p.Y334N NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA. 471 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) ACCCCCCGATTACGGCGCCGC 0.697000 33 6 0 0 0.00116845 0 0 ABCA13 154664 broad.mit.edu 37 7 48314850 48314850 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:48314850C>T uc003toq.2 + 16 5611 c.5587C>T c.(5587-5589)Cac>Tac p.H1863Y ABCA13_uc010kyr.2_Missense_Mutation_p.H1366Y|ABCA13_uc022acp.1_Missense_Mutation_p.H362Y NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1863 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGATCATTTCCACCTGTCTCC 0.428000 70 27 0 0 0.000586117 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147192 26147192 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:26147192C>T uc002dof.3 + 1 1386 c.994C>T c.(994-996)Cga>Tga p.R332* NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 332 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GAGTGCCATTCGAATAGGGAT 0.552000 165 52 0 0 0.000781405 0 0 WBP11 51729 broad.mit.edu 37 12 14940385 14940385 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:14940385G>A uc001rci.3 - 11 1701 c.1540C>T c.(1540-1542)Ccc>Tcc p.P514S NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN Homo sapiens WW domain binding protein 11 (WBP11), mRNA. 514 Pro-rich. RNA splicing|mRNA processing|rRNA processing cytoplasm WW domain binding|single-stranded DNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GGTCCAAGGGGAGGCACCAAA 0.517000 96 38 0 0 0.00128727 0 0 DOCK11 139818 broad.mit.edu 37 X 117744354 117744354 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:117744354G>A uc004eqp.2 + 27 3132 c.3069G>A c.(3067-3069)gtG>gtA p.V1023V DOCK11_uc004eqq.2_Silent_p.V789V NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1023 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CCAGAAATGTGAACTATAGTT 0.423000 25 22 0 0 0.000586117 0 0 DSG1 1828 broad.mit.edu 37 18 28918295 28918295 + Missense_Mutation SNP A T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:28918295A>T uc002kwp.3 + 9 1495 c.1283A>T c.(1282-1284)aAt>aTt p.N428I NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 428 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGGGAAATAATCCAGCTGAC 0.303000 49 19 0 0 0.00152264 0 0 LRRC27 80313 broad.mit.edu 37 10 134147123 134147123 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:134147123C>T uc010quw.1 + 1 290 c.95C>T c.(94-96)tCc>tTc p.S32F STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Missense_Mutation_p.S32F|LRRC27_uc010quv.1_Missense_Mutation_p.S32F|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.S32F|LRRC27_uc001llj.2_5'Flank NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA. 32 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GCCACCCCCTCCAAAGATGTT 0.537000 56 16 0 0 0.000308642 0 0 GPR98 84059 broad.mit.edu 37 5 90070010 90070010 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:90070010C>T uc003kju.3 + 59 12389 c.12293C>T c.(12292-12294)tCc>tTc p.S4098F GPR98_uc003kjt.3_Missense_Mutation_p.S1804F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4098 Calx-beta 27. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGACTGAGTCCCAGAAGACC 0.403000 24 14 0 0 0.000308642 0 0 REG3G 130120 broad.mit.edu 37 2 79254185 79254185 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:79254185G>A uc002snw.3 + 3 306 c.221G>A c.(220-222)gGa>gAa p.G74E REG3G_uc002snx.3_Missense_Mutation_p.G74E|REG3G_uc010ffu.3_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA. 74 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGGCCCTCTGGAAAACTGGTG 0.557000 108 28 0 0 0.00283554 0 0 PDE4C 5143 broad.mit.edu 37 19 18322736 18322736 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:18322736C>T uc010xqc.2 - 13 2104 c.1624G>A c.(1624-1626)Gtg>Atg p.V542M PDE4C_uc002nik.4_Missense_Mutation_p.V542M|PDE4C_uc002nil.4_Missense_Mutation_p.V542M|PDE4C_uc002nig.4_Missense_Mutation_p.V257M|PDE4C_uc002nih.4_Missense_Mutation_p.V312M|PDE4C_uc010ebk.3_Missense_Mutation_p.V436M|PDE4C_uc002nii.4_Missense_Mutation_p.V510M|PDE4C_uc002nif.4_Missense_Mutation_p.V311M|PDE4C_uc010ebl.3_Missense_Mutation_p.V256M NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 542 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GCACAGTGCACCAGGTTCTGC 0.637000 28 6 0 0 0.00116845 0 0 CDC20B 166979 broad.mit.edu 37 5 54420693 54420693 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:54420693C>T uc003jpo.2 - 8 1330 c.1153G>A c.(1153-1155)Gat>Aat p.D385N CDC20B_uc003jpn.2_Missense_Mutation_p.D385N|CDC20B_uc010ivu.2_Missense_Mutation_p.D385N|CDC20B_uc010ivv.2_3'UTR NM_001170402 NP_001163873 Q86Y33 CD20B_HUMAN Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA. 385 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GCACCTGGATCGTGGGGCCAT 0.537000 50 23 0 0 0.00188189 0 0 CHRNA10 57053 broad.mit.edu 37 11 3687591 3687591 + Missense_Mutation SNP G C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:3687591G>C uc001lyf.3 - 4 1171 c.1099C>G c.(1099-1101)Cct>Gct p.P367A CHRNA10_uc010qxt.2_Missense_Mutation_p.P161A|CHRNA10_uc010qxu.2_Missense_Mutation_p.P161A NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA. 367 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TGGGGGCTAGGAGATAACTCA 0.692000 62 24 0 0 0.000586117 0 0 NYAP2 57624 broad.mit.edu 37 2 226447216 226447216 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:226447216G>A uc002voe.2 + 3 1258 c.1083G>A c.(1081-1083)acG>acA p.T361T NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.T131T NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 361 Pro-rich. TGGAGGTCACGAAGCTTCCCG 0.642000 11 9 0 0 0.000442599 0 0 GLRB 2743 broad.mit.edu 37 4 158057783 158057783 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:158057783C>T uc003ipj.2 + 4 662 c.460C>T c.(460-462)Cat>Tat p.H154Y GLRB_uc021xtp.1_Missense_Mutation_p.H154Y|GLRB_uc021xtq.1_Missense_Mutation_p.H154Y NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 154 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.H154Y(2) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TGCCAATTTTCATGATGTGAC 0.353000 125 49 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13850790 13850790 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:13850790C>T uc003jfd.2 - 30 5127 c.5085G>A c.(5083-5085)caG>caA p.Q1695Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1695 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D1694V(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) ATATTTCCAACTGGTCCAGCA 0.498000 Kartagener syndrome 44 11 0 0 0.000978159 0 0 LCT 3938 broad.mit.edu 37 2 136566094 136566094 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:136566094C>T uc002tuu.1 - 7 3834 c.3823G>A c.(3823-3825)Gga>Aga p.G1275R NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1275 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCCCCACTCCGTTTTCGGTG 0.502000 116 43 0 0 0.00195071 0 0 RGPD4 285190 broad.mit.edu 37 2 108488404 108488404 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:108488404C>T uc010ywk.2 + 19 4026 c.3944C>T c.(3943-3945)tCa>tTa p.S1315L RGPD4_uc002tdu.3_Missense_Mutation_p.S502L|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1315 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGTGGGACTTCAGTTGGCACT 0.403000 179 50 0 0 0.000781405 0 0 HERC2P4 440362 broad.mit.edu 37 16 32163811 32163811 + RNA SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:32163811G>A uc002ecx.3 - 0 c.64C>T Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA. GTGATGGAGCGGAGCTGGGAG 0.522000 78 13 0 0 0.00121646 0 0 FAM131C 348487 broad.mit.edu 37 1 16386002 16386002 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:16386002G>A uc001axz.4 - 5 739 c.549C>T c.(547-549)atC>atT p.I183I NM_182623 NP_872429 Q96AQ9 F131C_HUMAN Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA. 183 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GGAGCTGGACGATGCCTTGGG 0.642000 15 7 0 0 0.000274275 0 0 LPHN1 22859 broad.mit.edu 37 19 14269363 14269364 + Splice_Site DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:14269363_14269364CC>TT uc010xnn.2 - 13 2461 c.2165_splice c.e13-1 p.G722_splice LPHN1_uc010xno.2_Splice_Site_p.G717_splice|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 722 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTTGACCACCCCTGGTGAGAA 0.619000 32 5 0 0 6.4e-05 0 0 TIMM22 29928 broad.mit.edu 37 17 900385 900385 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:900385G>A uc002fsc.3 + 0 29 c.3G>A c.(1-3)atG>atA p.M1I NM_013337 NP_037469 Q9Y584 TIM22_HUMAN Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA. 1 transmembrane transport integral to membrane|mitochondrial inner membrane protein transporter activity breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CGACTGTCATGGCGGCGGCCG 0.667000 18 11 0 0 0.00136819 0 0 CNGA4 1262 broad.mit.edu 37 11 6261744 6261744 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:6261744G>A uc001mco.3 + 3 835 c.720G>A c.(718-720)agG>agA p.R240R CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Silent_p.R200R NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 240 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCCAGCCAGGGAAGAAGAGT 0.562000 64 27 0 0 0.000586117 0 0 NPHS1 4868 broad.mit.edu 37 19 36334407 36334407 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:36334407G>A uc002oby.3 - 16 2457 c.2301C>T c.(2299-2301)ccC>ccT p.P767P NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 767 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane p.N766Y(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCGGGAGGATGGGATTGGCAT 0.577000 121 34 0 0 0.00283554 0 0 CHRNA10 57053 broad.mit.edu 37 11 3688978 3688978 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:3688978G>A uc001lyf.3 - 3 451 c.379C>T c.(379-381)Cca>Tca p.P127S CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA. 127 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) GCGGAACCTGGAGGCTGCGCG 0.741000 10 8 0 0 0.000274275 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232606 81232606 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:81232606C>T uc002fgh.1 - 6 1204 c.1204G>A c.(1204-1206)Ggc>Agc p.G402S PKD1L2_uc002fgj.3_Missense_Mutation_p.G402S NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 402 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGTAGCGAGCCCTTTTGGGTG 0.527000 70 29 0 0 0.00209593 0 0 IL7R 3575 broad.mit.edu 37 5 35871316 35871316 + Splice_Site SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:35871316G>A uc003jjs.3 + 4 626 c.537_splice c.e4+1 p.T179_splice IL7R_uc011coo.2_Splice_Site_p.T179_splice|IL7R_uc011cop.2_Splice_Site NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 179 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CAAATGGACGGTATGTAGTTC 0.358000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 27 14 0 0 0.000308642 0 0 TECPR2 9895 broad.mit.edu 37 14 102910032 102910033 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:102910032_102910033CC>TT uc001ylw.2 + 11 3027_3028 c.2801_2802CC>TT c.(2800-2802)ccc>cTT p.P934L TECPR2_uc010awl.3_Missense_Mutation_p.P934L|TECPR2_uc010txx.2_Missense_Mutation_p.P97L NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 934 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GTGGACTGTCCCTACCCGCTGT 0.614000 19 11 0 0 6.4e-05 0 0 SHKBP1 92799 broad.mit.edu 37 19 41088278 41088278 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:41088278C>T uc002oob.3 + 9 915 c.866C>T c.(865-867)cCt>cTt p.P289L SHKBP1_uc002ooc.3_Intron|SHKBP1_uc010xvl.1_Missense_Mutation_p.P212L|SHKBP1_uc002ooe.3_Missense_Mutation_p.P126L|SHKBP1_uc010xvm.2_Missense_Mutation_p.P126L|SHKBP1_uc010xvn.2_Missense_Mutation_p.P167L NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA. 289 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGGGGGTGCCTGTGGAGGCC 0.597000 86 30 0 0 0.00283554 0 0 ACAA1 30 broad.mit.edu 37 3 38169329 38169329 + Missense_Mutation SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:38169329A>G uc003cht.3 - 6 781 c.574T>C c.(574-576)Ttt>Ctt p.F192L ACAA1_uc003chu.3_Missense_Mutation_p.F159L NM_001607 NP_001598 P09110 THIK_HUMAN Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 192 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) GAAATGCCAAACCGCTCAGCC 0.522000 51 22 0 0 0.00278032 0 0 CNNM1 26507 broad.mit.edu 37 10 101122106 101122106 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:101122106C>T uc010qpi.2 + 3 2270 c.1981C>T c.(1981-1983)Ctc>Ttc p.L661F CNNM1_uc009xwe.3_Missense_Mutation_p.L661F|CNNM1_uc001kpp.4_Missense_Mutation_p.L661F|CNNM1_uc009xwf.3_Missense_Mutation_p.L661F|CNNM1_uc009xwg.3_Missense_Mutation_p.L61F NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN Homo sapiens cyclin M1 (CNNM1), mRNA. 661 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GGAACACTACCTCTACCAGCG 0.547000 33 8 0 0 0.000673444 0 0 CYP1A2 1544 broad.mit.edu 37 15 75043542 75043542 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:75043542G>A uc002ayr.1 + 2 908 c.844G>A c.(844-846)Gac>Aac p.D282N NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 282 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CAGTGTCCGGGACATCACGGG 0.572000 34 18 0 0 0.00152264 0 0 PLEC 5339 broad.mit.edu 37 8 144991362 144991362 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:144991362G>A uc003zaf.1 - 31 13208 c.13038C>T c.(13036-13038)atC>atT p.I4346I PLEC_uc003zab.1_Silent_p.I4209I|PLEC_uc003zac.1_Silent_p.I4213I|PLEC_uc003zad.2_Silent_p.I4209I|PLEC_uc003zae.1_Silent_p.I4177I|PLEC_uc003zag.1_Silent_p.I4187I|PLEC_uc003zah.2_Silent_p.I4195I|PLEC_uc003zaj.2_Silent_p.I4236I NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4346 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTTCTTGGCGATGGCATCAT 0.642000 45 10 0 0 0.000442599 0 0 EDC4 23644 broad.mit.edu 37 16 67910401 67910401 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:67910401G>A uc002eur.3 + 2 489 c.250G>A c.(250-252)Gga>Aga p.G84R EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.G16R|EDC4_uc002eus.3_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 84 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGTCTCTCAGGAGATGATAG 0.542000 49 14 0 0 0.00185496 0 0 SLC25A31 83447 broad.mit.edu 37 4 128689940 128689940 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:128689940C>T uc003ifl.3 + 4 813 c.667C>T c.