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 SYT4 6860 broad.mit.edu 37 18 40853629 40853629 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:40853629C>T uc002law.3 - 1 1134 c.765G>A c.(763-765)ggG>ggA p.G255G SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.G237G NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 255 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.I254N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TTAGAACTTCCCCAATGATAT 0.353000 25 18 0 0 0.004990 0 0 SORL1 6653 broad.mit.edu 37 11 121428069 121428069 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:121428069C>T uc001pxx.3 + 18 2747 c.2618C>T c.(2617-2619)tCt>tTt p.S873F NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 873 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTCAATTCCTCTGTGCTTGAT 0.507000 17 36 0 0 0.006999 0 0 OR8D1 283159 broad.mit.edu 37 11 124180299 124180299 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:124180299G>A uc010sag.2 - 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCAACATAGCGATCATATGCC 0.488000 10 9 0 0 0.004482 0 0 STYXL1 51657 broad.mit.edu 37 7 75630321 75630321 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:75630321C>T uc003uel.3 - 8 1041 c.698_splice c.e8-1 p.E233_splice STYXL1_uc003uef.3_Intron|STYXL1_uc011kgg.2_Intron|STYXL1_uc003ueh.3_Splice_Site_p.E95_splice|STYXL1_uc011kgf.2_Intron|STYXL1_uc003uek.4_Splice_Site_p.E137_splice|STYXL1_uc003uem.3_Splice_Site_p.E233_splice|STYXL1_uc010ldg.2_Intron|STYXL1_uc010ldh.2_Splice_Site_p.E233_splice|STYXL1_uc003uen.1_Intron NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA. 233 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 TGGTGAATTTCTGCAAAAAGA 0.557000 60 26 0 0 0.004656 0 0 OR2L13 284521 broad.mit.edu 37 1 248263295 248263295 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248263295C>T uc001ids.3 + 2 955 c.618C>T c.(616-618)ctC>ctT p.L206L OR2L13_uc021pmc.1_Silent_p.L206L NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.L206P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCTCTTTCTCCTTTTCCCTT 0.443000 104 48 0 0 0.003610 0 0 CSE1L 1434 broad.mit.edu 37 20 47707330 47707330 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:47707330C>T uc002xty.3 + 19 2367 c.2233C>T c.(2233-2235)Cac>Tac p.H745Y CSE1L_uc010zyg.2_Missense_Mutation_p.H528Y|CSE1L_uc010ghx.3_Missense_Mutation_p.H689Y|CSE1L_uc010ghy.3_Missense_Mutation_p.H366Y|CSE1L_uc010zyh.2_Missense_Mutation_p.H394Y NM_001316 NP_001307 P55060 XPO2_HUMAN Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA. 745 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGCAAATGACCACCAAGGTTT 0.363000 58 37 0 0 0.004878 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145281530 145281530 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:145281530C>T uc001emn.4 + 3 830 c.460C>T c.(460-462)Cag>Tag p.Q154* NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Nonsense_Mutation_p.Q154*|NOTCH2NL_uc001emo.2_Nonsense_Mutation_p.Q154*|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA. 154 EGF-like 5; calcium-binding (Potential). Notch signaling pathway|cell differentiation|multicellular organismal development cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 AGGACACTGCCAGCATGGTGG 0.562000 840 96 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152275690 152275690 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152275690G>A uc001ezu.1 - 2 11708 c.11672C>T c.(11671-11673)tCt>tTt p.S3891F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3891 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTCCCGAGAAGATCCATG 0.547000 Ichthyosis 64 33 0 0 0.002836 0 0 EIF3B 8662 broad.mit.edu 37 7 2418375 2418375 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:2418375C>T uc003slx.3 + 15 2289 c.2206C>T c.(2206-2208)Cgt>Tgt p.R736C EIF3B_uc003sly.3_Missense_Mutation_p.R736C|EIF3B_uc003sma.3_Missense_Mutation_p.R464C|EIF3B_uc003smb.3_Non-coding_Transcript NM_003751 NP_003742 P55884 EIF3B_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA. 736 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) ACAGAAGGATCGTTTGAGTCA 0.458000 13 18 0 0 0.006122 0 0 HRNR 388697 broad.mit.edu 37 1 152187479 152187479 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152187479G>A uc001ezt.1 - 2 6702 c.6626C>T c.(6625-6627)tCc>tTc p.S2209F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2209 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCACGGCTGGAAGAACGACC 0.597000 464 30 0 0 0.003610 0 0 CCDC101 112869 broad.mit.edu 37 16 28592445 28592445 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:28592445C>T uc002dqf.3 + 1 240 c.55C>T c.(55-57)Cag>Tag p.Q19* NPIPL1_uc010vct.2_Intron NM_138414 NP_612423 Q96ES7 SGF29_HUMAN Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA. 19 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 AGAGCTCCATCAGCTGATCAA 0.547000 18 14 0 0 0.004007 0 0 ZNF318 24149 broad.mit.edu 37 6 43325409 43325409 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:43325409G>A uc003oux.3 - 2 721 c.643C>T c.(643-645)Ccc>Tcc p.P215S ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 215 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCCAAGAAGGGACTGAGAGGC 0.493000 79 64 0 0 0.003610 0 0 FIG4 9896 broad.mit.edu 37 6 110098168 110098168 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:110098168C>T uc003ptt.2 + 15 2009 c.1794C>T c.(1792-1794)ttC>ttT p.F598F FIG4_uc011eau.1_Silent_p.F321F NM_014845 NP_055660 Q92562 FIG4_HUMAN Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA. 598 F -> S (in Ref. 2; BAD96452). cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TGGGAGTTTTCCATCCCACTG 0.363000 7 29 0 0 0.006320 0 0 OR51A4 401666 broad.mit.edu 37 11 4967729 4967729 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4967729C>T uc010qys.2 - 0 602 c.602G>A c.(601-603)gGc>gAc p.G201D NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCAAAAAAGCCATAGATAAC 0.413000 54 7 0 0 0.001855 0 0 PARP9 83666 broad.mit.edu 37 3 122274841 122274841 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:122274841G>A uc010hri.3 - 3 427 c.282C>T c.(280-282)acC>acT p.T94T PARP9_uc003eff.4_Silent_p.T59T|PARP9_uc011bjs.2_Silent_p.T59T|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Silent_p.T59T|PARP9_uc003efh.3_Silent_p.T94T|PARP9_uc003efj.2_Silent_p.T59T NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 94 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GAGAGACCAGGGTAGAGATAC 0.413000 19 16 0 0 0.003163 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808428 18808428 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:18808428C>T uc001bax.3 + 0 1005 c.953C>T c.(952-954)tCc>tTc p.S318F KLHDC7A_uc009vpg.3_Missense_Mutation_p.S100F NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 318 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) GAGGTTCCATCCCCTAGGCCA 0.637000 32 24 0 0 0.002299 0 0 PREX1 57580 broad.mit.edu 37 20 47258999 47258999 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:47258999G>A uc002xtw.1 - 27 3653 c.3630C>T c.(3628-3630)atC>atT p.I1210I PREX1_uc002xtv.1_Silent_p.I507I NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 1210 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding p.R1209R(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGTCAGATGGGATCCGCATGT 0.567000 35 20 0 0 0.003330 0 0 PHLDA1 22822 broad.mit.edu 37 12 76425374 76425374 + Missense_Mutation SNP G C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:76425374G>C uc001sxu.3 - 0 183 c.148C>G c.(148-150)Ccc>Gcc p.P50A PHLDA1_uc021rax.1_Missense_Mutation_p.P50A NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA. 50 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) TCACTGAAGGGCACTGGCCGG 0.721000 7 4 0 0 0.000248 0 0 FAT2 2196 broad.mit.edu 37 5 150922725 150922725 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:150922725G>A uc003lue.4 - 8 7976 c.7963C>T c.(7963-7965)Cag>Tag p.Q2655* NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2655 Cadherin 23. 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) TCAAGGGTCTGATTTTCCAAT 0.473000 31 38 0 0 0.006230 0 0 OR52E4 390081 broad.mit.edu 37 11 5905795 5905795 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:5905795C>T uc010qzs.2 + 0 273 c.273C>T c.(271-273)ctC>ctT p.L91L TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N90K(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTTCAACCTCCAAGAGATCA 0.468000 123 31 0 0 0.002445 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21329726 21329726 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:21329726G>A uc001req.4 + 4 480 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 126 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.E126*(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTATTCTAAAGAAACTAATAT 0.303000 38 18 0 0 0.007413 0 0 TLK2 11011 broad.mit.edu 37 17 60689781 60689781 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:60689781G>A uc010ddp.3 + 22 2442 c.2174G>A c.(2173-2175)cGa>cAa p.R725Q TLK2_uc002izx.4_Missense_Mutation_p.R551Q|TLK2_uc002izz.4_Missense_Mutation_p.R703Q|TLK2_uc002jaa.4_Missense_Mutation_p.R671Q|TLK2_uc010wpd.2_Missense_Mutation_p.R671Q NM_006852 NP_006843 Q86UE8 TLK2_HUMAN Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA. 725 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTGGCCTACCGAAAGGAGGAC 0.537000 51 44 0 0 0.003610 0 0 SLIT2 9353 broad.mit.edu 37 4 20493457 20493457 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:20493457C>T uc003gpr.1 + 8 1053 c.849C>T c.(847-849)atC>atT p.I283I SLIT2_uc003gps.1_Silent_p.I283I NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 283 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCAACAATATCGTAGACTGTC 0.433000 73 52 0 0 0.003610 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156464 70156464 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:70156464G>A uc003hej.3 + 4 1247 c.1245G>A c.(1243-1245)ctG>ctA p.L415L UGT2B28_uc010ihr.3_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 415 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTGTTAGACTGGACTTCCACA 0.438000 85 64 0 0 0.003610 0 0 XDH 7498 broad.mit.edu 37 2 31621532 31621532 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:31621532C>T uc002rnv.1 - 4 419 c.340G>A c.(340-342)Ggg>Agg p.G114R NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 114 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.C113C(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTGCAGAACCCGCACTGGGAG 0.552000 106 34 0 0 0.002836 0 0 MAP3K4 4216 broad.mit.edu 37 6 161523006 161523007 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:161523006_161523007CC>TT uc003qtn.3 + 17 3899_3900 c.3757_3758CC>TT c.(3757-3759)ccc>TTc p.P1253F MAP3K4_uc010kkc.1_Missense_Mutation_p.P1249F|MAP3K4_uc003qto.3_Missense_Mutation_p.P1203F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.P706F|MAP3K4_uc003qtp.3_Missense_Mutation_p.P189F|MAP3K4_uc003qtq.3_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 1253 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCACTCAAGCCCCACGGAGGAG 0.436000 7 18 0 0 0.004672 0 0 OAS1 4938 broad.mit.edu 37 12 113344864 113344864 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:113344864C>T uc001tuc.3 + 0 126 c.20C>T c.(19-21)aCc>aTc p.T7I OAS1_uc010syn.2_Missense_Mutation_p.T6I|OAS1_uc010syo.2_Missense_Mutation_p.T6I|OAS1_uc001tub.3_Missense_Mutation_p.T7I|OAS1_uc001tud.3_Missense_Mutation_p.T7I|OAS1_uc009zwf.3_Missense_Mutation_p.T6I NM_001032409 NP_001027581 P00973 OAS1_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA. 7 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 CTCAGAAATACCCCAGCCAAA 0.473000 63 30 0 0 0.003271 0 0 AUTS2 26053 broad.mit.edu 37 7 70255264 70255264 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:70255264C>T uc003tvw.4 + 18 3797 c.3062C>T c.(3061-3063)tCg>tTg p.S1021L AUTS2_uc003tvx.4_Missense_Mutation_p.S997L|AUTS2_uc011keg.2_Missense_Mutation_p.S473L NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 1021 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCCTGGCCTCGATGCCCATG 0.682000 23 5 0 0 0.000602 0 0 CD226 10666 broad.mit.edu 37 18 67562948 67562948 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:67562948G>A uc010dqo.3 - 2 1163 c.716C>T c.(715-717)aCt>aTt p.T239I CD226_uc002lkm.4_Missense_Mutation_p.T239I|CD226_uc021uli.1_Missense_Mutation_p.T84I NM_006566 NP_006557 Q15762 CD226_HUMAN Homo sapiens CD226 molecule (CD226), mRNA. 239 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) CTCGGCTACAGTCAATCTCAT 0.507000 97 60 0 0 0.003610 0 0 LAMA3 3909 broad.mit.edu 37 18 21330936 21330936 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:21330936C>T uc002kuq.3 + 4 825 c.739C>T c.(739-741)Cac>Tac p.H247Y LAMA3_uc010dlv.2_Missense_Mutation_p.H247Y|LAMA3_uc002kur.3_Missense_Mutation_p.H247Y NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 247 Laminin N-terminal. 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) TACTTTCTCTCACACCCTGAG 0.448000 43 49 0 0 0.003610 0 0 HECW2 57520 broad.mit.edu 37 2 197189781 197189781 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:197189781G>A uc002utm.1 - 5 847 c.664C>T c.(664-666)Ccc>Tcc p.P222S HECW2_uc002utl.1_5'UTR NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 222 C2. 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 GCACAGGTGGGGAAACTGCTC 0.488000 155 57 0 0 0.003610 0 0 INPP5D 3635 broad.mit.edu 37 2 234106901 234106901 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:234106901C>T uc010zmo.2 + 23 2920 c.2767C>T c.(2767-2769)Ccg>Tcg p.P923S INPP5D_uc010zmp.2_Missense_Mutation_p.P922S NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 952 Pro-rich. T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAAGGACTCCCCGCTGGGGCC 0.652000 17 28 0 0 0.008361 0 0 LPGAT1 9926 broad.mit.edu 37 1 211956832 211956832 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:211956832G>A uc001hiu.3 - 4 1279 c.466C>T c.(466-468)Cgt>Tgt p.R156C LPGAT1_uc001hiv.3_Missense_Mutation_p.R156C NM_014873 NP_055688 Q92604 LGAT1_HUMAN Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA. 156 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TGTTGGTCACGATAAGATCTT 0.368000 48 11 0 0 0.001368 0 0 SLC7A8 23428 broad.mit.edu 37 14 23597227 23597227 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:23597227C>T uc001wiz.3 - 10 2167 c.1441_splice c.e10+1 p.E481_splice SLC7A8_uc001wiw.3_Splice_Site_p.E98_splice|SLC7A8_uc001wix.3_Splice_Site_p.E278_splice|SLC7A8_uc010tnk.2_Splice_Site_p.E257_splice|SLC7A8_uc010tnl.2_Splice_Site_p.E376_splice|SLC7A8_uc001wiy.3_Splice_Site|SLC7A8_uc010akj.3_Intron NM_012244 NP_877392 Q9UHI5 LAT2_HUMAN Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA. 481 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CAACAACTCACCAATGAAGTC 0.567000 16 10 0 0 0.006214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675538 176675538 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:176675538G>A uc001gkz.3 + 9 4573 c.3409G>A c.(3409-3411)Gat>Aat p.D1137N PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1137 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G1136V(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGAGCGGAGATGGCTGCTC 0.408000 17 37 0 0 0.002522 0 0 WNT2 7472 broad.mit.edu 37 7 116960676 116960676 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:116960676C>T uc003viz.3 - 1 555 c.255G>A c.(253-255)tgG>tgA p.W85* WNT2_uc003vja.3_Missense_Mutation_p.E11K NM_003391 NP_003382 P09544 WNT2_HUMAN Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA. 85 Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGTTGCAATTCCAGCGGTGCT 0.592000 14 11 0 0 0.001855 0 0 PXDC1 221749 broad.mit.edu 37 6 3727859 3727860 + Missense_Mutation DNP GG AA AA rs138093421 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:3727859_3727860GG>AA uc003mvt.2 - 3 984_985 c.503_504CC>TT c.(502-504)acc>aTT p.T168I NM_183373 NP_899229 Q5TGL8 CF145_HUMAN Homo sapiens PX domain containing 1 (PXDC1), mRNA. 168 cell communication phosphatidylinositol binding p.T168T(1) CTATTGTTTCGGTATTTGCTAA 0.436000 43 28 0 0 0.004672 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036073 9036073 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:9036073C>T uc003brf.1 - 18 3038 c.2362G>A c.(2362-2364)Ggc>Agc p.G788S SRGAP3_uc003brg.1_Missense_Mutation_p.G764S NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 788 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCATCCACGCCGTTGTGCCGG 0.572000 T RAF1 pilocytic astrocytoma 58 28 0 0 0.006320 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:131404763G>A uc011blq.2 - 5 711 c.601C>T c.(601-603)Cgt>Tgt p.R201C CPNE4_uc003eok.3_Missense_Mutation_p.R183C|CPNE4_uc003eol.3_Missense_Mutation_p.R201C|CPNE4_uc003eom.3_Missense_Mutation_p.R183C NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 183 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCATTCATACGAAAAATTTCC 0.383000 21 6 0 0 0.001168 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57485457T>C uc001smz.3 + 1 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NM_005967 NP_005958 Q15742 NAB2_HUMAN Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA. 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(6) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 51 8 0 0 0.006214 0 0 OR6K6 128371 broad.mit.edu 37 1 158725527 158725527 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:158725527C>T uc001fsw.1 + 0 922 c.922C>T c.(922-924)Ctt>Ttt p.L308F NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TTTTGTTATCCTTGCTCCCTT 0.443000 57 67 0 0 0.003610 0 0 PARP6 56965 broad.mit.edu 37 15 72551976 72551976 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:72551976G>A uc002auc.3 - 9 1242 c.783C>T c.