(667-669)Ctt>Ttt p.L223F NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 223 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity p.L223I(2) NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 AACTCCATTTCTTGTCTCCTT 0.323000 52 18 0 0 0.00074312 0 0 TRMT1L 81627 broad.mit.edu 37 1 185114617 185114617 + Silent SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:185114617A>G uc001grf.4 - 4 881 c.609T>C c.(607-609)gtT>gtC p.V203V TRMT1L_uc010pon.2_Silent_p.V47V NM_030934 NP_001189352 Q7Z2T5 TRM1L_HUMAN Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA. 203 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGTGGCGCCTAACATGTCCTA 0.338000 88 19 0 0 0.000958276 0 0 TTN 7273 broad.mit.edu 37 2 179403769 179403769 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:179403769C>T uc021vsy.1 - 301 91414 c.91189G>A c.(91189-91191)Gat>Aat p.D30397N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D24092N|TTN_uc021vta.1_Missense_Mutation_p.D24025N|TTN_uc021vtb.1_Missense_Mutation_p.D23900N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31324 Ig-like 137. 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) TACTCAGCATCGGGAACAAGC 0.483000 60 20 0 0 0.00152264 0 0 FAT2 2196 broad.mit.edu 37 5 150946893 150946893 + Missense_Mutation SNP T C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:150946893T>C uc003lue.4 - 0 1613 c.1600A>G c.(1600-1602)Aga>Gga p.R534G FAT2_uc010jhx.1_Missense_Mutation_p.R534G NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 534 Cadherin 4. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTGATGCTCTTACCCGGAAG 0.453000 55 21 0 0 0.00229938 0 0 LZTR1 8216 broad.mit.edu 37 22 21329027 21329027 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:21329027G>A uc002ztj.2 + 7 860 c.642G>A c.(640-642)cgG>cgA p.R214R LZTR1_uc002ztk.2_Silent_p.R214R|LZTR1_uc002ztl.2_Silent_p.R220R|LZTR1_uc011ahx.1_Silent_p.R202R NM_144704 NP_653305 Q8N653 LZTR1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGACACTGCGGCAGGAGGGCT 0.652000 46 24 0 0 0.000878237 0 0 PRKX 5613 broad.mit.edu 37 X 3539349 3539349 + Missense_Mutation SNP A T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:3539349A>T uc010nde.3 - 5 1205 c.824T>A c.(823-825)aTt>aAt p.I275N NM_005044 NP_005035 P51817 PRKX_HUMAN Homo sapiens protein kinase, X-linked (PRKX), mRNA. 275 Protein kinase. ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) CAGTTTCTTAATGAGGTCTCT 0.423000 13 25 0 0 0.000720815 0 0 ZNF439 90594 broad.mit.edu 37 19 11978400 11978400 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:11978400C>T uc002mss.3 + 2 644 c.516C>T c.(514-516)tcC>tcT p.S172S ZNF439_uc002msr.3_Silent_p.S36S NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN Homo sapiens zinc finger protein 439 (ZNF439), mRNA. 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 ATCACCCCTCCTTGAGAACAC 0.413000 88 29 0 0 0.000878237 0 0 OR52M1 119772 broad.mit.edu 37 11 4567089 4567089 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:4567089G>A uc010qyf.2 + 0 669 c.669G>A c.(667-669)atG>atA p.M223I NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTATGTGATGATTTTCAGGG 0.512000 156 44 0 0 0.000781405 0 0 HSPB7 27129 broad.mit.edu 37 1 16342188 16342188 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:16342188G>A uc001axr.2 - 2 1242 c.679C>T c.(679-681)Ccg>Tcg p.P227S HSPB7_uc001axo.2_Missense_Mutation_p.P134S|HSPB7_uc001axp.2_Missense_Mutation_p.P217S|HSPB7_uc001axq.2_Missense_Mutation_p.P226S|HSPB7_uc001axs.2_Missense_Mutation_p.P209S NM_014424 NP_055239 Q9UBY9 HSPB7_HUMAN Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA. 134 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) ACCGACGTCGGGTCCACGTCC 0.672000 47 21 0 0 0.00278032 0 0 CSF2RA 1438 broad.mit.edu 37 X 1413224 1413224 + Missense_Mutation SNP G A A rs147844397 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:1413224G>A uc010nct.2 + 8 972 c.650G>A c.(649-651)cGa>cAa p.R217Q CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R217Q|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R217Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.R217Q|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.R84Q|CSF2RA_uc004cpp.2_Missense_Mutation_p.R217Q|CSF2RA_uc010ncv.2_Missense_Mutation_p.R217Q|CSF2RA_uc004cpr.2_Missense_Mutation_p.R217Q NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 217 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) GTTACAGAACGATTCAACCCT 0.582000 198 63 0 0 0.000781405 0 0 PLB1 151056 broad.mit.edu 37 2 28748147 28748147 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:28748147G>A uc002rmb.2 + 4 301 c.257G>A c.(256-258)gGg>gAg p.G86E PLB1_uc010ezj.2_Missense_Mutation_p.G86E NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 86 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCAGACCCAGGGACGGGCGAT 0.507000 25 11 0 0 0.00185496 0 0 PTPRB 5787 broad.mit.edu 37 12 70986324 70986324 + Splice_Site SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:70986324G>A uc001swb.4 - 5 893 c.863_splice c.e5-1 p.A288_splice PTPRB_uc010sto.2_Splice_Site_p.A288_splice|PTPRB_uc010stp.2_Splice_Site_p.A288_splice|PTPRB_uc001swc.4_Splice_Site_p.A506_splice|PTPRB_uc001swa.4_Splice_Site_p.A506_splice|PTPRB_uc001swd.4_Splice_Site_p.A505_splice|PTPRB_uc009zrr.2_Splice_Site_p.A385_splice|PTPRB_uc001swe.3_Splice_Site_p.A506_splice NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 288 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTCCATGGGGGCTAATCAGG 0.403000 43 13 0 0 0.00185496 0 0 MME 4311 broad.mit.edu 37 3 154832934 154832934 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:154832934C>T uc010hvr.1 + 3 559 c.348C>T c.(346-348)gtC>gtT p.V116V MME_uc003fab.1_Silent_p.V116V|MME_uc003fac.1_Silent_p.V116V|MME_uc003fad.1_Silent_p.V116V|MME_uc003fae.1_Silent_p.V116V NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 116 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AACTAGAAGTCGTTTTGAAAG 0.363000 68 21 0 0 0.00229938 0 0 TSEN2 80746 broad.mit.edu 37 3 12545273 12545273 + Missense_Mutation SNP C A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:12545273C>A uc003bxc.3 + 4 1208 c.821C>A c.(820-822)cCa>cAa p.P274Q TSEN2_uc003bwz.3_Missense_Mutation_p.P215Q|TSEN2_uc003bxa.3_Missense_Mutation_p.P274Q|TSEN2_uc011auq.1_Missense_Mutation_p.P274Q|TSEN2_uc003bxb.3_Missense_Mutation_p.P274Q|TSEN2_uc011aur.1_Missense_Mutation_p.P183Q NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA. 274 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 GAGGCTGCCCCAAATGAGGAA 0.547000 324 8 0.000274275 0.00126504 0.000274275 1 0 COL4A4 1286 broad.mit.edu 37 2 227886845 227886846 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:227886845_227886846GG>AA uc021vxr.1 - 42 4235_4236 c.4134_4135CC>TT c.(4132-4137)atccca>atTTca p.P1379S COL4A4_uc021vxs.1_Missense_Mutation_p.P1376S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1379 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.P1379Q(1) 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) GGAAGGCCTGGGATTCGGGGAC 0.579000 216 26 0 0 6.4e-05 0 0 CCDC170 80129 broad.mit.edu 37 6 151939261 151939261 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:151939261C>T uc003qol.3 + 10 2216 c.2127C>T c.(2125-2127)ggC>ggT p.G709G U6_uc021zgw.1_5'Flank NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 709 ACCCACAAGGCCATTTACAGC 0.443000 57 17 0 0 0.000566183 0 0 DCTN1 1639 broad.mit.edu 37 2 74589260 74589260 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:74589260G>A uc002skx.3 - 30 3936 c.3618C>T c.(3616-3618)gtC>gtT p.V1206V SLC4A5_uc002skl.3_Non-coding_Transcript|DCTN1_uc002skt.2_Silent_p.V140V|DCTN1_uc002skv.3_Silent_p.V1072V|DCTN1_uc002sku.3_Silent_p.V1067V|DCTN1_uc002skw.2_Silent_p.V1199V|DCTN1_uc010ffd.3_Silent_p.V1181V|DCTN1_uc002sky.3_Silent_p.V1164V NM_004082 NP_004073 Q14203 DCTN1_HUMAN Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA. 1206 G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TCTCCTTGAGGACCTCATCCT 0.557000 34 9 0 0 0.000442599 0 0 MPLKIP 136647 broad.mit.edu 37 7 40172752 40172752 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:40172752C>T uc003thl.4 - 1 531 c.446G>A c.(445-447)tGg>tAg p.W149* C7orf10_uc022acd.1_5'Flank|C7orf10_uc003thn.2_5'Flank|C7orf10_uc003tho.2_5'Flank NM_138701 NP_619646 Q8TAP9 TTDN1_HUMAN Homo sapiens chromosome 7 open reading frame 11 (C7orf11), mRNA. 149 cell division|mitosis microtubule organizing center|nucleus TAGGCCAGCCCAAGGATCTTC 0.383000 89 32 0 0 0.00178596 0 0 APOBR 55911 broad.mit.edu 37 16 28506027 28506027 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:28506027C>T uc002dqb.2 + 0 58 c.25C>T c.(25-27)Cct>Tct p.P9S NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_5'Flank|CLN3_uc002dpo.3_5'Flank|CLN3_uc002dpm.3_5'Flank|CLN3_uc010vcu.2_5'Flank|CLN3_uc010vcv.2_5'Flank|CLN3_uc002dpp.3_5'Flank|CLN3_uc002dpt.1_5'Flank|CLN3_uc002dpq.1_5'Flank|CLN3_uc010bye.1_5'Flank|CLN3_uc002dpr.1_5'Flank|CLN3_uc010byf.1_5'Flank|CLN3_uc002dps.1_5'Flank|CLN3_uc002dpu.1_5'Flank|CLN3_uc002dpw.1_5'Flank|CLN3_uc010vcw.1_5'Flank|CLN3_uc002dqa.2_5'Flank|CLN3_uc010vcx.1_5'Flank|CLN3_uc002dpx.1_5'Flank|CLN3_uc002dpy.1_5'Flank|CLN3_uc002dpz.1_5'Flank|APOBR_uc010byg.2_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 9 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCTATACCTCCCTGGGCTGCA 0.607000 76 16 0 0 0.000308642 0 0 CXCL9 4283 broad.mit.edu 37 4 76927422 76927422 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:76927422G>A uc003hjh.1 - 1 109 c.70C>T c.(70-72)Cca>Tca p.P24S NM_002416 NP_002407 Q07325 CXCL9_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA. 24 G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTCACTACTGGGGTTCCTGAG 0.428000 107 34 0 0 0.00058488 0 0 TTN 7273 broad.mit.edu 37 2 179399545 179399545 + Missense_Mutation SNP G C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:179399545G>C uc021vsy.1 - 306 94318 c.94093C>G c.(94093-94095)Cat>Gat p.H31365D MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H25060D|TTN_uc021vta.1_Missense_Mutation_p.H24993D|TTN_uc021vtb.1_Missense_Mutation_p.H24868D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32292 Fibronectin type-III 129. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAATATTATGACTGTGTAAA 0.353000 105 24 0 0 0.000720815 0 0 ANAPC11 51529 broad.mit.edu 37 17 79857225 79857225 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:79857225C>T uc002kby.1 + 2 369 c.217C>T c.(217-219)Cca>Tca p.P73S ANAPC11_uc002kbv.1_Intron|ANAPC11_uc002kbw.1_Intron|ANAPC11_uc002kbx.1_Intron|ANAPC11_uc002kbz.1_Intron|ANAPC11_uc002kca.1_Intron|ANAPC11_uc002kcb.1_Intron|ANAPC11_uc002kcc.1_Intron|ANAPC11_uc010dih.1_Intron|NPB_uc002kcd.3_5'Flank NM_001002244 NP_001002244 Q9NYG5 APC11_HUMAN Homo sapiens anaphase promoting complex subunit 11 (ANAPC11), transcript variant 1, mRNA. 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm zinc ion binding kidney(1)|lung(1) 2 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CACAGCTTCCCCAACGCCTGG 0.602000 32 11 0 0 0.000673444 0 0 MS4A13 503497 broad.mit.edu 37 11 60292761 60292761 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:60292761C>T uc001nps.3 + 4 591 c.268C>T c.(268-270)Cat>Tat p.H90Y MS4A13_uc009ync.3_Intron|MS4A13_uc009ynd.3_Intron NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 13 (MS4A13), transcript variant 1, mRNA. 90 integral to membrane endometrium(3)|large_intestine(1)|lung(2)|skin(2) 8 AGAGTTGTCTCATTTTAATTC 0.279000 20 6 0 0 0.00198382 0 0 TTC12 54970 broad.mit.edu 37 11 113222880 113222880 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:113222880G>A uc001pnv.3 + 15 1520 c.1415G>A c.(1414-1416)aGa>aAa p.R472K TTC12_uc001pnu.3_Missense_Mutation_p.R466K|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.R316K NM_017868 NP_060338 Q9H892 TTC12_HUMAN Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA. 466 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) ACTACCCGAAGACACATGGCG 0.498000 52 17 0 0 0.00074312 0 0 MUC17 140453 broad.mit.edu 37 7 100686264 100686264 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:100686264C>T uc003uxp.1 + 2 11620 c.11567C>T c.(11566-11568)tCc>tTc p.S3856F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3856 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) GGTTCATTCTCCATACCTGCT 0.463000 82 15 0 0 0.00244969 0 0 HTR5A 3361 broad.mit.edu 37 7 154863008 154863008 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:154863008G>A uc003wlu.1 + 0 463 c.399G>A c.(397-399)acG>acA p.T133T LOC100128264_uc003wlt.2_Silent_p.A2A|LOC100128264_uc011kvt.1_Silent_p.A2A NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 133 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GGAACGTGACGGCCATAGCCC 0.647000 32 13 0 0 0.00185496 0 0 SCN10A 6336 broad.mit.edu 37 3 38835370 38835370 + Silent SNP C T T rs138739418 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:38835370C>T uc003ciq.3 - 0 132 c.132G>A c.(130-132)caG>caA p.Q44Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 44 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) CTTGGTCCTTCTGCTCCCTAT 0.542000 113 37 0 0 0.00128727 0 0 NFIA 4774 broad.mit.edu 37 1 61798192 61798192 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:61798192G>A uc010oos.2 + 4 851 c.769G>A c.(769-771)Ggc>Agc p.G257S NFIA_uc001czy.3_Missense_Mutation_p.G204S|NFIA_uc001czw.3_Missense_Mutation_p.G212S|NFIA_uc001czv.3_Missense_Mutation_p.G212S NM_001145512 NP_001138984 Q12857 NFIA_HUMAN Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA. 212 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 AGGACATTTGGGCTTCCAGGA 0.338000 69 22 0 0 0.00229938 0 0 SFTPA1 653509 broad.mit.edu 37 10 81371677 81371677 + Silent SNP C T T rs148741681 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:81371677C>T uc009xry.3 + 2 223 c.141C>T c.(139-141)atC>atT p.I47I SFTPA1_uc001kap.3_Silent_p.I32I|SFTPA1_uc001kar.3_Silent_p.I32I|SFTPA1_uc001kaq.3_Silent_p.I32I|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Intron|SFTPA1_uc009xrz.3_Intron NM_001093770 NP_005402 Q8IWL2 SFTA1_HUMAN Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA. 32 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GCCCTGGTATCCCCGGCACTC 0.622000 105 29 0 0 0.00106085 0 0 TDRKH 11022 broad.mit.edu 37 1 151751698 151751698 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:151751698G>A uc009wnb.1 - 4 624 c.442C>T c.