(781-783)ccC>ccT p.P261P PARP6_uc002aua.3_Silent_p.P106P|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Silent_p.P261P NM_020214 NP_064599 Q2NL67 PARP6_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA. 261 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 ACTCCAGAGTGGGAATGTTCT 0.502000 88 104 0 0 0.003610 0 0 ZMYM4 9202 broad.mit.edu 37 1 35824978 35824978 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:35824978G>A uc001byt.3 + 2 618 c.538G>A c.(538-540)Gaa>Aaa p.E180K ZMYM4_uc009vuu.3_Missense_Mutation_p.E148K|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 180 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTATGAACGTGAAAAACGGTT 0.323000 27 9 0 0 0.006214 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475983 140475983 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140475983G>A uc003lil.3 + 0 1747 c.1609G>A c.(1609-1611)Gac>Aac p.D537N PCDHB2_uc003lim.1_Missense_Mutation_p.D198N NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 537 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGCCGCAGACCGCGGCTC 0.687000 53 17 0 0 0.006122 0 0 APOB 338 broad.mit.edu 37 2 21250882 21250882 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:21250882C>T uc002red.3 - 13 2013 c.1885G>A c.(1885-1887)Gac>Aac p.D629N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 629 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.M628L(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTCTGAAGTCCATGACAGTT 0.363000 321 116 0 0 0.003610 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840733 840733 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:840733G>A uc011cma.1 - 4 1045 c.661C>T c.(661-663)Ctc>Ttc p.L221F ZDHHC11_uc010itd.1_Non-coding_Transcript|ZDHHC11_uc003jbk.3_Missense_Mutation_p.L8F NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA. 221 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AACAGGGGGAGGAACAGCAGC 0.592000 242 89 0 0 0.003610 0 0 SNRK 54861 broad.mit.edu 37 3 43389431 43389431 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:43389431C>T uc003cms.4 + 6 2012 c.1680C>T c.(1678-1680)ttC>ttT p.F560F SNRK_uc003cmt.4_Silent_p.F560F|SNRK_uc010hik.3_Silent_p.F560F|SNRK_uc011azr.2_Silent_p.F354F NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA. 560 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) ATAGCGGGTTCACCTACTCCT 0.637000 27 30 0 0 0.002445 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143924 55143924 + Missense_Mutation SNP C T T rs3745073 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:55143924C>T uc002lgo.3 + 1 1516 c.1484C>T c.(1483-1485)tCg>tTg p.S495L NM_004852 NP_004843 O95948 ONEC2_HUMAN Homo sapiens one cut homeobox 2 (ONECUT2), mRNA. 495 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GGGGGCTCCTCGTCCACCTCC 0.557000 38 7 0 0 0.003080 0 0 FCGBP 8857 broad.mit.edu 37 19 40424418 40424418 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:40424418C>T uc002omp.4 - 3 1793 c.1785G>A c.(1783-1785)ctG>ctA p.L595L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 595 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCTGAGTGCCAGCTGGCAGT 0.632000 36 12 0 0 0.000978 0 0 GPR171 29909 broad.mit.edu 37 3 150916724 150916724 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:150916724C>T uc003eyq.4 - 2 690 c.450G>A c.(448-450)atG>atA p.M150I MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.M150I NM_013308 NP_037440 O14626 GP171_HUMAN Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA. 150 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGGAATCATCATATTTGGCA 0.378000 27 30 0 0 0.002096 0 0 POTEC 388468 broad.mit.edu 37 18 14542924 14542924 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:14542924C>T uc010dln.3 - 0 676 c.222G>A c.(220-222)ggG>ggA p.G74G POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 74 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCGTGCCGCTCCCCCTGCAGC 0.567000 282 16 0 0 0.007413 0 0 C15orf2 23742 broad.mit.edu 37 15 24922182 24922182 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:24922182A>G uc001ywo.3 + 0 1642 c.1168A>G c.(1168-1170)Aca>Gca p.T390A NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 390 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGAGACCATGACAAACAGCAG 0.537000 24 8 0 0 0.004482 0 0 C1R 715 broad.mit.edu 37 12 7242311 7242311 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:7242311G>A uc010sfy.2 - 3 502 c.443C>T c.(442-444)tCc>tTc p.S148F C1R_uc010sfz.1_Missense_Mutation_p.S162F|C1R_uc021quh.1_Missense_Mutation_p.S37F|C1R_uc010sga.1_Missense_Mutation_p.S114F NM_001733 NP_001724 P00736 C1R_HUMAN Homo sapiens complement component 1, r subcomponent (C1R), mRNA. 148 EGF-like; calcium-binding (Potential). complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTTGCTCCGGGAAGCACATTC 0.557000 23 17 0 0 0.004990 0 0 DENND2C 163259 broad.mit.edu 37 1 115079237 115079237 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:115079237G>A uc001eez.3 - 28 c.4406C>T NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCAAGAAGGGTGTGAACCT 0.542000 39 16 0 0 0.003163 0 0 CA1 759 broad.mit.edu 37 8 86253845 86253845 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:86253845C>T uc022axc.1 - 0 99 c.20G>A c.(19-21)gGa>gAa p.G7E CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.G7E|CA1_uc022axd.1_Missense_Mutation_p.G7E|CA1_uc010mae.2_Missense_Mutation_p.G7E|CA1_uc003ydi.3_Missense_Mutation_p.G7E NM_001164830 NP_001729 P00915 CAH1_HUMAN Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA. 7 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GTCATCATATCCCCAGTCTGG 0.323000 41 8 0 0 0.006214 0 0 DRD5 1816 broad.mit.edu 37 4 9783797 9783797 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:9783797C>T uc003gmb.4 + 0 540 c.144C>T c.(142-144)acC>acT p.T48T NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 48 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCTGCTGACCCTACTCATCA 0.677000 14 10 0 0 0.008291 0 0 SELP 6403 broad.mit.edu 37 1 169578921 169578921 + Missense_Mutation SNP G A A rs3917742 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:169578921G>A uc001ggi.4 - 7 1219 c.1154C>T c.(1153-1155)tCg>tTg p.S385L SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 385 Sushi 4. S -> L (in dbSNP:rs3917742). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CGGCTCACACGAAATAGCTAA 0.478000 14 23 0 0 0.002780 0 0 HVCN1 84329 broad.mit.edu 37 12 111099079 111099079 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:111099079C>T uc001trs.1 - 3 361 c.196G>A c.(196-198)Gaa>Aaa p.E66K HVCN1_uc001trq.1_Missense_Mutation_p.E66K|HVCN1_uc001trt.1_Missense_Mutation_p.E66K|HVCN1_uc010syd.1_Missense_Mutation_p.E46K NM_032369 NP_115745 Q96D96 HVCN1_HUMAN Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA. 66 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GCTCTGCCTTCCTCGCCTGAG 0.607000 32 33 0 0 0.004289 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429126 23429126 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:23429126A>G uc003xdo.3 + 3 928 c.775A>G c.(775-777)Aag>Gag p.K259E SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA. 259 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) GGACGTCTGTAAGACCCTTCT 0.672000 23 8 0 0 0.003080 0 0 NBPF1 55672 broad.mit.edu 37 1 16895731 16895732 + Splice_Site DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:16895731_16895732CC>TT uc009vos.1 - 23 3339 c.2451_splice c.e23-1 p.R817_splice NBPF1_uc009vot.1_Splice_Site_p.R275_splice|NBPF1_uc001ayz.1_Splice_Site_p.R275_splice|NBPF1_uc010oce.1_Splice_Site_p.R546_splice NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 817 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTGCAGATTCCTGATGAGCCA 0.485000 344 16 0 0 0.004672 0 0 CDK18 5129 broad.mit.edu 37 1 205492667 205492667 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:205492667C>T uc001hcr.3 + 2 449 c.187C>T c.(187-189)Cca>Tca p.P63S CDK18_uc009xbk.2_Non-coding_Transcript|CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Missense_Mutation_p.P83L|CDK18_uc001hcp.3_Missense_Mutation_p.P63S|CDK18_uc001hcq.3_Missense_Mutation_p.P63S|CDK18_uc010prj.2_5'UTR|CDK18_uc001hcs.3_5'UTR|CDK18_uc009xbm.1_5'UTR NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 61 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CACCTTCTCCCCAACAGACAG 0.667000 2 8 0 0 0.008291 0 0 INHBE 83729 broad.mit.edu 37 12 57850391 57850391 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57850391C>T uc001snw.3 + 1 1037 c.813C>T c.(811-813)taC>taT p.Y271Y NM_031479 NP_113667 P58166 INHBE_HUMAN Homo sapiens inhibin, beta E (INHBE), mRNA. 271 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCGAGGGGTACCAGCTGAATT 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 25 0 0 0.004656 0 0 AK300387 0 broad.mit.edu 37 16 32192642 32192642 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:32192642G>A uc010vfv.1 - 4 c.704C>T Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2. GTCCTGCAGGGGCATGCTTCT 0.572000 26 7 0 0 0.001984 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581661 140581661 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140581661C>T uc003liy.3 + 0 2314 c.2314C>T c.(2314-2316)Cct>Tct p.P772S NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 772 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCGGTTATCCCTAATATCCA 0.433000 32 17 0 0 0.004990 0 0 COPB2 9276 broad.mit.edu 37 3 139092233 139092233 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:139092233T>C uc003etf.4 - 8 1046 c.916A>G c.(916-918)Atg>Gtg p.M306V COPB2_uc011bmv.2_Missense_Mutation_p.M277V|COPB2_uc010hui.3_Missense_Mutation_p.M277V NM_004766 NP_004757 P35606 COPB2_HUMAN Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA. 306 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TCCATGGACATGGCAGGTTCC 0.398000 37 13 0 0 0.003163 0 0 KSR2 283455 broad.mit.edu 37 12 117962911 117962911 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:117962911G>A uc001two.2 - 13 1933 c.1878C>T c.(1876-1878)ttC>ttT p.F626F NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 655 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) ACTCCTGAAGGAAGATGCTGG 0.607000 40 30 0 0 0.003271 0 0 ZFHX3 463 broad.mit.edu 37 16 72830437 72830437 + Silent SNP T G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:72830437T>G uc002fck.3 - 8 6817 c.6144A>C c.(6142-6144)ccA>ccC p.P2048P ZFHX3_uc002fcl.3_Silent_p.P1134P NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2048 Poly-Pro. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAAGTGGGGGTGGAGGGGGTG 0.642000 42 6 0 0 0.000978 0 0 TSHR 7253 broad.mit.edu 37 14 81610130 81610130 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:81610130C>T uc001xvd.1 + 9 1884 c.1728C>T c.(1726-1728)acC>acT p.T576T NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 576 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.E575K(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) ACACCGAGACCCCTCTTGCTC 0.498000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 118 35 0 0 0.004289 0 0 ADAM9 8754 broad.mit.edu 37 8 38879213 38879213 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:38879213C>T uc003xmr.3 + 7 802 c.724C>T c.(724-726)Ctg>Ttg p.L242L ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript NM_003816 NP_003807 Q13443 ADAM9_HUMAN Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA. 242 Peptidase M12B. PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) GATGATTCTCCTGGCAAACTA 0.363000 20 40 0 0 0.002222 0 0 GRIN1 2902 broad.mit.edu 37 9 140040183 140040183 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:140040183C>T uc004clk.3 + 2 729 c.399C>T c.(397-399)atC>atT p.I133I GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Silent_p.I130I|GRIN1_uc004cln.3_Silent_p.I133I|GRIN1_uc004clo.3_Silent_p.I133I|GRIN1_uc004clm.3_Silent_p.I133I|GRIN1_uc004cll.3_Silent_p.I133I NM_007327 NP_015566 Q05586 NMDZ1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA. 133 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) CGCAGAGCATCCACCTGAGCT 0.697000 17 15 0 0 0.007413 0 0 ABCA13 154664 broad.mit.edu 37 7 48312681 48312681 + Missense_Mutation SNP A C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:48312681A>C uc003toq.2 + 16 3442 c.3418A>C c.(3418-3420)Aag>Cag p.K1140Q ABCA13_uc010kyr.2_Missense_Mutation_p.K643Q|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. 1140 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 TGTGTTCAACAAGTTTATGTC 0.348000 80 17 0 0 0.004990 0 0 CARD11 84433 broad.mit.edu 37 7 2979485 2979485 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:2979485C>T uc003smv.3 - 5 1096 c.762G>A c.(760-762)aaG>aaA p.K254K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 254 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.N252_K255del(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CAATGTCATTCTTCAGTTTTA 0.473000 Mis DLBCL 77 92 0 0 0.003610 0 0 TRIML1 339976 broad.mit.edu 37 4 189061057 189061057 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:189061057C>T uc003izm.1 + 0 460 c.345C>T c.(343-345)ttC>ttT p.F115F NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 115 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) GAAGCGCCTTCGTAGCCCAGA 0.612000 23 10 0 0 0.008291 0 0 EPPK1 83481 broad.mit.edu 37 8 144945250 144945250 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:144945250G>A uc003zaa.1 - 0 2185 c.2172C>T c.(2170-2172)atC>atT p.I724I NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 724 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) CGCCCGTGGCGATCTGGGCCT 0.662000 57 29 0 0 0.005443 0 0 RINT1 60561 broad.mit.edu 37 7 105182879 105182879 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:105182879C>T uc003vda.1 + 3 529 c.298C>T c.(298-300)Cct>Tct p.P100S RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN Homo sapiens RAD50 interactor 1 (RINT1), mRNA. 100 G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ATCAGAAATTCCTAAAAGAAT 0.308000 57 11 0 0 0.008291 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:94030836C>A uc003kkr.4 + 20 3076 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_uc003kks.3_Missense_Mutation_p.T363N NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA. 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 40 8 2.74318e-10 3.04699e-10 0.006214 1 0 DUOX2 50506 broad.mit.edu 37 15 45399580 45399580 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:45399580G>A uc001zun.3 - 13 1859 c.1656C>T c.(1654-1656)ccC>ccT p.P552P DUOX2_uc010bea.3_Silent_p.P552P NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 552 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCAGGGCACTGGGGTCAATGT 0.517000 46 18 0 0 0.001523 0 0 PTPRB 5787 broad.mit.edu 37 12 70953309 70953309 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:70953309C>T uc001swb.4 - 15 3904 c.3874G>A c.(3874-3876)Gac>Aac p.D1292N PTPRB_uc010sto.2_Missense_Mutation_p.D1202N|PTPRB_uc010stp.2_Missense_Mutation_p.D1202N|PTPRB_uc001swc.4_Missense_Mutation_p.D1510N|PTPRB_uc001swa.4_Missense_Mutation_p.D1422N|PTPRB_uc001swd.4_Missense_Mutation_p.D1509N|PTPRB_uc009zrr.2_Missense_Mutation_p.D1389N NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1292 Fibronectin type-III 15. 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) AGCTCAAAGTCGTTGTAGTCT 0.498000 114 70 0 0 0.003610 0 0 CCDC146 57639 broad.mit.edu 37 7 76889382 76889382 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:76889382C>T uc003uga.3 + 7 942 c.815C>T c.(814-816)tCc>tTc p.S272F CCDC146_uc010ldp.3_Missense_Mutation_p.S18F NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 272 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CTAAATGACTCCCTAAAGAAA 0.373000 44 61 0 0 0.003610 0 0 IFNA16 3449 broad.mit.edu 37 9 21217032 21217032 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:21217032G>A uc003zor.1 - 0 279 c.273C>T c.(271-273)ttC>ttT p.F91F IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 91 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCTTTGTGCTGAAGAGATTGA 0.478000 14 65 0 0 0.003610 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965629 35965630 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35965629_35965630CC>TT uc003jjv.2 - 3 894_895 c.701_702GG>AA c.(700-702)agg>aAA p.R234K UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R234K|UGT3A1_uc011cor.2_Missense_Mutation_p.R200K|UGT3A1_uc003jjy.2_Missense_Mutation_p.R180K NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 234 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAAAACTGGCCTAGAGCCTTC 0.436000 29 34 0 0 0.004672 0 0 EPHA4 2043 broad.mit.edu 37 2 222347196 222347196 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:222347196G>A uc002vmq.3 - 4 1236 c.1194C>T c.(1192-1194)gtC>gtT p.V398V EPHA4_uc002vmr.2_Silent_p.V398V|EPHA4_uc010zlm.1_Silent_p.V339V NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 398 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CAGTGATGGAGACTTTGGTGG 0.498000 144 153 0 0 0.003610 0 0 OR4C15 81309 broad.mit.edu 37 11 55322535 55322535 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55322535G>A uc010rig.2 + 0 753 c.753G>A c.(751-753)atG>atA p.M251I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTGGCCTCATGGTGGTCATCA 0.458000 HNSCC(20;0.049) 35 27 0 0 0.003954 0 0 DNAH9 1770 broad.mit.edu 37 17 11687643 11687643 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:11687643C>T uc002gne.3 + 40 7916 c.7848C>T c.(7846-7848)tcC>tcT p.S2616S DNAH9_uc010coo.3_Silent_p.S1910S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2616 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGTCCTCTCCTTCCCGGGGG 0.532000 110 91 0 0 0.003610 0 0 CDS2 8760 broad.mit.edu 37 20 5170841 5170841 + Silent SNP C T T rs138757559 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:5170841C>T uc002wls.3 + 12 1631 c.1299C>T c.(1297-1299)atC>atT p.I433I CDS2_uc002wlw.3_Silent_p.I313I|CDS2_uc002wlv.3_Silent_p.I335I|CDS2_uc010zqv.2_Silent_p.I203I NM_003818 NP_003809 O95674 CDS2_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA. 433 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CTCATCTGATCGACAAAGGGA 0.562000 16 19 0 0 0.008871 0 0 RTN1 6252 broad.mit.edu 37 14 60212874 60212874 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:60212874C>T uc001xen.1 - 1 776 c.567G>A c.