(442-444)Cgt>Tgt p.R148C TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R144C|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Missense_Mutation_p.R148C|TDRKH_uc001ezd.4_Missense_Mutation_p.R148C|TDRKH_uc010pdn.1_5'UTR NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 148 KH 2. RNA binding p.R148C(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) CAGATAGAACGAATTGTCTCG 0.398000 50 17 0 0 0.000958276 0 0 MMP26 56547 broad.mit.edu 37 11 5013318 5013318 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:5013318C>T uc001lzv.3 + 4 738 c.720C>T c.(718-720)ctC>ctT p.L240L NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 240 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTTCCAGCTCAGTGCCGATG 0.478000 51 19 0 0 0.00229938 0 0 RIT2 6014 broad.mit.edu 37 18 40323474 40323474 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:40323474C>T uc002lav.3 - 4 811 c.638G>A c.(637-639)aGa>aAa p.R213K RIT2_uc010dnf.3_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA. 213 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane GTP binding|GTPase activity|calmodulin binding endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CATATTTTCTCTCTTCTTCTT 0.373000 73 34 0 0 0.00058488 0 0 NLRP5 126206 broad.mit.edu 37 19 56538654 56538654 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:56538654C>T uc002qmj.3 + 6 1055 c.1055C>T c.(1054-1056)tCc>tTc p.S352F NLRP5_uc002qmi.3_Missense_Mutation_p.S333F NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 352 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGATCATGTCCCGACCAGAA 0.547000 22 14 0 0 0.000422831 0 0 ATP13A4 84239 broad.mit.edu 37 3 193153532 193153532 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:193153532C>T uc003ftd.3 - 24 2781 c.2673_splice c.e24-1 p.K891_splice ATP13A4_uc010hzi.3_Splice_Site NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 891 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) GCACGTCCTTCCCTGTGTAAG 0.403000 75 24 0 0 0.00278032 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857436 9857436 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:9857436C>T uc010uym.2 - 13 4275 c.3965G>A c.(3964-3966)gGa>gAa p.G1322E GRIN2A_uc002czo.4_Missense_Mutation_p.G1322E|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1322 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTAAAAATTTCCCTCCAGAAG 0.527000 114 25 0 0 0.000720815 0 0 PM20D2 135293 broad.mit.edu 37 6 89855983 89855983 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:89855983C>T uc003pmz.3 + 0 215 c.120C>T c.(118-120)gcC>gcT p.A40A NM_001010853 NP_001010853 Q8IYS1 P20D2_HUMAN Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA. 40 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1) 12 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) GGCTGGGGGCCCTGAGCCGCG 0.731000 14 9 0 0 0.000442599 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175339 143175339 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:143175339G>A uc003wdc.1 + 0 374 c.374G>A c.(373-375)aGg>aAg p.R125K LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 125 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CTGAAGTGGAGGTTCCCAGGG 0.512000 50 22 0 0 0.00229938 0 0 AOAH 313 broad.mit.edu 37 7 36588237 36588237 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:36588237C>T uc022abu.1 - 14 1515 c.1114G>A c.(1114-1116)Gga>Aga p.G372R AOAH_uc003tfh.4_Missense_Mutation_p.G372R|AOAH_uc011kba.2_Missense_Mutation_p.G340R NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 372 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ACATCATTTCCAATCATGGCA 0.443000 57 13 0 0 0.00244969 0 0 CDH6 1004 broad.mit.edu 37 5 31297434 31297434 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:31297434G>A uc003jhe.2 + 3 922 c.562G>A c.(562-564)Gat>Aat p.D188N CDH6_uc003jhd.2_Missense_Mutation_p.D188N NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 188 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D188N(2) 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 GGATGCAGATGATCCAACATA 0.378000 69 20 0 0 0.00152264 0 0 OR8K5 219453 broad.mit.edu 37 11 55927605 55927605 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:55927605G>A uc010rja.2 - 0 189 c.189C>T c.(187-189)atC>atT p.I63I NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CCAAATGTCTGATAGAAAAGT 0.388000 67 26 0 0 0.00047179 0 0 SGSM1 129049 broad.mit.edu 37 22 25270513 25270513 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:25270513C>T uc003abg.2 + 12 1580 c.1423C>T c.(1423-1425)Ctc>Ttc p.L475F SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Missense_Mutation_p.L475F|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 475 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GGACACTACTCTCCCCACGCC 0.642000 10 5 0 0 0.00198382 0 0 RRP12 23223 broad.mit.edu 37 10 99148021 99148021 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:99148021G>A uc001knf.3 - 7 1144 c.1005C>T c.(1003-1005)acC>acT p.T335T RRP12_uc009xvm.3_Intron|RRP12_uc010qou.2_Silent_p.T274T|RRP12_uc009xvn.3_Silent_p.T235T NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA. 335 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CATGGCTCAAGGTCATGACCC 0.597000 45 18 0 0 0.000566183 0 0 GPHN 10243 broad.mit.edu 37 14 67431951 67431951 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:67431951G>A uc001xiy.3 + 7 1894 c.773G>A c.(772-774)cGa>cAa p.R258Q GPHN_uc001xiw.3_Missense_Mutation_p.R273Q|GPHN_uc001xix.3_Missense_Mutation_p.R291Q|GPHN_uc010tss.2_Missense_Mutation_p.R271Q|GPHN_uc010tst.2_Missense_Mutation_p.R227Q|GPHN_uc010tsu.2_Missense_Mutation_p.R181Q NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA. 258 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GTGCTCCCACGAGACACAGCC 0.468000 T MLL AL 67 33 0 0 0.000814825 0 0 DNAH2 146754 broad.mit.edu 37 17 7701129 7701129 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:7701129C>T uc002giu.1 + 51 8226 c.8212C>T c.(8212-8214)Cga>Tga p.R2738* NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2738 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGTGCTCTTCCGAGAGGCTAT 0.527000 60 29 0 0 0.00178596 0 0 KIAA1524 57650 broad.mit.edu 37 3 108288297 108288297 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:108288297G>A uc003dxb.4 - 8 1321 c.1052C>T c.(1051-1053)cCt>cTt p.P351L KIAA1524_uc010hpv.1_5'Flank|KIAA1524_uc003dxc.1_Missense_Mutation_p.P192L|KIAA1524_uc010hpw.1_Missense_Mutation_p.P192L NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN Homo sapiens KIAA1524 (KIAA1524), mRNA. 351 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCGTCCAAAGGTTGGCTTAA 0.428000 31 11 0 0 0.000673444 0 0 SCTR 6344 broad.mit.edu 37 2 120221710 120221710 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:120221710C>T uc002tma.3 - 5 851 c.625G>A c.(625-627)Gat>Aat p.D209N SCTR_uc002tlz.3_Missense_Mutation_p.D31N NM_002980 NP_002971 P47872 SCTR_HUMAN Homo sapiens secretin receptor (SCTR), mRNA. 209 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) CTGTGGGCATCGCAGTAGGTG 0.572000 89 28 0 0 0.001512 0 0 ZNF383 163087 broad.mit.edu 37 19 37734132 37734132 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:37734132C>T uc002oft.1 + 7 1574 c.994C>T c.(994-996)Cat>Tat p.H332Y ZNF383_uc002ofs.1_Missense_Mutation_p.H267Y|ZNF383_uc002ofu.1_Missense_Mutation_p.H332Y NM_152604 NP_689817 Q8NA42 ZN383_HUMAN Homo sapiens zinc finger protein 383 (ZNF383), mRNA. 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.H332R(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGAATTCATACTGGTGA 0.433000 76 24 0 0 0.00106085 0 0 RRAGD 58528 broad.mit.edu 37 6 90097304 90097305 + Missense_Mutation DNP CC GT GT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:90097304_90097305CC>GT uc003pnd.4 - 1 436_437 c.153_154GG>AC c.(151-156)ctggac>ctACac p.D52H RRAGD_uc010kcc.3_Intron NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Homo sapiens Ras-related GTP binding D (RRAGD), mRNA. 52 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) TCACTGAAGTCCAGAACTGGAG 0.446000 204 58 0 0 6.4e-05 0 0 CCDC170 80129 broad.mit.edu 37 6 151907184 151907184 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:151907184G>A uc003qol.3 + 6 1342 c.1253G>A c.(1252-1254)gGa>gAa p.G418E NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 418 CTGGTTTCTGGAGGTGTTTTG 0.463000 61 14 0 0 0.000308642 0 0 CUTC 51076 broad.mit.edu 37 10 101507035 101507035 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:101507035C>T uc001kqd.4 + 5 609 c.461C>T c.(460-462)cCa>cTa p.P154L CUTC_uc010qpk.2_Missense_Mutation_p.P154L|CUTC_uc001kqe.4_Non-coding_Transcript NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA. 154 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GTTCATGATCCAATGGCAGCT 0.423000 95 22 0 0 0.00229938 0 0 SLC6A13 6540 broad.mit.edu 37 12 347111 347111 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:347111G>A uc001qic.2 - 4 634 c.544C>T c.(544-546)Cct>Tct p.P182S SLC6A13_uc009zdj.2_Missense_Mutation_p.P182S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P90S|SLC6A13_uc010sdm.1_Missense_Mutation_p.P63S NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 182 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TCGATGACAGGAGAGGTGGCA 0.532000 99 40 0 0 0.00148497 0 0 FBXL2 25827 broad.mit.edu 37 3 33418781 33418781 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:33418781C>T uc003cfp.3 + 10 876 c.805C>T c.(805-807)Cga>Tga p.R269* FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Nonsense_Mutation_p.R185*|FBXL2_uc021wuy.1_Nonsense_Mutation_p.R201*|FBXL2_uc011axo.2_Nonsense_Mutation_p.R164*|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA. 269 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 GGAGGCTGCCCGATGCTCCCA 0.408000 87 41 0 0 0.000781405 0 0 DHRSX 207063 broad.mit.edu 37 X 2209550 2209550 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:2209550G>A uc004cqf.4 - 3 430 c.381C>T c.(379-381)atC>atT p.I127I NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA. 127 binding|oxidoreductase activity p.I127I(4) endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CACCATTGTTGATCAGGACAT 0.443000 186 57 0 0 0.000781405 0 0 VWA3A 146177 broad.mit.edu 37 16 22144410 22144410 + Missense_Mutation SNP G C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:22144410G>C uc010vbq.2 + 19 2158 c.2062G>C c.(2062-2064)Gac>Cac p.D688H VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.D696H NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 688 VWFA 1. extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CTGGTTTGGAGACACAGGTAC 0.562000 17 4 0 0 0.00024832 0 0 TACC2 10579 broad.mit.edu 37 10 123987465 123987465 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:123987465C>T uc001lfv.3 + 13 8198 c.7838C>T c.(7837-7839)tCc>tTc p.S2613F TACC2_uc001lfw.3_Missense_Mutation_p.S759F|TACC2_uc009xzx.3_Missense_Mutation_p.S2568F|TACC2_uc010qtv.2_Missense_Mutation_p.S2617F|TACC2_uc001lfx.3_Missense_Mutation_p.S317F|TACC2_uc001lfy.3_Missense_Mutation_p.S313F|TACC2_uc001lfz.3_Missense_Mutation_p.S691F|TACC2_uc001lga.3_Missense_Mutation_p.S691F|TACC2_uc009xzy.3_Missense_Mutation_p.S703F|TACC2_uc001lgb.3_Missense_Mutation_p.S648F NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2613 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCAGAGAAATCCTCCCAGAAG 0.562000 88 24 0 0 0.000878237 0 0 MYO3A 53904 broad.mit.edu 37 10 26455097 26455097 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:26455097G>A uc001isn.2 + 26 3461 c.3101G>A c.(3100-3102)gGa>gAa p.G1034E MYO3A_uc009xko.1_Missense_Mutation_p.G1034E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1034 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGGGCTCTTGGAAAAACAAAA 0.398000 101 35 0 0 0.0024448 0 0 TECTA 7007 broad.mit.edu 37 11 120984327 120984327 + Silent SNP C T T rs34605023 byFrequency TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:120984327C>T uc010rzo.2 + 4 690 c.690C>T c.(688-690)atC>atT p.I230I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 230 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCCCCGAGATCGTGAATATCC 0.493000 49 25 0 0 0.00047179 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357047 104357047 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:104357047G>A uc004bbr.3 - 0 237 c.166C>T c.(166-168)Ccg>Tcg p.P56S GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA. 53 EF-hand 2. calcium ion binding p.P56S(2)|p.P56P(1)|p.P56L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CGCACCAACGGGTTGTGGCGC 0.557000 49 20 0 0 0.00152264 0 0 ZFP30 22835 broad.mit.edu 37 19 38125950 38125950 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:38125950C>T uc002ogv.1 - 5 2008 c.1492G>A c.(1492-1494)Gaa>Aaa p.E498K ZFP30_uc002ogw.1_Missense_Mutation_p.E498K|ZFP30_uc002ogx.1_Missense_Mutation_p.E498K|ZFP30_uc010xtt.1_Missense_Mutation_p.E497K NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E498K(2) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTTACATTCCTTACATTTG 0.338000 56 27 0 0 0.000586117 0 0 PRR13 54458 broad.mit.edu 37 12 53837387 53837387 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:53837387C>T uc001scz.4 + 2 396 c.232C>T c.(232-234)Cct>Tct p.P78S PRR13_uc001scy.4_Missense_Mutation_p.P28S|PCBP2_uc010soh.1_5'UTR|PRR13_uc001sda.4_Missense_Mutation_p.P78S NM_018457 NP_060927 Q9NZ81 PRR13_HUMAN Homo sapiens proline rich 13 (PRR13), transcript variant 2, mRNA. 78 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1) 6 GGGTCCCTACCCTCCTCCATA 0.607000 27 7 0 0 0.00244969 0 0 GNAQ 2776 broad.mit.edu 37 9 80336301 80336301 + Missense_Mutation SNP C G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:80336301C>G uc004akw.3 - 6 1086 c.1018G>C c.(1018-1020)Gtc>Ctc p.V340L GNAQ_uc011lso.2_Missense_Mutation_p.V138L|GNAQ_uc004akv.2_5'Flank NM_002072 NP_002063 P50148 GNAQ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA. 340 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 GCAGCAAAGACAAAGCGGATA 0.507000 Mis uveal melanoma 29 12 0 0 0.00136819 0 0 ADO 84890 broad.mit.edu 37 10 64564987 64564988 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:64564987_64564988CC>TT uc001jmg.3 + 0 472_473 c.168_169CC>TT c.(166-171)agcctc>agTTtc p.L57F NM_032804 NP_116193 Q96SZ5 AEDO_HUMAN Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA. 57 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) AGCTGAAGAGCCTCCTGACCCA 0.708000 16 6 0 0 6.4e-05 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170463 90170463 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:90170463G>A uc003hsm.1 - 1 1318 c.799C>T c.(799-801)Cca>Tca p.P267S GPRIN3_uc021xqb.1_Missense_Mutation_p.P267S NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN Homo sapiens GPRIN family member 3 (GPRIN3), mRNA. 267 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) AGGGGGGTTGGTTGAGGTGTC 0.557000 98 30 0 0 0.001512 0 0 TREML5P 221438 broad.mit.edu 37 6 41217168 41217168 + RNA SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:41217168G>A uc003oqe.1 + 0 c.54G>A Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA. ACCGCATGGAGGGCAAGGTTT 0.567000 109 31 0 0 0.00283554 0 0 CASD1 64921 broad.mit.edu 37 7 94174935 94174935 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:94174935C>T uc003uni.4 + 11 1782 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S CASD1_uc003unj.4_Missense_Mutation_p.P519S NM_022900 NP_075051 Q96PB1 CASD1_HUMAN Homo sapiens CAS1 domain containing 1 (CASD1), mRNA. 519 integral to membrane p.P519S(2) NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTACTTTGTCCCCTTGGTCAC 0.328000 73 7 0 0 0.000157383 0 0 EEA1 8411 broad.mit.edu 37 12 93244958 93244959 + Nonsense_Mutation DNP CC AT AT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:93244958_93244959CC>AT uc001tck.3 - 8 991_992 c.726_727GG>AT c.(724-729)ttggaa>ttATaa p.E243* NM_003566 NP_003557 Q15075 EEA1_HUMAN Homo sapiens early endosome antigen 1 (EEA1), mRNA. 243 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CGCTCACGTTCCAAGGTCATGT 0.381000 43 21 0 0 6.4e-05 0 0 MYH4 4622 broad.mit.edu 37 17 10346726 10346726 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:10346726C>T uc002gmn.3 - 39 5897 c.5786G>A c.(5785-5787)cGg>cAg p.R1929Q AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1929 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTGAACCTCCCGACTCTTCAC 0.463000 87 25 0 0 0.00127121 0 0 MTMR7 9108 broad.mit.edu 37 8 17198909 17198909 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:17198909C>T uc003wxm.3 - 5 934 c.695G>A c.(694-696)gGa>gAa p.G232E MTMR7_uc003wxn.3_Missense_Mutation_p.G11E NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 232 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GAAGTCACTTCCTGGATTGGC 0.557000 39 14 0 0 0.000422831 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45919724 45919724 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:45919724G>A uc001nbr.3 + 1 515 c.190G>A c.(190-192)Gac>Aac p.D64N MAPK8IP1_uc010rgp.1_Missense_Mutation_p.D48N NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 64 vesicle-mediated transport nucleus|perinuclear region of cytoplasm MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) ACAGTGCAAAGACACCCTGTC 0.562000 25 10 0 0 0.000442599 0 0 OGDHL 55753 broad.mit.edu 37 10 50964955 50964955 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:50964955G>A uc009xog.3 - 1 357 c.323C>T c.(322-324)gCc>gTc p.A108V OGDHL_uc001jie.3_Missense_Mutation_p.A81V|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 81 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCCAGAAAAGGCTTCCTCGCT 0.597000 60 18 0 0 0.000958276 0 0 XIRP2 129446 broad.mit.edu 37 2 168100347 168100347 + Silent SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:168100347A>G uc002udx.3 + 8 2534 c.2445A>G c.(2443-2445)caA>caG p.Q815Q XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q640Q|XIRP2_uc010fpq.3_Silent_p.Q593Q|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 640 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTGAAACCCAACCTTTGGAGA 0.373000 89 34 0 0 0.000692331 0 0 INO80D 54891 broad.mit.edu 37 2 206921399 206921399 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:206921399C>T uc002vaz.4 - 3 892 c.487G>A c.(487-489)Ggg>Agg p.G163R NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN Homo sapiens INO80 complex subunit D (INO80D), mRNA. 163 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 ACAGTTGCCCCTTTCTTTAGG 0.498000 15 6 0 0 0.00198382 0 0 TRIM51 84767 broad.mit.edu 37 11 55659052 55659052 + Missense_Mutation SNP C T T rs148245438 byFrequency TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:55659052C>T uc010rip.2 + 6 1395 c.1303C>T c.(1303-1305)Ccc>Tcc p.P435S TRIM51_uc010riq.2_Missense_Mutation_p.P292S NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 435 B30.2/SPRY. intracellular zinc ion binding p.P435T(1)|p.P276T(1) ATACACCATCCCCAATTGCTC 0.458000 116 38 0 0 0.00148497 0 0 ASMT 438 broad.mit.edu 37 X 1742187 1742187 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:1742187G>A uc004cqd.3 + 2 441 c.225G>A c.(223-225)gtG>gtA p.V75V ASMT_uc010ncy.3_Silent_p.V75V|ASMT_uc004cqe.3_Silent_p.V75V NM_004043 NP_004034 P46597 HIOM_HUMAN Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA. 75 melatonin biosynthetic process|translation cytosol S-methyltransferase activity|acetylserotonin O-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCTGAAAGTGGAGACGAGGG 0.577000 48 18 0 0 0.000958276 0 0 WDR17 116966 broad.mit.edu 37 4 177100723 177100723 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:177100723C>T uc003iuj.3 + 30 4265 c.3962C>T c.(3961-3963)cCa>cTa p.P1321L WDR17_uc003ium.4_Missense_Mutation_p.P1282L|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.P532L NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 1321 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CGACTCAATCCATTCTGATAG 0.383000 70 17 0 0 0.00074312 0 0 TJP3 27134 broad.mit.edu 37 19 3734327 3734327 + Missense_Mutation SNP A T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:3734327A>T uc010xhv.2 + 6 979 c.979A>T c.(979-981)Atc>Ttc p.I327F TJP3_uc010xhs.2_Missense_Mutation_p.I294F|TJP3_uc010xht.2_Missense_Mutation_p.I258F|TJP3_uc010xhu.2_Missense_Mutation_p.I303F|TJP3_uc010xhw.2_Missense_Mutation_p.I313F NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 308 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTGCAGACATCTCGGACCT 0.612000 42 16 0 0 0.000566183 0 0 ACPL2 92370 broad.mit.edu 37 3 141011495 141011495 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:141011495C>T uc003etu.3 + 7 1190 c.891C>T c.(889-891)tcC>tcT p.S297S ACPL2_uc003etv.3_Silent_p.S297S|ACPL2_uc011bna.2_Silent_p.S259S|ACPL2_uc011bnb.2_Silent_p.S280S NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA. 297 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CCATAGACTCCATGCTCTGCC 0.512000 50 13 0 0 0.00136819 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21543247 21543247 + Missense_Mutation SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:21543247A>G uc001vzp.3 + 2 1387 c.1358A>G c.(1357-1359)gAg>gGg p.E453G ARHGEF40_uc001vzn.1_Missense_Mutation_p.E453G|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Intron NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 453 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 ACAGCAGGCGAGAAAGAGCCT 0.562000 47 20 0 0 0.00152264 0 0 DOCK6 57572 broad.mit.edu 37 19 11327937 11327937 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:11327937G>A uc002mqs.4 - 28 3722 c.3681C>T c.(3679-3681)tcC>tcT p.S1227S DOCK6_uc010xlq.2_Silent_p.S566S NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 1227 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TGCTGGCCCGGGAGCCAGGGG 0.572000 21 6 0 0 0.00116845 0 0 SCN11A 11280 broad.mit.edu 37 3 38888526 38888526 + Missense_Mutation SNP G A A rs143537709 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:38888526G>A uc021wvy.1 - 25 5234 c.5035C>T c.(5035-5037)Cgc>Tgc p.R1679C NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1679 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1679C(2)|p.R1679H(1) 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) CAGTGGAGGCGATCTTCACTC 0.463000 64 18 0 0 0.00074312 0 0 LPA 4018 broad.mit.edu 37 6 161020674 161020674 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:161020674G>A uc003qtl.3 - 20 3265 c.3145C>T c.(3145-3147)Ccc>Tcc p.P1049S NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3557 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTACCCCGGGGGTTTCCTCA 0.423000 94 28 0 0 0.000720815 0 0 CASQ1 844 broad.mit.edu 37 1 160171137 160171137 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:160171137G>A uc010pja.2 + 10 1419 c.1162G>A c.(1162-1164)Gag>Aag p.E388K NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 388 Asp-rich. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATCAACACAGAGGACGATGA 0.537000 26 9 0 0 0.000442599 0 0 GRIK3 2899 broad.mit.edu 37 1 37271852 37271852 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:37271852C>T uc001caz.2 - 13 2302 c.2167G>A c.(2167-2169)Gag>Aag p.E723K GRIK3_uc001cba.1_Missense_Mutation_p.E723K NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 723 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ATGCCCTCCTCGTTGTTCTTC 0.592000 47 18 0 0 0.00152264 0 0 AP2A1 160 broad.mit.edu 37 19 50306388 50306388 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:50306388C>T uc002ppn.3 + 17 2473 c.2262C>T c.(2260-2262)gtC>gtT p.V754V AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.V732V|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.3_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA. 754 Golgi to endosome transport|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|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) ACAACGGGGTCCTGTTCGAGA 0.632000 44 11 0 0 0.00185496 0 0 THBS3 7059 broad.mit.edu 37 1 155166937 155166937 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:155166937G>A uc001fix.3 - 20 2672 c.2567C>T c.(2566-2568)cCt>cTt p.P856L THBS3_uc021pat.1_Missense_Mutation_p.P253L|THBS3_uc010pfu.2_Missense_Mutation_p.P736L|THBS3_uc009wqi.3_Missense_Mutation_p.P847L|THBS3_uc001fiy.3_Missense_Mutation_p.P385L NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 856 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACCTGATCAGGGGTGTGGCC 0.582000 72 24 0 0 0.000586117 0 0 IQCH 64799 broad.mit.edu 37 15 67768157 67768157 + Splice_Site SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:67768157G>A uc002aqo.2 + 18 2896 c.2799_splice c.e18+1 p.E933_splice IQCH_uc002aqp.2_Splice_Site_p.E594_splice|IQCH_uc002aqq.2_Splice_Site_p.E590_splice|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 933 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TGATGTTGAGGTATGAAGGGT 0.463000 44 13 0 0 0.000308642 0 0 THOC5 8563 broad.mit.edu 37 22 29921844 29921844 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr22:29921844G>A uc003afr.3 - 12 1493 c.1158C>T c.(1156-1158)atC>atT p.I386I THOC5_uc003afq.3_Silent_p.I47I|THOC5_uc003afs.3_Silent_p.I386I|THOC5_uc003aft.3_Silent_p.I386I|THOC5_uc003afu.3_Silent_p.I386I NM_001002878 NP_003669 Q13769 THOC5_HUMAN Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA. 386 RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton RNA binding|protein binding p.L385L(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGATGGGGGTGATCAGCTCCA 0.547000 78 27 0 0 0.00209593 0 0 OR4A5 81318 broad.mit.edu 37 11 51411595 51411595 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:51411595G>A uc001nhi.2 - 0 854 c.801C>T c.(799-801)ttC>ttT p.F267F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ACACAGTCATGAACTTATCAG 0.368000 45 7 0 0 0.00198382 0 0 CWH43 80157 broad.mit.edu 37 4 49046821 49046821 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:49046821C>T uc003gyv.3 + 13 2004 c.1822C>T c.(1822-1824)Cat>Tat p.H608Y CWH43_uc011bzl.2_Missense_Mutation_p.H581Y NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 608 Required for function in lipid remodeling (By similarity). GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CAGCACTGATCATGACAGATG 0.373000 74 19 0 0 0.000958276 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356754 37356754 + Silent SNP C G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:37356754C>G uc002xjc.3 + 1 1313 c.1050C>G c.(1048-1050)ctC>ctG p.L350L NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 350 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity p.L350F(1) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CCTGCGTGCTCAAGGGCCTCT 0.617000 50 3 0 0 6.4e-05 0 0 SIK1 150094 broad.mit.edu 37 21 44839834 44839834 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr21:44839834G>A uc002zdf.2 - 8 1151 c.1024C>T c.(1024-1026)Ctt>Ttt p.L342F NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 342 UBA. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 AGCCGCTCAAGGAGGAGGTAA 0.612000 16 4 0 0 0.00024832 0 0 HDAC3 8841 broad.mit.edu 37 5 141008874 141008874 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:141008874C>T uc003llf.2 - 7 543 c.477_splice c.e7-1 p.K159_splice HDAC3_uc003lle.1_Splice_Site_p.K102_splice|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron NM_003883 NP_003874 O15379 HDAC3_HUMAN Homo sapiens histone deacetylase 3 (HDAC3), mRNA. 159 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) AGGGTGGTACCTAGAGGGAAG 0.547000 37 10 0 0 0.000673444 0 0 KSR2 283455 broad.mit.edu 37 12 117962858 117962858 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:117962858C>T uc001two.2 - 13 1986 c.1931G>A c.(1930-1932)gGa>gAa p.G644E NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 673 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGGCCCTTTCCAATGAGCTC 0.622000 49 6 0 0 0.00198382 0 0 KCNK18 338567 broad.mit.edu 37 10 118957018 118957018 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:118957018C>T uc010qsr.2 + 0 19 c.19C>T c.(19-21)Ccc>Tcc p.P7S NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 7 integral to membrane|plasma membrane p.P7A(2)|p.P7P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CTCGGGGCACCCCCAGGCCAG 0.632000 57 26 0 0 0.00106085 0 0 KIAA0240 23506 broad.mit.edu 37 6 42796660 42796660 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:42796660C>T uc003osn.1 + 5 740 c.589C>T c.(589-591)Ccc>Tcc p.P197S KIAA0240_uc003osm.1_Missense_Mutation_p.P197S|KIAA0240_uc011duw.1_Missense_Mutation_p.P197S|KIAA0240_uc003oso.1_Missense_Mutation_p.P197S|KIAA0240_uc003osp.1_Missense_Mutation_p.P197S NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 197 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GATCAGTGTTCCCAGCCAGCA 0.438000 109 42 0 0 0.000781405 0 0 OSBPL10 114884 broad.mit.edu 37 3 31710258 31710258 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:31710258C>T uc021wuu.1 - 9 2643 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K OSBPL10_uc003ceu.1_Missense_Mutation_p.E415K|OSBPL10_uc011axf.2_Missense_Mutation_p.E594K NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA. 658 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CCATTCCATTCCCCATGGGCT 0.423000 118 15 0 0 0.000308642 0 0 R3HDM1 23518 broad.mit.edu 37 2 136479539 136479539 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:136479539C>T uc002tuo.3 + 23 3192 c.2822C>T c.