(565-567)atG>atA p.M189I NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 189 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCTCTGCTTTCATCTGGTCCA 0.458000 65 63 0 0 0.003610 0 0 LPHN1 22859 broad.mit.edu 37 19 14274081 14274081 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:14274081G>A uc010xnn.2 - 5 843 c.547C>T c.(547-549)Cgc>Tgc p.R183C LPHN1_uc010xno.2_Missense_Mutation_p.R178C|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 183 Olfactomedin-like. 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 GTGTCCGTGCGGTAGGGGATC 0.657000 32 18 0 0 0.004990 0 0 OR9G4 283189 broad.mit.edu 37 11 56510788 56510788 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56510788C>T uc010rjo.2 - 0 500 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G167*(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ATTCAAAAATCCTCCTATGTA 0.453000 59 48 0 0 0.003610 0 0 DDX46 9879 broad.mit.edu 37 5 134117686 134117686 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:134117686G>A uc003kzw.3 + 7 1123 c.955G>A c.(955-957)Gaa>Aaa p.E319K DDX46_uc003kzv.1_Non-coding_Transcript NM_014829 NP_055644 Q7L014 DDX46_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA. 319 RNA splicing|mRNA processing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAAGCTTCTAGAACCAGTTGA 0.343000 30 10 0 0 0.008291 0 0 MYO9B 4650 broad.mit.edu 37 19 17305746 17305747 + Nonsense_Mutation DNP GG AT AT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:17305746_17305747GG>AT uc010eak.3 + 21 3662_3663 c.3510_3511GG>AT c.(3508-3513)aaggag>aaATag p.E1171* MYO9B_uc002nfi.3_Nonsense_Mutation_p.E1171*|MYO9B_uc002nfj.1_Nonsense_Mutation_p.E1171* NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1171 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGTCCTGCAAGGAGGAGAGTGC 0.559000 40 17 0 0 0.004672 0 0 KRT32 3882 broad.mit.edu 37 17 39620632 39620632 + Missense_Mutation SNP G A A rs147094229 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:39620632G>A uc002hwr.3 - 3 833 c.772C>T c.(772-774)Ccg>Tcg p.P258S NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 258 Linker 12.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) AGGTCCACCGGGGGTGCAGCG 0.577000 16 15 0 0 0.003163 0 0 CDHR3 222256 broad.mit.edu 37 7 105658498 105658498 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:105658498G>A uc003vdl.4 + 11 1741 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.E532K|CDHR3_uc011klt.2_Missense_Mutation_p.E457K|CDHR3_uc003vdn.3_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 545 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CACCAACAACGAAGACACAAG 0.493000 30 8 0 0 0.006214 0 0 HRG 3273 broad.mit.edu 37 3 186394992 186394992 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:186394992C>T uc003fqq.3 + 6 921 c.898C>T c.(898-900)Cct>Tct p.P300S NM_000412 NP_000403 P04196 HRG_HUMAN Homo sapiens histidine-rich glycoprotein (HRG), mRNA. 300 Pro-rich. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACCCCCACCTCCTCCAGATGA 0.532000 33 47 0 0 0.003610 0 0 FOLH1 2346 broad.mit.edu 37 11 49214396 49214396 + Silent SNP A T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:49214396A>T uc001ngy.3 - 3 723 c.462T>A c.(460-462)gtT>gtA p.V154V FOLH1_uc009yly.3_Silent_p.V139V|FOLH1_uc009ylz.3_Silent_p.V139V|FOLH1_uc001ngz.3_Silent_p.V154V|FOLH1_uc009yma.3_5'UTR|FOLH1_uc001nha.3_Silent_p.V139V NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 154 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CAATATCCGAAACATTTTCAT 0.328000 118 65 0 0 0.003610 0 0 RPS19 6223 broad.mit.edu 37 19 42373237 42373237 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:42373237C>T uc002ort.3 + 3 681 c.309C>T c.(307-309)gtC>gtT p.V103V NM_001022 NP_001013 P39019 RS19_HUMAN Homo sapiens ribosomal protein S19 (RPS19), mRNA. 103 endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|rRNA processing|response to extracellular stimulus|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 CCCGCCGGGTCCTCCAAGCCC 0.607000 Diamond-Blackfan Anemia 29 8 0 0 0.004482 0 0 NRXN1 9378 broad.mit.edu 37 2 50780137 50780137 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:50780137C>T uc021vhh.1 - 7 2268 c.1347G>A c.(1345-1347)agG>agA p.R449R NRXN1_uc002rxb.4_Silent_p.R121R|NRXN1_uc021vhg.1_Silent_p.R489R|NRXN1_uc021vhi.1_Silent_p.R485R|NRXN1_uc021vhj.1_Silent_p.R445R|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 449 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATAATTCCAGCCTCACATCAT 0.393000 89 18 0 0 0.001882 0 0 PAX4 5078 broad.mit.edu 37 7 127254549 127254549 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:127254549C>T uc010lld.1 - 2 605 c.399G>A c.(397-399)cgG>cgA p.R133R PAX4_uc003vmf.2_Silent_p.R131R|PAX4_uc003vmg.1_Silent_p.R133R|PAX4_uc003vmh.3_Silent_p.R131R NM_006193 NP_006184 O43316 PAX4_HUMAN Homo sapiens paired box 4 (PAX4), mRNA. 141 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GTGACCTGAGCCGTGTGCACG 0.542000 9 4 0 0 0.000248 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31525547 31525547 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:31525547C>T uc003nub.3 + 2 596 c.477C>T c.(475-477)gcC>gcT p.A159A NFKBIL1_uc011dnr.2_Silent_p.A136A|NFKBIL1_uc011dns.2_Silent_p.A136A|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Silent_p.A159A NM_005007 NP_001138434 Q9UBC1 IKBL1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA. 159 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AAGATGATGCCTCCAAGGAGC 0.562000 52 28 0 0 0.008361 0 0 FAM53C 51307 broad.mit.edu 37 5 137680705 137680705 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:137680705C>T uc003lcv.3 + 3 798 c.328C>T c.(328-330)Cct>Tct p.P110S FAM53C_uc003lcw.3_Missense_Mutation_p.P110S|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron NM_001135647 NP_057689 Q9NYF3 FA53C_HUMAN Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA. 110 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCCTGTGCCCCCTGCCCCTCC 0.662000 50 29 0 0 0.006320 0 0 ADAM18 8749 broad.mit.edu 37 8 39505984 39505984 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:39505984C>T uc003xni.3 + 11 1223 c.1168C>T c.(1168-1170)Caa>Taa p.Q390* ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Nonsense_Mutation_p.Q366* NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 390 Disintegrin. 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) ACATCAAAATCAACCAGTGTG 0.333000 22 4 0 0 0.000248 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591720 46591720 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:46591720C>T uc009zkj.1 - 14 1931 c.1246G>A c.(1246-1248)Gat>Aat p.D416N SLC38A1_uc001rpb.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpc.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpd.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpe.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpa.3_Missense_Mutation_p.D416N NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 416 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CCAAAAATATCCTTCATGGAG 0.383000 21 19 0 0 0.001523 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763759 77763759 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:77763759C>T uc003yau.2 + 9 4989 c.4602C>T c.(4600-4602)ttC>ttT p.F1534F ZFHX4_uc003yaw.1_Silent_p.F1489F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1489 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) TGGAAAAATTCCTTGATCCAT 0.398000 HNSCC(33;0.089) 36 9 0 0 0.000978 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776277 77776277 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:77776277C>T uc003yau.2 + 10 10714 c.10327C>T c.(10327-10329)Cca>Tca p.P3443S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3394 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) GCTTCGTGTCCCAGTCAGCAA 0.448000 HNSCC(33;0.089) 23 9 0 0 0.008291 0 0 ZC3H4 23211 broad.mit.edu 37 19 47569895 47569896 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:47569895_47569896GG>AA uc002pga.4 - 14 3667_3668 c.3629_3630CC>TT c.(3628-3630)acc>aTT p.T1210I ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 1210 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGTCCGTGGGGGTGCCCCCATC 0.693000 9 21 0 0 0.004672 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936747 119936747 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:119936747G>A uc003yon.4 - 4 1395 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S NM_002546 NP_002537 O00300 TR11B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA. 358 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ACAGTTTTGGGAAAGTGGTAC 0.413000 81 89 0 0 0.003610 0 0 ZFP106 64397 broad.mit.edu 37 15 42717188 42717188 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:42717188G>A uc001zpw.3 - 12 5292 c.4965C>T c.