(2821-2823)cCt>cTt p.P941L R3HDM1_uc010fni.3_Missense_Mutation_p.P940L|R3HDM1_uc002tup.3_Missense_Mutation_p.P886L|R3HDM1_uc010zbh.2_Missense_Mutation_p.P689L NM_015361 NP_056176 Q15032 R3HD1_HUMAN Homo sapiens R3H domain containing 1 (R3HDM1), mRNA. 941 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CAGTACAATCCTCCTGCTGTT 0.458000 60 13 0 0 0.00074312 0 0 FMN1 342184 broad.mit.edu 37 15 33194231 33194231 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:33194231C>T uc001zhf.4 - 8 2719 c.2719G>A c.(2719-2721)Gag>Aag p.E907K NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN Homo sapiens formin 1 (FMN1), mRNA. 1130 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TGGGCTAACTCATGTAAAAAT 0.378000 60 19 0 0 0.00152264 0 0 IDE 3416 broad.mit.edu 37 10 94250265 94250266 + Missense_Mutation DNP CG AT AT rs150132183 byFrequency TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:94250265_94250266CG>AT uc001kia.3 - 11 1593_1594 c.1517_1518CG>AT c.(1516-1518)ccg>cAT p.P506H IDE_uc010qnp.2_5'UTR|IDE_uc001khz.3_5'UTR NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 506 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGACTTCATCCGGTATAGCTTC 0.421000 567 7 0 0 6.4e-05 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572532 101572532 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:101572532C>T uc003dvp.3 + 4 1277 c.1162C>T c.(1162-1164)Cac>Tac p.H388Y NFKBIZ_uc003dvo.3_Missense_Mutation_p.H288Y|NFKBIZ_uc010hpo.3_Missense_Mutation_p.H288Y|NFKBIZ_uc003dvq.3_Missense_Mutation_p.H266Y NM_031419 NP_001005474 Q9BYH8 IKBZ_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA. 388 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CATGGTGGGGCACGAGATGGC 0.498000 90 24 0 0 0.00278032 0 0 EMBP1 647121 broad.mit.edu 37 1 121298784 121298784 + RNA SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:121298784G>A uc001eiu.1 + 2 c.591G>A Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA. CTTCTGAGAGGAAAAAGAACG 0.313000 8 3 0 0 6.4e-05 0 0 FPR3 2359 broad.mit.edu 37 19 52327351 52327352 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:52327351_52327352CC>TT uc002pxt.1 + 1 534_535 c.350_351CC>TT c.(349-351)acc>aTT p.T117I FPR3_uc021uyq.1_Missense_Mutation_p.T117I NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 117 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TACCTGATCACCATCATTGCTC 0.490000 58 21 0 0 6.4e-05 0 0 PADI6 353238 broad.mit.edu 37 1 17723567 17723567 + Splice_Site SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:17723567G>A uc001bak.1 + 15 1619 c.1619_splice c.e15-1 p.G540_splice NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. 532 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CTTCCTACAGGAAGGGAAGCC 0.597000 16 5 0 0 0.00116845 0 0 FAM108A1 81926 broad.mit.edu 37 19 1877619 1877619 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:1877619G>A uc002luf.3 - 4 1154 c.748C>T c.(748-750)Ctg>Ttg p.L250L FAM108A1_uc002lud.3_Silent_p.T167T|FAM108A1_uc002lue.3_Silent_p.L199L|FAM108A1_uc002lug.3_Silent_p.L199L NM_031213 NP_112490 Q96GS6 F18A1_HUMAN Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA. 199 extracellular region hydrolase activity endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Ovarian(11;0.000137) 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) CGCGAGGCCAGGTCCACGGTG 0.692000 25 5 0 0 0.00198382 0 0 KRTAP22-1 337979 broad.mit.edu 37 21 31973485 31973485 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr21:31973485G>A uc011add.2 + 0 46 c.46G>A c.(46-48)Gga>Aga p.G16R KRTAP6-2_uc011adc.2_5'Flank NM_181620 NP_853651 Q3MIV0 KR221_HUMAN Homo sapiens keratin associated protein 22-1 (KRTAP22-1), mRNA. 16 intermediate filament p.G16*(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 8 CTATGCCAAAGGAGGCCTGGG 0.483000 111 47 0 0 0.000781405 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703825 187703825 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:187703825G>A uc002upu.1 - 3 395 c.355C>T c.(355-357)Ccc>Tcc p.P119S NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 119 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCTGGTTGGGGAGTTTGAACT 0.393000 195 50 0 0 0.000781405 0 0 KLHL36 79786 broad.mit.edu 37 16 84691333 84691333 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:84691333G>A uc002fig.3 + 2 1061 c.920G>A c.(919-921)cGg>cAg p.R307Q KLHL36_uc010chl.3_Missense_Mutation_p.R306Q NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA. 307 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GTCTCCGAGCGGTGTCTGGAG 0.677000 16 10 0 0 0.000442599 0 0 ATP2A3 489 broad.mit.edu 37 17 3851089 3851089 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:3851089C>T uc002fwy.2 - 7 864 c.691G>A c.(691-693)Gag>Aag p.E231K ATP2A3_uc002fwz.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E231K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E231K NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 231 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) TTGCCCAGCTCCGTGTGCAGG 0.667000 49 18 0 0 0.00188189 0 0 NBEAL1 65065 broad.mit.edu 37 2 204045118 204045118 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:204045118G>A uc002uzt.3 + 41 6724 c.6391G>A c.(6391-6393)Gat>Aat p.D2131N NBEAL1_uc021vvj.1_Missense_Mutation_p.D834N NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2131 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGACTGTGCAGATCGACAGTT 0.348000 353 120 0 0 0.000781405 0 0 C19orf66 55337 broad.mit.edu 37 19 10202783 10202783 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:10202783G>A uc002mmu.4 + 7 979 c.681G>A c.(679-681)aaG>aaA p.K227K C19orf66_uc002mmv.4_Silent_p.K191K|C19orf66_uc002mmw.4_Silent_p.K176K NM_018381 NP_060851 Q9NUL5 CS066_HUMAN Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA. 227 large_intestine(3)|skin(1) 4 CTCACCCCAAGAGCCGGAAGC 0.642000 65 13 0 0 0.000566183 0 0 AZU1 566 broad.mit.edu 37 19 831808 831808 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:831808C>T uc002lpz.1 + 4 703 c.687C>T c.(685-687)ttC>ttT p.F229F NM_001700 NP_001691 P20160 CAP7_HUMAN Homo sapiens azurocidin 1 (AZU1), mRNA. 229 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding p.F228F(1) NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGACTTCTTCACCCGAGTGG 0.706000 45 8 0 0 0.000442599 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906293 906293 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:906293C>T uc001ace.3 + 4 674 c.639C>T c.(637-639)ccC>ccT p.P213P PLEKHN1_uc001acd.3_Silent_p.P173P|PLEKHN1_uc001acf.3_Silent_p.P173P NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 213 PH 1. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGCTCTGCCCCAGCCGGGCCG 0.721000 31 9 0 0 0.000673444 0 0 TTC22 55001 broad.mit.edu 37 1 55253402 55253402 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:55253402C>T uc009vzt.1 - 2 826 c.721G>A c.(721-723)Gag>Aag p.E241K TTC22_uc001cxz.4_Missense_Mutation_p.E241K NM_001114108 NP_001107580 Q5TAA0 TTC22_HUMAN Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA. 241 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 CGGGGGTCCTCGGACTTCAGC 0.652000 14 6 0 0 0.000157383 0 0 CBL 867 broad.mit.edu 37 11 119144732 119144732 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:119144732C>T uc001pwe.3 + 3 883 c.745C>T c.(745-747)Cag>Tag p.Q249* NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 249 Cbl-PTB.|SH2-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.Q249E(2) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCGACTCTTTCAGGTAGGACA 0.368000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 98 8 0 0 0.000442599 0 0 RELN 5649 broad.mit.edu 37 7 103275910 103275910 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:103275910G>A uc022ajr.1 - 18 2587 c.2427C>T c.(2425-2427)ctC>ctT p.L809L RELN_uc022ajq.1_Silent_p.L809L|RELN_uc010liz.3_Silent_p.L809L NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 809 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATGCTCCAGGAGTTTCCAAG 0.428000 64 26 0 0 0.000720815 0 0 UNC5B 219699 broad.mit.edu 37 10 73053200 73053200 + Missense_Mutation SNP C T T rs145494820 by1000genomes TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:73053200C>T uc001jro.3 + 11 2262 c.1811C>T c.(1810-1812)tCg>tTg p.S604L UNC5B_uc001jrp.3_Missense_Mutation_p.S593L NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 604 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TTGAGCCCCTCGGTGACCTGT 0.622000 74 30 0 0 0.00209593 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43482359 43482359 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:43482359G>A uc002iix.3 - 2 605 c.156C>T c.(154-156)ccC>ccT p.P52P ARHGAP27_uc010dak.3_Silent_p.P52P|ARHGAP27_uc010wjl.1_Silent_p.P193P NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA. 393 SH3. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) ACCAGCCGGGGGGTGTGGTCA 0.622000 57 17 0 0 0.000422831 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594448 140594448 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:140594448G>A uc003lja.1 + 0 940 c.753G>A c.(751-753)caG>caA p.Q251Q NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 251 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATAGAGTGCAGATCTCTGAGG 0.512000 101 58 0 0 0.000781405 0 0 P2RX7 5027 broad.mit.edu 37 12 121603926 121603927 + Missense_Mutation DNP CC AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:121603926_121603927CC>AA uc001tzm.3 + 6 832_833 c.680_681CC>AA c.(679-681)ccc>cAA p.P227Q P2RX7_uc001tzn.3_Missense_Mutation_p.P137Q|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Missense_Mutation_p.P57Q NM_002562 NP_002553 A8K2Z0 A8K2Z0_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA. 227 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCACAGTGTCCCATTTTCCGAC 0.436000 544 9 0 0 6.4e-05 0 0 LGI1 9211 broad.mit.edu 37 10 95553011 95553011 + Nonsense_Mutation SNP G T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:95553011G>T uc001kjc.4 + 6 1078 c.742G>T c.(742-744)Gag>Tag p.E248* LGI1_uc021pwk.1_Nonsense_Mutation_p.E248*|LGI1_uc010qnv.2_Nonsense_Mutation_p.E200*|LGI1_uc009xui.3_Non-coding_Transcript NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 248 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TTTGAATGATGAGTATGTAGT 0.358000 74 25 3.6726e-16 1.70527e-15 0.000586117 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133670117 133670117 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:133670117C>T uc003eqa.4 - 5 1070 c.796G>A c.(796-798)Gct>Act p.A266T SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.A98T NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 266 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 ACCAATAAAGCTGAAGAAATG 0.498000 55 25 0 0 0.00278032 0 0 MYOF 26509 broad.mit.edu 37 10 95083084 95083084 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:95083084G>A uc001kin.3 - 46 5426 c.5303C>T c.(5302-5304)cCc>cTc p.P1768L MYOF_uc001kio.3_Missense_Mutation_p.P1755L|MYOF_uc009xue.3_Intron NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1768 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.P1768L(2) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAAACTCTTGGGGAAAACATC 0.458000 82 24 0 0 0.00278032 0 0 SIK1 150094 broad.mit.edu 37 21 44838407 44838407 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr21:44838407G>A uc002zdf.2 - 11 1604 c.1477C>T c.(1477-1479)Ccc>Tcc p.P493S NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 493 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GTGGTGGAGGGGGAGACGACT 0.637000 25 8 0 0 0.000442599 0 0 TLR8 51311 broad.mit.edu 37 X 12939014 12939014 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:12939014C>T uc004cvd.3 + 2 2079 c.1909C>T c.(1909-1911)Cgc>Tgc p.R637C TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.R619C NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 619 I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CAGTGGCAATCGCCTTGACAT 0.363000 22 31 0 0 0.00283554 0 0 GRIN1 2902 broad.mit.edu 37 9 140043520 140043520 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:140043520G>A uc004clk.3 + 3 960 c.630G>A c.(628-630)gaG>gaA p.E210E GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Silent_p.E207E|GRIN1_uc004cln.3_Silent_p.E231E|GRIN1_uc004clo.3_Silent_p.E231E|GRIN1_uc004clm.3_Silent_p.E210E|GRIN1_uc004cll.3_Silent_p.E210E NM_007327 NP_015566 Q05586 NMDZ1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA. 210 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGCTGATGGAGGCGAAAGAGC 0.622000 13 6 0 0 0.000157383 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059214 152059214 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:152059214G>A uc001ezo.1 - 2 1009 c.944C>T c.(943-945)cCa>cTa p.P315L NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 315 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) TGTCTGAGATGGTGACCTGGC 0.453000 219 62 0 0 0.000781405 0 0 GALNTL2 117248 broad.mit.edu 37 3 16217062 16217062 + Nonsense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:16217062G>A uc003car.4 + 0 879 c.404G>A c.(403-405)tGg>tAg p.W135* GALNTL2_uc003caq.4_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 135 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A137fs*2(1) NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 AAGAGGGACTGGGGGGCTGAT 0.642000 27 10 0 0 0.000673444 0 0 MEP1A 4224 broad.mit.edu 37 6 46787310 46787310 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:46787310C>T uc011dwh.1 + 5 517 c.509C>T c.(508-510)tCc>tTc p.S170F MEP1A_uc010jzh.1_Missense_Mutation_p.S142F|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.S42F NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 142 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.T170T(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CAGAACATTTCCATTGGCCAA 0.448000 88 21 0 0 0.00121646 0 0 MYH1 4619 broad.mit.edu 37 17 10408281 10408281 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:10408281C>T uc002gmo.3 - 21 2631 c.2537G>A c.