(4963-4965)ggC>ggT p.G1655G ZFP106_uc001zpu.3_Silent_p.G753G|ZFP106_uc001zpv.3_Silent_p.G840G|ZFP106_uc001zpx.3_Silent_p.G883G NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 1655 nucleolus zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) CTGCCCGAGGGCCATGGCATT 0.473000 44 18 0 0 0.001882 0 0 CSMD1 64478 broad.mit.edu 37 8 3265640 3265640 + Missense_Mutation SNP G C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:3265640G>C uc022aqr.1 - 13 2242 c.1852C>G c.(1852-1854)Cca>Gca p.P618A CSMD1_uc011kwj.2_Missense_Mutation_p.P11A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 619 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGACTTCCTGGCTCCGAGATA 0.408000 21 5 0 0 0.001168 0 0 PRDM15 63977 broad.mit.edu 37 21 43243672 43243672 + Splice_Site SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:43243672A>G uc002yzq.1 - 21 2970 c.2859_splice c.e21+1 p.K953_splice PRDM15_uc002yzo.3_Splice_Site_p.K624_splice|PRDM15_uc002yzp.3_Splice_Site_p.K644_splice|PRDM15_uc002yzr.1_Splice_Site_p.K644_splice NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 953 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CGCGATCGACACCTTGAAGTG 0.622000 1 3 0 0 0.004672 0 0 TRIO 7204 broad.mit.edu 37 5 14280524 14280524 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:14280524C>T uc003jff.3 + 2 332 c.326C>T c.(325-327)tCc>tTc p.S109F TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.S60F NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 109 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGACTCATTTCCTATCTAGCC 0.458000 35 12 0 0 0.003163 0 0 DDX24 57062 broad.mit.edu 37 14 94526797 94526797 + Silent SNP G A A rs150012797 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:94526797G>A uc001ycj.3 - 4 1659 c.1560C>T c.(1558-1560)atC>atT p.I520I DDX24_uc010twq.2_Silent_p.I477I|DDX24_uc010twr.2_Silent_p.I270I NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA. 520 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding p.R519Q(1) cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCTTATGAAGGATTCGAGCAG 0.468000 24 83 0 0 0.003610 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514357 113514357 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:113514357C>T uc002tie.2 - 3 670 c.591G>A c.(589-591)agG>agA p.R197R CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.R32R|CKAP2L_uc010yxq.1_Silent_p.R32R NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA. 197 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 GATCTGGCTTCCTCTCAGGTT 0.338000 26 22 0 0 0.001523 0 0 WBP11P1 441818 broad.mit.edu 37 18 30091984 30091984 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:30091984G>A uc010dmc.3 + 0 c.359G>A Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. CCGAGACATGGAGAAATTGGA 0.403000 22 19 0 0 0.006122 0 0 WDFY3 23001 broad.mit.edu 37 4 85594125 85594125 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:85594125C>T uc003hpd.3 - 67 10885 c.10477G>A c.(10477-10479)Gaa>Aaa p.E3493K WDFY3_uc003hpc.3_Missense_Mutation_p.E248K NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 3493 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CGTTTGATTTCAGATTGAAAG 0.408000 45 33 0 0 0.003271 0 0 ADAM32 203102 broad.mit.edu 37 8 39091417 39091417 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:39091417G>A uc003xmt.4 + 16 1880 c.1635_splice c.e16-1 p.R545_splice ADAM32_uc011lch.2_Splice_Site_p.R446_splice|ADAM32_uc003xmu.4_Splice_Site_p.R439_splice|ADAM32_uc003xmv.3_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 545 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TATGTTTTCAGGAATCTTATA 0.313000 7 3 0 0 0.004672 0 0 OR11G2 390439 broad.mit.edu 37 14 20665683 20665683 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:20665683C>T uc010tlb.2 + 0 189 c.189C>T c.(187-189)atC>atT p.I63I NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) AGGGGCAGATCCTCCTCTTTG 0.552000 37 15 0 0 0.002450 0 0 RNF31 55072 broad.mit.edu 37 14 24618730 24618730 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:24618730C>T uc001wmn.1 + 5 996 c.747C>T c.(745-747)tcC>tcT p.S249S PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_Silent_p.S98S|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.S64S|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 249 Polyubiquitin-binding. CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination CD40 receptor complex|LUBAC complex|internal side of plasma membrane ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GACACCCATCCCGTGCTCATC 0.612000 44 37 0 0 0.004878 0 0 TRPC5 7224 broad.mit.edu 37 X 111155741 111155741 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:111155741C>T uc004epl.1 - 2 1597 c.678G>A c.(676-678)gaG>gaA p.E226E TRPC5_uc004epm.1_Silent_p.E226E NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 226 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCTCCTTGAGCTCCCAGCCCA 0.552000 20 116 0 0 0.003610 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147295 26147295 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:26147295G>A uc002dof.3 + 1 1489 c.1097G>A c.(1096-1098)gGg>gAg p.G366E NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 366 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.A365A(1) breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GACCCCGCCGGGGAAATGGCC 0.493000 49 48 0 0 0.003610 0 0 OTOGL 283310 broad.mit.edu 37 12 80730237 80730237 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:80730237G>A uc001szd.3 + 38 4624 c.4618G>A c.(4618-4620)Gga>Aga p.G1540R NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TACATTTGATGGAAACAACGC 0.338000 22 12 0 0 0.001855 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29906672 29906672 + Missense_Mutation SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:29906672C>G uc010vec.2 - 4 1006 c.761G>C c.(760-762)gGa>gCa p.G254A BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.G184A|SEZ6L2_uc002dur.4_Missense_Mutation_p.G184A|SEZ6L2_uc002duq.4_Missense_Mutation_p.G254A|SEZ6L2_uc010ved.2_Missense_Mutation_p.G210A|SEZ6L2_uc002dus.4_Intron NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 254 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAGGACTTGTCCTTCTCCAAG 0.632000 119 33 0 0 0.002836 0 0 MARCO 8685 broad.mit.edu 37 2 119739049 119739049 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:119739049G>A uc002tln.1 + 8 963 c.831G>A c.(829-831)ggG>ggA p.G277G MARCO_uc010yyf.1_Silent_p.G199G NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 277 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GAGCCCAGGGGAGTAAAGGTG 0.532000 29 8 0 0 0.003080 0 0 CUX2 23316 broad.mit.edu 37 12 111779803 111779803 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:111779803C>T uc001tsa.2 + 20 3759 c.3605C>T c.(3604-3606)tCc>tTc p.S1202F NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1202 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAGCTCCTCTCCTTCCAGCTC 0.607000 45 44 0 0 0.003214 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704196 56704196 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:56704196C>T uc010ygh.2 - 0 226 c.226G>A c.(226-228)Gac>Aac p.D76N NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 76 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GTGTGGAGGTCGGGCCTCAGC 0.557000 10 16 0 0 0.004007 0 0 RFX1 5989 broad.mit.edu 37 19 14083763 14083763 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:14083763G>A uc002mxv.3 - 8 1378 c.1106C>T c.(1105-1107)tCc>tTc p.S369F RFX1_uc010dzi.2_Missense_Mutation_p.S369F NM_002918 NP_002909 P22670 RFX1_HUMAN Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA. 369 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) AGTGCTGGTGGAGCTGGCGAC 0.746000 12 3 0 0 0.004672 0 0 ECI1 1632 broad.mit.edu 37 16 2290030 2290030 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:2290030G>A uc002cpr.3 - 6 894 c.859C>T c.(859-861)Cag>Tag p.Q287* ECI1_uc002cps.3_Nonsense_Mutation_p.Q270* NM_001919 NP_001910 P42126 ECI1_HUMAN Homo sapiens enoyl-CoA delta isomerase 1 (ECI1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 287 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity endometrium(1)|large_intestine(2)|lung(6) 9 AGGGACTTCTGGATGGAGTCT 0.582000 47 21 0 0 0.002780 0 0 MMRN1 22915 broad.mit.edu 37 4 90874301 90874301 + Missense_Mutation SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:90874301C>A uc003hst.3 + 7 3490 c.3419C>A c.(3418-3420)cCg>cAg p.P1140Q MMRN1_uc010iku.3_Missense_Mutation_p.P443Q|MMRN1_uc011cds.2_Missense_Mutation_p.P882Q NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 1140 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TTTAGAATTCCGTATCTTGGA 0.363000 51 25 9.57634e-11 1.06484e-10 0.003330 1 0 OR4K5 79317 broad.mit.edu 37 14 20389033 20389033 + Missense_Mutation SNP G A A rs151215030 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:20389033G>A uc010tkw.2 + 0 268 c.268G>A c.(268-270)Gag>Aag p.E90K NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H89H(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGTGCACACGAGACCATATC 0.428000 134 54 0 0 0.003610 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761086 121761086 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:121761086G>A uc003ksw.1 + 4 1248 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E348K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E395K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E42K|SNCAIP_uc010jcx.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 348 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding p.D347H(1) NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AATTCACGACGAAAATGGAAA 0.438000 68 53 0 0 0.003610 0 0 PDE7B 27115 broad.mit.edu 37 6 136476825 136476825 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:136476825G>A uc003qgp.3 + 7 943 c.640G>A c.(640-642)Gat>Aat p.D214N AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.D266N NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN Homo sapiens phosphodiesterase 7B (PDE7B), mRNA. 214 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) AGCAGCACACGATGTGGACCA 0.488000 3 20 0 0 0.001882 0 0 KL 9365 broad.mit.edu 37 13 33629429 33629429 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:33629429G>A uc001uus.3 + 2 1584 c.1576G>A c.(1576-1578)Gga>Aga p.G526R KL_uc001uur.1_Missense_Mutation_p.G219R NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 526 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTTTGCTTGGGGAGTTGTTGA 0.448000 59 31 0 0 0.001786 0 0 GIPC1 10755 broad.mit.edu 37 19 14589320 14589320 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:14589320G>A uc002myt.3 - 8 1180 c.910C>T c.(910-912)Ctg>Ttg p.L304L GIPC1_uc002myv.3_Silent_p.L207L|GIPC1_uc002myu.3_Silent_p.L304L|GIPC1_uc002myw.3_Silent_p.L207L|GIPC1_uc002myx.3_Silent_p.L304L|GIPC1_uc002myy.3_Silent_p.L207L NM_005716 NP_974223 O14908 GIPC1_HUMAN Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA. 304 G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CGTTCGTCCAGGGCCTCGGCC 0.622000 18 21 0 0 0.008871 0 0 MYLK3 91807 broad.mit.edu 37 16 46744653 46744653 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:46744653C>T uc002eei.4 - 10 2279 c.2163G>A c.(2161-2163)atG>atA p.M721I MYLK3_uc010vge.2_Missense_Mutation_p.M380I NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 721 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CAATGAAATTCATGGTCTCTG 0.478000 120 91 0 0 0.003610 0 0 FCRL6 343413 broad.mit.edu 37 1 159779367 159779367 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:159779367C>T uc001fud.4 + 4 822 c.780C>T c.(778-780)tcC>tcT p.S260S FCRL6_uc001fuc.2_Silent_p.S267S|FCRL6_uc009wsz.1_Silent_p.S165S|FCRL6_uc009wta.3_Silent_p.S260S NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 260 Ig-like C2-type 3. integral to membrane p.S260F(2) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GAACCACCTCCCTCCTCTTCC 0.557000 48 18 0 0 0.007413 0 0 EXPH5 23086 broad.mit.edu 37 11 108412425 108412425 + Silent SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:108412425T>C uc001pkk.3 - 1 345 c.234A>G c.(232-234)ttA>ttG p.L78L NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 78 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTGGTTGTTTTAACATTTGGC 0.338000 10 37 0 0 0.007835 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217799 44217799 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:44217799A>G uc003oxa.1 + 4 640 c.556A>G c.(556-558)Aaa>Gaa p.K186E HSP90AB1_uc011dvr.1_Missense_Mutation_p.K176E|HSP90AB1_uc003oxb.1_Missense_Mutation_p.K186E|HSP90AB1_uc011dvs.1_Missense_Mutation_p.K6E|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA. 186 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCTCCATCTTAAAGAAGATCA 0.443000 46 22 0 0 0.008361 0 0 ELMO1 9844 broad.mit.edu 37 7 37272719 37272719 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:37272719G>A uc022abv.1 - 7 1240 c.530C>T c.(529-531)tCg>tTg p.S177L ELMO1_uc011kbc.2_Missense_Mutation_p.S81L|ELMO1_uc003tfk.2_Missense_Mutation_p.S177L|ELMO1_uc010kxg.2_Missense_Mutation_p.S177L NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 177 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAACGCCACCGAAAATGTATC 0.463000 49 23 0 0 0.006320 0 0 FYB 2533 broad.mit.edu 37 5 39134964 39134964 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:39134964C>T uc003jls.3 - 6 1735 c.1668G>A c.(1666-1668)agG>agA p.R556R FYB_uc003jlt.3_Silent_p.R556R|FYB_uc003jlu.3_Silent_p.R556R|FYB_uc011cpl.2_Silent_p.R566R NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 556 SH3. NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding p.R556M(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CACATGAACCCCTTGCTGTTC 0.433000 34 10 0 0 0.001368 0 0 ABCC9 10060 broad.mit.edu 37 12 21971126 21971126 + Silent SNP C T T rs140182559 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:21971126C>T uc001rfh.3 - 29 3749 c.3729G>A c.(3727-3729)tcG>tcA p.S1243S ABCC9_uc001rfi.1_Silent_p.S1243S NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1243 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATCCAGAATTCGAAGACCCAC 0.408000 126 75 0 0 0.003610 0 0 NEFM 4741 broad.mit.edu 37 8 24775166 24775166 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:24775166G>A uc003xed.4 + 2 1831 c.1798G>A c.(1798-1800)Gag>Aag p.E600K NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Missense_Mutation_p.E224K NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 600 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TACCAAGGAGGAGCTGGTGGC 0.502000 15 20 0 0 0.001523 0 0 UNC13C 440279 broad.mit.edu 37 15 54542545 54542545 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:54542545C>T uc021smr.1 + 5 3345 c.3345C>T c.(3343-3345)ctC>ctT p.L1115L UNC13C_uc021sms.1_Silent_p.L1117L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1117 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTGAAGGGCTCCTGTGGGGCA 0.522000 43 16 0 0 0.004007 0 0 SRRM1 10250 broad.mit.edu 37 1 24989168 24989168 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:24989168T>C uc001bjm.3 + 11 1725 c.1501T>C c.(1501-1503)Tcc>Ccc p.S501P SRRM1_uc010oel.2_Missense_Mutation_p.S499P|SRRM1_uc009vrh.1_Missense_Mutation_p.S460P|SRRM1_uc009vri.1_Missense_Mutation_p.S416P|SRRM1_uc010oem.1_Non-coding_Transcript NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA. 501 Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CTCCTCCTCCTCCTCAGAAGA 0.458000 27 16 0 0 0.004990 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880258 42880258 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:42880258C>T uc001chi.2 + 4 927 c.789C>T c.(787-789)atC>atT p.I263I NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 263 ATP-grasp. protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ATCTCCTTATCATGGACGATG 0.512000 181 141 0 0 0.003610 0 0 NCAPG 64151 broad.mit.edu 37 4 17829963 17829963 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:17829963C>T uc003gpp.3 + 11 1892 c.1716C>T c.(1714-1716)tcC>tcT p.S572S NCAPG_uc011bxj.2_Silent_p.S81S NM_022346 NP_071741 Q9BPX3 CND3_HUMAN Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA. 572 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AGCAGATGTCCATTTCAACAG 0.343000 44 22 0 0 0.004656 0 0 TECRL 253017 broad.mit.edu 37 4 65175549 65175549 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:65175549T>C uc003hcv.3 - 5 761 c.652A>G c.(652-654)Ata>Gta p.I218V TECRL_uc003hcw.3_Missense_Mutation_p.I218V NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA. 218 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.I218L(2) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CTCACCATTATCAAATTTTTC 0.333000 55 60 0 0 0.003610 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19428836 19428836 + RNA SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:19428836C>T uc010tcj.1 - 0 c.17274G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. acctcggcctcccaaagtgct 0.458000 15 9 0 0 0.004482 0 0 RNPC3 55599 broad.mit.edu 37 1 104093653 104093653 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:104093653G>A uc010oul.1 + 12 1567 c.1452G>A c.(1450-1452)aaG>aaA p.K484K RNPC3_uc010oum.1_Silent_p.K483K|RNPC3_uc010oun.2_Silent_p.K484K|AMY2B_uc010ouo.2_5'UTR|AMY2B_uc001duq.3_5'Flank NM_017619 NP_060089 Q96LT9 RBM40_HUMAN Homo sapiens RNA-binding region (RNP1, RRM) containing 3 (RNPC3), mRNA. 484 RRM 2. mRNA processing U12-type spliceosomal complex RNA binding|nucleotide binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163) AAGCCTTAAAGGAAGCTAATG 0.338000 28 8 0 0 0.003080 0 0 TUBB4A 10382 broad.mit.edu 37 19 6501335 6501335 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:6501335G>A uc002mfg.1 - 2 347 c.240C>T c.