(2536-2538)aGt>aAt p.S846N AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 846 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGTCTCTGCACTTTTGAGGAG 0.463000 72 32 0 0 0.00209593 0 0 OR6N2 81442 broad.mit.edu 37 1 158747395 158747395 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:158747395C>T uc010pir.2 - 0 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) AACACAAATTCAGCCAGGCTT 0.463000 36 13 0 0 0.00136819 0 0 SYT2 127833 broad.mit.edu 37 1 202566006 202566006 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:202566006G>A uc001gye.3 - 8 1332 c.1139C>T c.(1138-1140)gCc>gTc p.A380V SYT2_uc010pqb.2_Missense_Mutation_p.A380V|SYT2_uc009xaf.3_Missense_Mutation_p.A210V NM_001136504 NP_796376 Q8N9I0 SYT2_HUMAN Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA. 380 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TGTGCCCGTGGCATTGCTGCC 0.602000 62 14 0 0 0.00185496 0 0 CACNG5 27091 broad.mit.edu 37 17 64876763 64876763 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:64876763C>T uc010wqi.2 + 3 610 c.373C>T c.(373-375)Ccc>Tcc p.P125S CACNG5_uc010wqj.2_Missense_Mutation_p.P125S NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 125 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity p.R124R(1) NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) ACACATCCGTCCCCACCGGAC 0.453000 143 46 0 0 0.000781405 0 0 GOLGB1 2804 broad.mit.edu 37 3 121448123 121448123 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:121448123G>A uc010hrc.3 - 3 440 c.314C>T c.(313-315)aCt>aTt p.T105I GOLGB1_uc003eei.4_Missense_Mutation_p.T105I|GOLGB1_uc003eej.4_Missense_Mutation_p.T66I|GOLGB1_uc021xcy.1_Missense_Mutation_p.T66I|GOLGB1_uc011bjm.1_Missense_Mutation_p.T66I|GOLGB1_uc010hrd.1_Missense_Mutation_p.T105I NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 105 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ATTCAAAGAAGTTAATTTGGC 0.368000 72 30 0 0 0.00127121 0 0 LRP1B 53353 broad.mit.edu 37 2 141819768 141819768 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:141819768C>T uc002tvj.1 - 7 2060 c.1088G>A c.(1087-1089)aGg>aAg p.R363K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 363 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.R363S(1)|p.R363R(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) ATCAATTATCCTTGTTCGGTT 0.408000 TSP Lung(27;0.18) 57 19 0 0 0.00152264 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064434 78064434 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:78064434C>T uc002ffh.4 + 2 371 c.290C>T c.(289-291)tCc>tTc p.S97F CLEC3A_uc021tlr.1_Missense_Mutation_p.S45F NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 97 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GACTGCATTTCCAAAGGAGGA 0.473000 49 22 0 0 0.00229938 0 0 ZNF652 22834 broad.mit.edu 37 17 47390188 47390188 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:47390188G>A uc002iov.4 - 2 1384 c.920C>T c.(919-921)tCg>tTg p.S307L ZNF652_uc002iow.3_Missense_Mutation_p.S307L|ZNF652_uc002iou.4_Non-coding_Transcript NM_001145365 NP_055712 Q9Y2D9 ZN652_HUMAN Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA. 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TTTCTTGAACGATTTGTTACA 0.393000 90 27 0 0 0.00127121 0 0 WIPI2 26100 broad.mit.edu 37 7 5269331 5269331 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:5269331G>A uc003snv.3 + 11 1430 c.1214G>A c.(1213-1215)gGa>gAa p.G405E WIPI2_uc003snw.3_Missense_Mutation_p.G405E|WIPI2_uc003snx.3_Missense_Mutation_p.G387E|WIPI2_uc003sny.3_Missense_Mutation_p.G387E|WIPI2_uc010ksv.3_Missense_Mutation_p.G261E|WIPI2_uc003soa.3_Missense_Mutation_p.G346E NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA. 405 autophagic vacuole assembly PAS complex|cytosol|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) GCAGCTGCAGGAAAAGGTACT 0.567000 31 7 0 0 0.000157383 0 0 RFWD2 64326 broad.mit.edu 37 1 175956239 175956239 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:175956239C>T uc001gku.1 - 18 2229 c.1973_splice c.e18-1 p.G658_splice RFWD2_uc001gkv.1_Splice_Site_p.G634_splice|RFWD2_uc001gkw.1_Splice_Site_p.G418_splice|RFWD2_uc009wwv.2_Splice_Site_p.G457_splice|RFWD2_uc001gkt.1_Splice_Site_p.G497_splice NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA. 658 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ATTTTCACTTCCTGAAAACAA 0.303000 34 9 0 0 0.000442599 0 0 MYT1L 23040 broad.mit.edu 37 2 1795710 1795710 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:1795710G>A uc002qxe.3 - 24 4317 c.3490C>T c.(3490-3492)Cgt>Tgt p.R1164C MYT1L_uc002qxd.3_Missense_Mutation_p.R1162C|MYT1L_uc010ewk.3_Missense_Mutation_p.R162C NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 1164 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTCTGATAACGATCTTGATTT 0.363000 56 26 0 0 0.000586117 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729993 37729993 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:37729993G>A uc003xkm.2 - 3 2383 c.2327C>T c.(2326-2328)cCc>cTc p.P776L RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P105L|RAB11FIP1_uc003xko.1_Missense_Mutation_p.P105L|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 776 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TGCTCCCATGGGAAGAGGGGG 0.557000 69 15 0 0 0.000566183 0 0 TTLL3 26140 broad.mit.edu 37 3 9839372 9839372 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:9839372C>T uc003btd.4 + 1 607 c.33C>T c.(31-33)gcC>gcT p.A11A TTLL3_uc003btb.2_5'UTR|TTLL3_uc003bta.2_5'UTR|TTLL3_uc003bsz.2_Silent_p.A11A|TTLL3_uc003btc.2_5'UTR|TTLL3_uc021wsu.1_Silent_p.A30A NM_001198793 NP_001185722 Q9Y4R7 TTLL3_HUMAN Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA. 0 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) ACCTGAGTGCCGTGCGGGCCA 0.552000 72 25 0 0 0.00106085 0 0 USP6 9098 broad.mit.edu 37 17 5048111 5048111 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:5048111G>A uc002gau.1 + 25 4175 c.1945G>A c.(1945-1947)Gaa>Aaa p.E649K USP6_uc002gav.1_Missense_Mutation_p.E649K|USP6_uc010ckz.1_Missense_Mutation_p.E332K NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 649 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GCCATATGTGGAACTGAAGGA 0.443000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 81 32 0 0 0.00209593 0 0 ALLC 55821 broad.mit.edu 37 2 3749980 3749980 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:3749980G>A uc010ewt.3 + 11 1164 c.1003G>A c.(1003-1005)Gat>Aat p.D335N ALLC_uc002qyf.3_Missense_Mutation_p.D106N NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA. 354 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TCATCTGTTCGATAGCCTGAC 0.592000 HNSCC(21;0.051) 17 9 0 0 0.000442599 0 0 RFC2 5982 broad.mit.edu 37 7 73653299 73653299 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:73653299G>A uc003uaj.3 - 7 738 c.713C>T c.(712-714)tCc>tTc p.S238F RFC2_uc003uak.3_Missense_Mutation_p.S204F NM_181471 NP_852136 P35250 RFC2_HUMAN Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA. 238 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 TGAGAAGGTGGACTGCAGGTT 0.468000 39 11 0 0 0.00136819 0 0 RP1 6101 broad.mit.edu 37 8 55534763 55534763 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:55534763C>T uc003xsd.1 + 2 850 c.702C>T c.(700-702)atC>atT p.I234I RP1_uc011ldy.1_Silent_p.I234I NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 234 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) ATTATGACATCCAAAAATACT 0.478000 48 19 0 0 0.00074312 0 0 TRIML1 339976 broad.mit.edu 37 4 189063519 189063519 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:189063519G>A uc003izm.1 + 2 733 c.618G>A c.(616-618)gaG>gaA p.E206E TRIML1_uc003izn.1_5'Flank NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 206 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AAGAGAAAGAGAACATGAGGA 0.448000 59 20 0 0 0.00121646 0 0 MCHR2 84539 broad.mit.edu 37 6 100382356 100382356 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:100382356G>A uc003pqh.1 - 4 940 c.625C>T c.(625-627)Cct>Tct p.P209S MCHR2_uc003pqi.1_Missense_Mutation_p.P209S NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 209 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AAGGGTAGAGGGAAAAAAAAA 0.338000 71 29 0 0 0.00127121 0 0 TMEM63C 57156 broad.mit.edu 37 14 77715719 77715719 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:77715719C>T uc001xtf.2 + 20 2168 c.1956C>T c.(1954-1956)atC>atT p.I652I TMEM63C_uc010asq.1_Silent_p.I652I NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 652 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) ACGAGCAGATCCACATGGCTG 0.547000 57 30 0 0 0.00178596 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A G G rs112443847 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:72821618A>G uc002fck.3 - 9 11230 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.G2605G NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(6) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 23 3 0 0 0.00024832 0 0 C3orf25 90288 broad.mit.edu 37 3 129140317 129140317 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:129140317C>T uc003emg.3 - 1 542 c.379G>A c.(379-381)Gag>Aag p.E127K NM_207307 NP_997190 Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2) 23 GGCTTGTTCTCCAGCCACCTC 0.567000 60 23 0 0 0.00188189 0 0 HECW2 57520 broad.mit.edu 37 2 197185159 197185159 + Nonsense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:197185159G>A uc002utm.1 - 7 1072 c.889C>T c.(889-891)Caa>Taa p.Q297* HECW2_uc002utl.1_Intron NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 297 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTGAGCATTTGATCACTGCAA 0.507000 23 8 0 0 0.000442599 0 0 SMEK2 57223 broad.mit.edu 37 2 55808763 55808763 + Silent SNP A T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:55808763A>T uc002rzc.3 - 7 1997 c.1305T>A c.(1303-1305)gtT>gtA p.V435V SMEK2_uc002rzb.3_Silent_p.V435V|SMEK2_uc002rzd.3_Silent_p.V435V|SMEK2_uc002rza.3_Silent_p.V311V NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 435 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CCATTAACTGAACAGCGCCTC 0.368000 73 30 0 0 0.001512 0 0 ACTA1 58 broad.mit.edu 37 1 229567343 229567343 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:229567343G>A uc001htm.3 - 6 1142 c.1037C>T c.(1036-1038)tCc>tTc p.S346F NM_001100 NP_001091 P68133 ACTS_HUMAN Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA. 346 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGCCAGGATGGAGCCGCCGAT 0.637000 83 28 0 0 0.00283554 0 0 CDH6 1004 broad.mit.edu 37 5 31299677 31299677 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr5:31299677G>A uc003jhe.2 + 4 1110 c.750G>A c.(748-750)ggG>ggA p.G250G CDH6_uc003jhd.2_Silent_p.G250G NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 250 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding 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 GATTATCTGGGACCACCACCG 0.483000 59 21 0 0 0.00121646 0 0 PRB3 5544 broad.mit.edu 37 12 11420800 11420800 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:11420800C>T uc001qzs.3 - 2 421 c.383G>A c.(382-384)gGa>gAa p.G128E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 128 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGACTGGTTTCCTCCTTGTGG 0.642000 105 53 0 0 0.000781405 0 0 FAM75C1 441452 broad.mit.edu 37 9 90537935 90537935 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:90537935C>T uc010mqi.3 + 3 3142 c.3113C>T c.(3112-3114)aCt>aTt p.T1038I FAM75C1_uc004apq.4_Missense_Mutation_p.T1021I|DQ578031_uc022bjg.1_5'Flank NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. GCACCAGTCACTGCTGAGAGC 0.443000 30 26 0 0 0.000878237 0 0 COL9A1 1297 broad.mit.edu 37 6 70966489 70966489 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:70966489C>T uc003pfg.4 - 20 1644 c.1485G>A c.(1483-1485)caG>caA p.Q495Q COL9A1_uc003pfe.4_Silent_p.Q68Q|COL9A1_uc003pff.4_Silent_p.Q252Q NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 495 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CAGGAAGACCCTGAGGCCCAG 0.403000 46 11 0 0 0.000978159 0 0 CAMK2B 816 broad.mit.edu 37 7 44266118 44266118 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr7:44266118G>A uc003tkq.2 - 19 1804 c.1594C>T c.(1594-1596)Cca>Tca p.P532S CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Missense_Mutation_p.P165S NM_001220 NP_001211 Q13554 KCC2B_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA. 532 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TACTTACATGGGGTGGGCAGG 0.711000 15 6 0 0 0.00198382 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 45 16 0 0 0.000566183 0 0 TP63 8626 broad.mit.edu 37 3 189526267 189526267 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:189526267C>T uc003fry.2 + 3 620 c.531C>T c.(529-531)ttC>ttT p.F177F TP63_uc003frx.2_Silent_p.F177F|TP63_uc003frz.2_Silent_p.F177F|TP63_uc010hzc.1_Silent_p.F177F|TP63_uc003fsa.2_Silent_p.F83F|TP63_uc003fsb.2_Silent_p.F83F|TP63_uc003fsc.2_Silent_p.F83F|TP63_uc003fsd.2_Silent_p.F83F|TP63_uc021xir.1_Silent_p.F83F|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.F58F NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 177 F -> S (in Ref. 1; BAA32433). DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F177F(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CGCACAGTTTCGACGTGTCCT 0.652000 HNSCC(45;0.13) 41 12 0 0 0.00185496 0 0 MAPK4 5596 broad.mit.edu 37 18 48252450 48252450 + Silent SNP A C C TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:48252450A>C uc002lev.3 + 4 1972 c.972A>C c.(970-972)tcA>tcC p.S324S MAPK4_uc010xdm.2_Silent_p.S113S|MAPK4_uc010doz.3_Intron NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 324 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) AGCCCACCTCACAACACCCCT 0.577000 48 19 0 0 0.00074312 0 0 DNTT 1791 broad.mit.edu 37 10 98084132 98084132 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:98084132G>A uc001kmf.3 + 5 1030 c.860G>A c.(859-861)cGa>cAa p.R287Q DNTT_uc001kmg.3_Missense_Mutation_p.R287Q NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 287 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AAATTTACACGAATGCAGAAA 0.453000 75 30 0 0 0.00127121 0 0 NAALAD2 10003 broad.mit.edu 37 11 89892432 89892432 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:89892432G>A uc001pdf.4 + 7 1025 c.916G>A c.(916-918)Gat>Aat p.D306N NAALAD2_uc009yvx.3_Intron|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 306 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGCTCCACCAGATAAGAGTTG 0.373000 49 13 0 0 0.000308642 0 0 CHI3L1 1116 broad.mit.edu 37 1 203150322 203150322 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:203150322C>T uc001gzi.2 - 6 850 c.679G>A c.(679-681)Gag>Aag p.E227K CHI3L1_uc001gzk.1_Missense_Mutation_p.E24K|CHI3L1_uc001gzj.2_Missense_Mutation_p.E227K|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA. 227 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CTTGCATCCTCCTGACCTCGG 0.572000 90 28 0 0 0.00209593 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499762 104499762 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:104499762G>A uc004bbp.2 - 0 1101 c.500C>T c.(499-501)tCc>tTc p.S167F GRIN3A_uc004bbq.1_Missense_Mutation_p.S167F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 167 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACTAGGGGAGGAGAAGGGCAA 0.597000 27 11 0 0 0.000978159 0 0 MAGI1 9223 broad.mit.edu 37 3 65367622 65367622 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:65367622G>A uc003dmn.3 - 15 3157 c.2631C>T c.(2629-2631)gtC>gtT p.V877V MAGI1_uc003dmm.3_Silent_p.V905V|MAGI1_uc003dmo.3_Silent_p.V905V|MAGI1_uc003dmp.3_Silent_p.V877V|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Silent_p.V188V NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 905 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GCATAAGCTGGACCACAAGCT 0.502000 69 17 0 0 0.00074312 0 0 PLEKHN1 84069 broad.mit.edu 37 1 905948 905948 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:905948C>T uc001ace.3 + 3 413 c.378C>T c.(376-378)ttC>ttT p.F126F PLEKHN1_uc001acd.3_Silent_p.F126F|PLEKHN1_uc001acf.3_Silent_p.F126F NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 126 PH 1. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACCTGTACTTCCAGGCCCACG 0.657000 48 12 0 0 0.00244969 0 0 HAP1 9001 broad.mit.edu 37 17 39887995 39887995 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:39887995C>T uc002hxm.1 - 5 909 c.897_splice c.e5-1 p.L299_splice JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Splice_Site_p.L299_splice|HAP1_uc002hxo.1_Splice_Site_p.L307_splice|HAP1_uc002hxp.1_Splice_Site_p.L299_splice NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 299 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCTGCGAAATCCTAGGGGAGG 0.592000 31 8 0 0 0.000157383 0 0 SERPINF2 5345 broad.mit.edu 37 17 1650748 1650748 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:1650748C>T uc002ftk.1 + 6 734 c.657C>T c.(655-657)ttC>ttT p.F219F SERPINF2_uc010vqr.1_Silent_p.F155F|SERPINF2_uc021tnm.1_Silent_p.F219F NM_000934 NP_001159392 P08697 A2AP_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA. 219 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) TTCAGGAATTCCTCTCTGGGC 0.587000 17 9 0 0 0.000274275 0 0 EEF1A2 1917 broad.mit.edu 37 20 62126410 62126410 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:62126410G>A uc002yfe.1 - 3 535 c.369C>T c.(367-369)ttC>ttT p.F123F NM_001958 NP_001949 Q05639 EF1A2_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. 123 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TGCCCGCCTCGAACTCGCCCA 0.677000 67 25 0 0 0.000720815 0 0 C11orf35 256329 broad.mit.edu 37 11 555754 555754 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:555754C>T uc001lpx.3 - 11 1617 c.1554G>A c.(1552-1554)cgG>cgA p.R518R AX748330_uc001lpy.3_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA. 518 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCGACTGACCCGGGGCTCCC 0.766000 10 3 0 0 6.4e-05 0 0 SH2D7 646892 broad.mit.edu 37 15 78390328 78390328 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:78390328C>T uc010blb.1 + 2 324 c.324C>T c.(322-324)atC>atT p.I108I NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN Homo sapiens SH2 domain containing 7 (SH2D7), mRNA. 108 SH2. endometrium(2)|kidney(2)|lung(3) 7 GGCGTTACATCATCTCAGGAG 0.572000 33 13 0 0 0.000308642 0 0 SLC4A4 8671 broad.mit.edu 37 4 72425854 72425854 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:72425854C>T uc010iic.3 + 22 3099 c.2982C>T c.(2980-2982)ttC>ttT p.F994F SLC4A4_uc003hfy.3_Silent_p.F994F|SLC4A4_uc010iib.3_Silent_p.F910F|SLC4A4_uc003hfz.3_Silent_p.F994F|SLC4A4_uc003hgc.4_Silent_p.F950F|SLC4A4_uc010iid.3_Silent_p.F198F NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 994 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ACTACCTCTTCTCCCAGCACG 0.418000 111 36 0 0 0.000692331 0 0 WASF2 10163 broad.mit.edu 37 1 27736342 27736343 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:27736342_27736343GG>AA uc001bof.2 - 7 1407_1408 c.1182_1183CC>TT c.(1180-1185)ccccct>ccTTct p.P395S WASF2_uc010ofl.2_Intron NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA. 395 Poly-Pro. G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) ggaggaggagggggaggaggag 0.639000 37 15 0 0 6.4e-05 0 0 CENPE 1062 broad.mit.edu 37 4 104070357 104070357 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr4:104070357C>T uc003hxb.1 - 26 3695 c.3605G>A c.(3604-3606)aGa>aAa p.R1202K CENPE_uc003hxc.1_Missense_Mutation_p.R1177K NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 1202 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity p.E1201*(1) NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TAGAACTTTTCTTTCTTTGGT 0.333000 81 24 0 0 0.00229938 0 0 RHPN1 114822 broad.mit.edu 37 8 144463809 144463809 + Missense_Mutation SNP G T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:144463809G>T uc003yyb.3 + 12 1689 c.1556G>T c.(1555-1557)gGa>gTa p.G519V NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA. 544 signal transduction intracellular p.R518R(1) endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CTGACCCGAGGAGAGGGCGGC 0.711000 34 6 8.12818e-05 0.000375522 0.00198382 1 0 GCOM1 145781 broad.mit.edu 37 15 58001015 58001015 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:58001015G>A uc002aet.4 + 1 357 c.217G>A c.(217-219)Gaa>Aaa p.E73K GCOM1_uc002aem.3_Intron|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Intron|GCOM1_uc002aev.1_3'UTR|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aeu.4_Intron NM_015532 NP_056347 P0CAP1 GCOM1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide M (POLR2M), transcript variant 1, mRNA. 370 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AAGAAAAAGTGAACTGTTTAA 0.388000 72 29 0 0 0.000878237 0 0 PXDNL 137902 broad.mit.edu 37 8 52321683 52321683 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:52321683G>A uc003xqu.4 - 16 2602 c.2501C>T c.(2500-2502)tCc>tTc p.S834F PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 834 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTGCAGACGGAGCTGCACGG 0.677000 22 6 0 0 0.00116845 0 0 CCDC18 343099 broad.mit.edu 37 1 93724338 93724338 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:93724338G>A uc021opx.1 + 25 3741 c.3580G>A c.(3580-3582)Ggg>Agg p.G1194R CCDC18_uc001dpr.1_Missense_Mutation_p.G107R NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA. 1193 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TGAAGAACTGGGGGCTTCTAA 0.333000 49 16 0 0 0.00074312 0 0 OR8I2 120586 broad.mit.edu 37 11 55861627 55861627 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:55861627C>T uc010rix.2 + 0 844 c.844C>T c.(844-846)Ccc>Tcc p.P282S NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GATTGTCATTCCCATGCTGAA 0.393000 39 18 0 0 0.00074312 0 0 ITGA5 3678 broad.mit.edu 37 12 54798248 54798248 + Missense_Mutation SNP C A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr12:54798248C>A uc001sga.3 - 13 1497 c.1429G>T c.(1429-1431)Ggg>Tgg p.G477W NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 477 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.G477G(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCAAAGGACCCCACAATCAGA 0.498000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 373 8 0.000442599 0.00203802 0.000442599 1 0 C3orf32 51066 broad.mit.edu 37 3 8667281 8667281 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:8667281C>T uc011atg.2 - 9 860 c.820G>A c.(820-822)Gag>Aag p.E274K C3orf32_uc003bqz.3_Missense_Mutation_p.E252K|C3orf32_uc003bqt.3_Missense_Mutation_p.E201K|C3orf32_uc003bqu.3_Missense_Mutation_p.E252K|C3orf32_uc003bqv.3_Missense_Mutation_p.E201K|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.E252K NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA. 252 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 14 GCAAGGAGCTCCCTGGGGCAG 0.507000 51 17 0 0 0.000958276 0 0 PTAFR 5724 broad.mit.edu 37 1 28477362 28477362 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:28477362C>T uc009vte.3 - 2 506 c.171G>A c.(169-171)gtG>gtA p.V57V PTAFR_uc021ojz.1_Silent_p.V57V|PTAFR_uc001bpl.3_Silent_p.V57V|PTAFR_uc001bpm.4_Silent_p.V57V|PTAFR_uc021oka.1_Silent_p.V57V NM_001164721 NP_001158195 P25105 PTAFR_HUMAN Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA. 57 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGAGGTTCACCATGAAGA 0.488000 38 14 0 0 0.00244969 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401601 77401601 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr16:77401601C>T uc002ffc.4 - 3 934 c.515G>A c.(514-516)cGa>cAa p.R172Q ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 172 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R172Q(2)|p.R172G(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTCATTTTTTCGTGTCCTTAT 0.463000 40 8 0 0 0.000274275 0 0 KCNT1 57582 broad.mit.edu 37 9 138671233 138671233 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr9:138671233G>A uc011mdq.2 + 23 2832 c.2758G>A c.(2758-2760)Gag>Aag p.E920K KCNT1_uc011mdr.2_Missense_Mutation_p.E747K|KCNT1_uc010nbf.3_Missense_Mutation_p.E875K|KCNT1_uc004cgo.1_Missense_Mutation_p.E669K NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 920 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CATCACCACGGAGCTCACCCA 0.632000 103 32 0 0 0.000692331 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527578 70527578 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:70527578C>T uc001xly.3 - 2 2617 c.1863G>A c.(1861-1863)ccG>ccA p.P621P SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.P621P|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Silent_p.P621P|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 621 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCATCCATTTCGGTTCACCAA 0.343000 70 18 0 0 0.00152264 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972687 92972687 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr8:92972687C>T uc022axs.1 - 11 1962 c.1775G>A c.(1774-1776)cGa>cAa p.R592Q RUNX1T1_uc003yfc.2_Missense_Mutation_p.R506Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.R506Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R496Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R533Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.R533Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.R506Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R544Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.R513Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.R533Q|RUNX1T1_uc010man.2_Missense_Mutation_p.R158Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R496Q NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 533 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GCCACAGTATCGGGCTGTGTT 0.522000 60 15 0 0 0.000308642 0 0 FAM190B 54462 broad.mit.edu 37 10 86237419 86237419 + Splice_Site SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:86237419C>T uc010qmd.1 + 9 2519 c.2325_splice c.e9+1 p.P775_splice FAM190B_uc001kdh.1_Splice_Site_p.P775_splice|FAM190B_uc001kdi.1_Splice_Site|FAM190B_uc010qme.1_Splice_Site_p.P202_splice Q9H7U1 F190B_HUMAN Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA. 775 NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 AGACGAATTCCTGTAAGTAAC 0.358000 15 6 0 0 0.00116845 0 0 WASH3P 374666 broad.mit.edu 37 15 102515282 102515282 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr15:102515282G>A uc002cdi.3 + 8 1926 c.506G>A c.(505-507)cGc>cAc p.R169H WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GAGTCCATCCGCCAAGCTGGG 0.652000 10 5 0 0 0.000274275 0 0 PSENEN 55851 broad.mit.edu 37 19 36237720 36237720 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:36237720C>T uc002obi.1 + 3 482 c.278C>T c.(277-279)tCc>tTc p.S93F IGFLR1_uc010eej.3_5'Flank|U2AF1L4_uc002obe.3_5'Flank|U2AF1L4_uc002obf.3_5'Flank|U2AF1L4_uc002obg.3_5'Flank|U2AF1L4_uc002obh.1_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.S93F|PSENEN_uc002obk.1_Intron|LIN37_uc021usw.1_5'Flank NM_172341 NP_758844 Q9NZ42 PEN2_HUMAN Homo sapiens presenilin enhancer 2 homolog (C. elegans) (PSENEN), mRNA. 93 Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane aspartic-type endopeptidase activity|protein binding central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACTACCTCTCCTTCACCATA 0.592000 48 12 0 0 0.00185496 0 0 ASAH2 56624 broad.mit.edu 37 10 52005144 52005144 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:52005144G>A uc001jjd.3 - 1 198 c.198C>T c.(196-198)cgC>cgT p.R66R ASAH2_uc009xos.3_Silent_p.R66R NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 66 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 TGGCTGTGGAGCGTTGGGCAG 0.502000 49 16 0 0 0.000566183 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68028972 68028972 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:68028972C>T uc001xjl.1 + 6 766 c.624C>T c.(622-624)gcC>gcT p.A208A NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA. 208 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GCTCCCAGGCCCAGGGTCTGA 0.612000 21 6 0 0 0.00116845 0 0 RYR1 6261 broad.mit.edu 37 19 38937180 38937180 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:38937180C>T uc002oit.3 + 7 830 c.700C>T c.(700-702)Cct>Tct p.P234S RYR1_uc002oiu.3_Missense_Mutation_p.P234S NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 234 MIR 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GACCATTTCCCCTGCTGACAG 0.592000 41 16 0 0 0.000958276 0 0 SCML2 10389 broad.mit.edu 37 X 18338476 18338476 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:18338476C>T uc004cyl.2 - 5 619 c.462G>A c.(460-462)atG>atA p.M154I SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.M154I|SCML2_uc011miz.1_Missense_Mutation_p.M88I NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 154 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TGGCAGATGCCATTTCAGACC 0.343000 27 28 0 0 0.00127121 0 0 CRLF2 64109 broad.mit.edu 37 X 1317494 1317494 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:1317494C>T uc004cpk.2 - 4 573 c.571G>A c.(571-573)Gag>Aag p.E191K CRLF2_uc022brt.1_Missense_Mutation_p.E191K|CRLF2_uc004cpl.2_Missense_Mutation_p.E79K|CRLF2_uc022brs.1_Missense_Mutation_p.E191K NM_022148 NP_071431 Q9HC73 CRLF2_HUMAN Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA. 191 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TATACATCCTCCATAGCCTTC 0.507000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 78 18 0 0 0.000958276 0 0 DHCR7 1717 broad.mit.edu 37 11 71148959 71148959 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:71148959C>T uc001oqk.3 - 7 1112 c.862G>A c.(862-864)Gaa>Aaa p.E288K DHCR7_uc001oql.3_Missense_Mutation_p.E288K NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 288 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) TACCAGGTTTCGTTCCAGAAG 0.587000 Smith-Lemli-Opitz syndrome 64 30 0 0 0.00127121 0 0 ADCY3 109 broad.mit.edu 37 2 25141736 25141737 + Missense_Mutation DNP GG AA AA TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:25141736_25141737GG>AA uc010ykm.2 - 0 319_320 c.120_121CC>TT c.(118-123)gtccgg>gtTTgg p.R41W ADCY3_uc002rfs.4_Missense_Mutation_p.R41W NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 41 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCCGAGTTCCGGACCGAGATTT 0.634000 40 10 0 0 6.4e-05 0 0 IL1F10 84639 broad.mit.edu 37 2 113832373 113832373 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:113832373G>A uc002tiu.3 + 3 267 c.192G>A c.(190-192)ggG>ggA p.G64G IL1F10_uc002tiv.3_Silent_p.G64G|IL1F10_uc002tiw.3_Silent_p.G56G NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA. 64 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TCCAGGGAGGGAGCCGCTGCC 0.587000 47 19 0 0 0.000958276 0 0 PADI1 29943 broad.mit.edu 37 1 17531743 17531743 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:17531743C>T uc001bah.1 + 0 123 c.31C>T c.(31-33)Ctg>Ttg p.L11L NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 11 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GCAGCTGTCCCTGAAGATGCC 0.612000 25 10 0 0 0.000978159 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647858 121647858 + Silent SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:121647858G>A uc003eep.2 + 15 1524 c.1371G>A c.(1369-1371)ctG>ctA p.L457L SLC15A2_uc011bjn.1_Silent_p.L426L NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 457 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AACTGCACCTGAAAACAAAAA 0.393000 122 40 0 0 0.00170553 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564304 46564305 + Missense_Mutation DNP CC TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:46564304_46564305CC>TT uc001ncv.2 - 7 1306_1307 c.992_993GG>AA c.(991-993)cgg>cAA p.R331Q AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.R421Q|AMBRA1_uc001ncu.1_Missense_Mutation_p.R331Q|AMBRA1_uc010rgu.1_Missense_Mutation_p.R421Q|AMBRA1_uc001ncw.2_Missense_Mutation_p.R331Q|AMBRA1_uc001ncx.2_Missense_Mutation_p.R421Q NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 403 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TGAGTACTGTCCGGGTCCACTC 0.594000 75 28 0 0 6.4e-05 0 0 KCNT2 343450 broad.mit.edu 37 1 196577363 196577363 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:196577363C>T uc001gtd.1 - 0 137 c.77G>A c.(76-78)gGa>gAa p.G26E KCNT2_uc001gte.1_Missense_Mutation_p.G26E|KCNT2_uc001gtf.1_Missense_Mutation_p.G26E|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.G26E|KCNT2_uc009wyv.1_Missense_Mutation_p.G26E NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 26 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GTTTTGCCATCCTTGGTCCCC 0.517000 80 20 0 0 0.00229938 0 0 KIAA2018 205717 broad.mit.edu 37 3 113379677 113379677 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:113379677C>T uc003eam.3 - 6 1263 c.852G>A c.(850-852)aaG>aaA p.K284K KIAA2018_uc003eal.3_Silent_p.K228K NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 284 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTTGTCCATTCTTATTTTCAG 0.423000 53 22 0 0 0.00188189 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433164 72433164 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrX:72433164C>T uc004ebi.3 - 0 1547 c.1165G>A c.(1165-1167)Gat>Aat p.D389N NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 389 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) AGTAAAAAATCATCATTTCCA 0.378000 16 16 0 0 0.000422831 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 71940 71940 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chrGL000209.1:71940C>T uc002qui.2 + 2 101 c.90C>T c.(88-90)ttC>ttT p.F30F KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.F27F|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001083539 NP_001077008 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA. 30 regulation of immune response integral to membrane|plasma membrane receptor activity ACAAGCCCTTCCTGTCTGCCT 0.567000 90 31 0 0 0.00283554 0 0 DDI1 414301 broad.mit.edu 37 11 103908037 103908037 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr11:103908037C>T uc001phr.2 + 0 730 c.487C>T c.(487-489)Cgc>Tgc p.R163C PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA. 163 proteolysis aspartic-type endopeptidase activity p.R163L(1) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GCTCAAGGAACGCAACCCTCC 0.612000 48 9 0 0 0.000442599 0 0 NEK11 79858 broad.mit.edu 37 3 130884308 130884308 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:130884308G>A uc003eny.3 + 11 1447 c.1121G>A c.(1120-1122)cGa>cAa p.R374Q NEK11_uc003enx.3_Missense_Mutation_p.R374Q|NEK11_uc003eoa.3_Missense_Mutation_p.R374Q|NEK11_uc003enz.3_Missense_Mutation_p.R192Q|NEK11_uc011blk.2_Missense_Mutation_p.R226Q|NEK11_uc011bll.2_Missense_Mutation_p.R269Q|NEK11_uc011blm.2_Missense_Mutation_p.R374Q NM_024800 NP_079076 Q8NG66 NEK11_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA. 374 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 AATAGCAAACGAATGCAAGAA 0.299000 28 7 0 0 0.000274275 0 0 ACPL2 92370 broad.mit.edu 37 3 140979071 140979071 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:140979071C>T uc003etu.3 + 3 353 c.54C>T c.(52-54)gcC>gcT p.A18A ACPL2_uc003etv.3_Silent_p.A18A|ACPL2_uc011bna.2_5'UTR|ACPL2_uc011bnb.2_5'Flank NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA. 18 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CGCTGCTGGCCTTTGTGAGCC 0.547000 71 17 0 0 0.00188189 0 0 ITSN2 50618 broad.mit.edu 37 2 24438982 24438982 + Missense_Mutation SNP A G G TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr2:24438982A>G uc002rfe.2 - 31 4184 c.3926T>C c.(3925-3927)cTt>cCt p.L1309P ITSN2_uc002rff.2_Missense_Mutation_p.L1282P NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA. 1309 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTCCATTAAGCTGGCAGCT 0.517000 59 17 0 0 0.000422831 0 0 C8B 732 broad.mit.edu 37 1 57422541 57422541 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:57422541C>T uc001cyp.3 - 2 359 c.292G>A c.(292-294)Gaa>Aaa p.E98K C8B_uc010oon.2_Missense_Mutation_p.E36K|C8B_uc010ooo.2_Missense_Mutation_p.E46K NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 98 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.G97W(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TTGCACGGTTCCCCATGGAAC 0.522000 112 39 0 0 0.000814825 0 0 C1orf150 148823 broad.mit.edu 37 1 247737544 247737544 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:247737544G>A uc001idf.3 + 4 415 c.268G>A c.(268-270)Gag>Aag p.E90K C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 90 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGATGGCTATGAGAACATTGA 0.458000 62 20 0 0 0.000958276 0 0 CEP70 80321 broad.mit.edu 37 3 138219316 138219317 + Silent DNP GG TT TT TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:138219316_138219317GG>TT uc003esl.3 - 14 1659_1660 c.1461_1462CC>AA c.(1459-1464)ccccga>ccAAga p.487_488PR>PR CEP70_uc011bmk.2_Silent_p.467_468PR>PR|CEP70_uc011bml.2_Silent_p.469_470PR>PR|CEP70_uc011bmm.2_Silent_p.335_336PR>PR|CEP70_uc003esm.3_Silent_p.487_488PR>PR NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 487 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding p.R488R(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TCATTCATTCGGGGATAGACTC 0.376000 483 10 0 0 6.4e-05 0 0 APOC4 346 broad.mit.edu 37 19 45452559 45452559 + RNA SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:45452559C>T uc002pah.3 + 5 c.1566C>T APOC4_uc021uvn.1_Non-coding_Transcript NM_001646 P55056 APOC4_HUMAN Homo sapiens apolipoprotein C-IV (APOC4), mRNA. lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1)|endometrium(1)|lung(2) 4 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) TCCCCTGATCCCCCAGGTTCA 0.498000 70 25 0 0 0.00278032 0 0 TULP1 7287 broad.mit.edu 37 6 35477481 35477481 + Silent SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:35477481C>T uc003okv.4 - 6 660 c.648G>A c.(646-648)gcG>gcA p.A216A TULP1_uc003okw.4_Silent_p.A163A|TULP1_uc021yyx.1_Silent_p.A216A|TULP1_uc021yyy.1_Silent_p.A216A NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 216 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GGCTCTTCCTCGCACTGGCTG 0.602000 72 21 0 0 0.00188189 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808853 18808853 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:18808853G>A uc001bax.3 + 0 1430 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K KLHDC7A_uc009vpg.3_Missense_Mutation_p.E242K NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 460 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGTGATGAGCGAAAACTACCT 0.642000 80 27 0 0 0.00106085 0 0 SLC12A5 57468 broad.mit.edu 37 20 44675062 44675062 + Nonsense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr20:44675062C>T uc010zxl.1 + 13 1919 c.1843C>T c.(1843-1845)Cga>Tga p.R615* SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Nonsense_Mutation_p.R592* NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 615 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) GCCACGCTTTCGATATTACCA 0.552000 49 13 0 0 0.000422831 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053780 95053780 + Missense_Mutation SNP G A A TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:95053780G>A uc001ydm.2 + 2 291 c.81G>A c.(79-81)atG>atA p.M27I SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 27 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.M27I(2) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CCCGGGAGATGAAGAAGAGAG 0.612000 58 24 0 0 0.00278032 0 0 RUNX2 860 broad.mit.edu 37 6 45514845 45514845 + Missense_Mutation SNP C T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr6:45514845C>T uc011dvx.2 + 8 1579 c.1369C>T c.(1369-1371)Ccc>Tcc p.P457S RUNX2_uc011dvy.2_Missense_Mutation_p.P435S|RUNX2_uc003oxt.3_Missense_Mutation_p.P443S NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. 457 Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTATCAGTTTCCCATGGTGCC 0.552000 47 20 0 0 0.00121646 0 0 LOC440563 440563 broad.mit.edu 37 1 13183251 13183252 + Frame_Shift_Ins INS - T T TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr1:13183251_13183252insT uc010obg.2 - 1 864_865 c.621_622insA c.(619-624)gaacagfs p.E207fs NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 207 ribonucleoprotein complex nucleic acid binding|nucleotide binding TGTTTGCTCTGTTCCTTTTCAA 0.426 --- 330 --- --- 24 --- TOPBP1 11073 broad.mit.edu 37 3 133374154 133374154 + Frame_Shift_Del DEL A - - TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr3:133374154delA uc003eps.3 - 5 854 c.722delT c.(721-723)ctcfs p.L241fs NM_007027 NP_008958 Q92547 TOPB1_HUMAN Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA. 241 BRCT 2. DNA repair|response to ionizing radiation PML body|microtubule organizing center|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TTGCACAATGAGGTGTGTACA 0.318 Other conserved DNA damage response genes --- 129 --- --- 23 --- RAB11FIP2 22841 broad.mit.edu 37 10 119798647 119798647 + Frame_Shift_Del DEL T - - rs35192242 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr10:119798647delT uc001ldj.2 - 2 1541 c.1101delA c.(1099-1101)aaafs p.K367fs RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.K367fs NM_014904 NP_055719 Q7L804 RFIP2_HUMAN Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA. 367 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) TTCTGCTATCTTTTTTTCCAG 0.343 --- 158 --- --- 33 --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC - - TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr14:99641544_99641546delCTC uc001yga.3 - 3 1894_1896 c.1627_1629delGAG c.(1627-1629)gagdel p.E543del BCL11B_uc001ygb.3_In_Frame_Del_p.E472del NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 543 Glu-rich. nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL --- 5 --- --- 3 --- ZNF624 57547 broad.mit.edu 37 17 16553035 16553037 + In_Frame_Del DEL AAG - - TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr17:16553035_16553037delAAG uc010cpi.2 - 1 114_116 c.22_24delCTT c.(22-24)cttdel p.L8del NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN Homo sapiens zinc finger protein 624 (ZNF624), mRNA. 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCTCTCTGGAAAGAGTGGAGTCT 0.458 --- 62 --- --- 14 --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - GGC GGC rs71338073 TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr18:77623691_77623692insGGC uc010xfl.2 + 0 24_25 c.24_25insGGC c.(22-27)insGGC p.13_14insG NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 13 Poly-Gly. energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 --- 3 --- --- 4 --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA - - TCGA-GN-A263-01A-11D-A196-08 TCGA-GN-A263-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a886914-c217-4c50-87af-f70ce876d4e3 02ba77cc-a07c-4739-a629-920630ae8dcf g.chr19:45911859_45911861delGAA uc002pbr.1 + 2 645_647 c.639_641delGAA c.(637-642)cggaag>cgg p.K219del PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR NM_012099 NP_036231 O15446 RPA34_HUMAN Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA. 217 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway RNA polymerase I transcription factor complex|chromosome DNA-directed RNA polymerase activity p.N218fs*58(2) breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 --- 147 --- --- 7 ---