(238-240)ccC>ccT p.P80P TUBB4A_uc002mff.1_Silent_p.P8P NM_006087 NP_006078 P04350 TBB4_HUMAN Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA. 80 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TCTGACCGAAGGGGCCAGAAC 0.577000 17 8 0 0 0.003080 0 0 XKR6 286046 broad.mit.edu 37 8 10756182 10756182 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:10756182G>A uc003wtk.1 - 2 1233 c.1206C>T c.(1204-1206)atC>atT p.I402I NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 402 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TTCCGCCATGGATGATCCAGA 0.502000 27 22 0 0 0.002780 0 0 ZNF671 79891 broad.mit.edu 37 19 58238788 58238788 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:58238788G>A uc002qpz.4 - 0 208 c.109C>T c.(109-111)Cct>Tct p.P37S ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_5'UTR|ZNF671_uc010yhf.2_5'UTR NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN Homo sapiens zinc finger protein 671 (ZNF671), mRNA. 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P37A(2) kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCGCCATAGGACCGTGGGCG 0.687000 14 6 0 0 0.001168 0 0 OPRL1 4987 broad.mit.edu 37 20 62724272 62724272 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:62724272C>T uc002yic.3 + 2 618 c.199C>T c.(199-201)Ctg>Ttg p.L67L OPRL1_uc002yid.3_Silent_p.L67L|OPRL1_uc021wgs.1_Silent_p.L67L|OPRL1_uc002yif.4_Silent_p.L67L NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 67 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) CGGAGGGCTCCTGGGGAACTG 0.642000 39 27 0 0 0.006320 0 0 WDR76 79968 broad.mit.edu 37 15 44153570 44153570 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:44153570C>T uc001zti.2 + 11 1721 c.1602C>T c.(1600-1602)ctC>ctT p.L534L WDR76_uc021skg.1_Silent_p.L470L NM_024908 NP_001161413 Q9H967 WDR76_HUMAN Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA. 534 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) AGATTCCGCTCCTCACCACCA 0.333000 39 13 0 0 0.001855 0 0 TMEM74 157753 broad.mit.edu 37 8 109796576 109796576 + Missense_Mutation SNP A C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:109796576A>C uc003ymy.1 - 1 857 c.752T>G c.(751-753)aTg>aGg p.M251R TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.M251R NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 251 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CATGGACATCATTAACAAGCA 0.542000 34 14 0 0 0.004007 0 0 PCDH15 65217 broad.mit.edu 37 10 55581797 55581797 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:55581797C>T uc010qhy.1 - 34 6105 c.5710G>A c.(5710-5712)Gct>Act p.A1904T PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.A751T|PCDH15_uc021pqy.1_Missense_Mutation_p.A1899T|PCDH15_uc021pqz.1_Missense_Mutation_p.A1874T|PCDH15_uc010qhv.1_Missense_Mutation_p.A1894T|PCDH15_uc010qhw.1_Missense_Mutation_p.A1857T|PCDH15_uc010qhx.1_Missense_Mutation_p.A1828T|PCDH15_uc010qhz.1_Missense_Mutation_p.A1899T|PCDH15_uc010qia.1_Missense_Mutation_p.A1877T|PCDH15_uc001jju.1_Missense_Mutation_p.A1897T|PCDH15_uc010qib.1_Missense_Mutation_p.A1874T NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1897 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.E1904*(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TACATGTTAGCTACTGATTTT 0.368000 HNSCC(58;0.16) 19 69 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152275800 152275800 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152275800C>T uc001ezu.1 - 2 11598 c.11562G>A c.(11560-11562)agG>agA p.R3854R NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3854 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGCTTCTCCTGGACCCCG 0.592000 Ichthyosis 216 83 0 0 0.003610 0 0 WRN 7486 broad.mit.edu 37 8 30969258 30969258 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:30969258T>C uc003xio.4 + 18 3004 c.2216T>C c.(2215-2217)gTt>gCt p.V739A WRN_uc010lvk.3_Missense_Mutation_p.V206A NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 739 DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TATTTAGAAGTTAGGCGAAAA 0.383000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 45 16 0 0 0.004990 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555107 178555107 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:178555107C>T uc003mjw.3 - 16 2572 c.2470G>A c.(2470-2472)Gga>Aga p.G824R NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 824 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G824V(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGGGTGTCTCCCACCGGGATG 0.577000 21 20 0 0 0.001523 0 0 SPTB 6710 broad.mit.edu 37 14 65271708 65271708 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:65271708C>T uc001xht.3 - 1 300 c.249G>A c.(247-249)cgG>cgA p.R83R SPTB_uc001xhr.3_Silent_p.R83R|SPTB_uc001xhs.3_Silent_p.R83R|SPTB_uc001xhu.3_Silent_p.R83R NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 83 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.R83L(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGCGCCCATCCCGCAGGTCCT 0.587000 22 46 0 0 0.003610 0 0 LRTM1 57408 broad.mit.edu 37 3 54959009 54959009 + Missense_Mutation SNP A C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:54959009A>C uc003dhl.3 - 1 375 c.241T>G c.(241-243)Ttg>Gtg p.L81V CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 81 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TTGTTGGACAAGTTTAAGGTC 0.448000 34 13 0 0 0.001855 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689692 88689692 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:88689692C>T uc010voz.2 + 10 2005 c.1805C>T c.(1804-1806)tCc>tTc p.S602F ZC3H18_uc002fky.3_Missense_Mutation_p.S578F|ZC3H18_uc010chw.3_Non-coding_Transcript NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 578 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CGGTCTTCATCCTACAGCTCC 0.652000 12 35 0 0 0.002836 0 0 DMKN 93099 broad.mit.edu 37 19 36001153 36001153 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:36001153C>T uc002nzm.4 - 6 1102 c.919_splice c.e6-1 p.G307_splice DMKN_uc002nzj.3_Splice_Site|DMKN_uc002nzl.4_Splice_Site_p.G20_splice|DMKN_uc002nzk.4_Splice_Site|DMKN_uc002nzo.4_Splice_Site_p.G246_splice|DMKN_uc002nzn.4_Splice_Site_p.G246_splice|DMKN_uc002nzu.2_Splice_Site|DMKN_uc002nzv.2_Splice_Site|DMKN_uc002nzw.2_Splice_Site|DMKN_uc002nzq.2_Splice_Site|DMKN_uc002nzp.2_Splice_Site|DMKN_uc002nzr.2_Splice_Site|DMKN_uc002nzs.2_Splice_Site|DMKN_uc002nzt.2_Splice_Site|DMKN_uc010xsw.2_Splice_Site_p.G20_splice|DMKN_uc010xsv.1_Splice_Site|DMKN_uc002nzx.4_Splice_Site|DMKN_uc002nzy.4_Splice_Site|DMKN_uc002nzz.3_Splice_Site_p.G307_splice|DMKN_uc002oaa.4_Splice_Site_p.G307_splice|DMKN_uc002oab.4_Splice_Site_p.G307_splice|DMKN_uc002oac.4_Splice_Site_p.G307_splice NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN Homo sapiens dermokine (DMKN), transcript variant 2, mRNA. 307 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTGCTGGATCCCTGCAGGGG 0.582000 OREG0025431 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 3 0 0 0.004672 0 0 VEPH1 79674 broad.mit.edu 37 3 157178109 157178109 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:157178109G>A uc003fbj.2 - 3 809 c.390C>T c.(388-390)atC>atT p.I130I VEPH1_uc003fbk.2_Silent_p.I130I|VEPH1_uc010hvu.2_Silent_p.I130I|VEPH1_uc021xgk.1_Silent_p.I130I|VEPH1_uc003fbn.3_Silent_p.I130I|VEPH1_uc003fbm.3_Silent_p.I130I NM_024621 NP_078897 Q14D04 MELT_HUMAN Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA. 130 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGCAATGGGGATGGCTAATG 0.423000 29 37 0 0 0.003755 0 0 FGB 2244 broad.mit.edu 37 4 155487143 155487143 + Missense_Mutation SNP C T T rs2227434 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:155487143C>T uc003ioa.4 + 1 337 c.298C>T c.(298-300)Cca>Tca p.P100S FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Intron NM_005141 NP_005132 P02675 FIBB_HUMAN Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA. 100 Missing (in New York-1).|P -> S (in dbSNP:rs2227434). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TCACGCTGACCCAGACCTGGT 0.532000 21 14 0 0 0.002450 0 0 GPR113 165082 broad.mit.edu 37 2 26539791 26539791 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:26539791C>T uc002rhe.4 - 3 491 c.491G>A c.(490-492)aGa>aAa p.R164K GPR113_uc010yky.1_Missense_Mutation_p.R95K|GPR113_uc002rhb.1_5'UTR|GPR113_uc010eyk.1_Missense_Mutation_p.R105K|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 164 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTTGTGAGTCTGAGGCCAGT 0.592000 18 20 0 0 0.001523 0 0 AIP 9049 broad.mit.edu 37 11 67258443 67258443 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:67258443C>T uc001olv.3 + 5 1097 c.972C>T c.(970-972)ttC>ttT p.F324F NM_003977 NP_003968 O00170 AIP_HUMAN Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA. 324 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 AAGCCCGGTTCCGGGGGATCT 0.662000 Familial Isolated Pituitary Adenoma 11 12 0 0 0.001855 0 0 ZNF485 220992 broad.mit.edu 37 10 44112785 44112785 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:44112785C>T uc010qfc.2 + 4 1488 c.1294C>T c.(1294-1296)Cat>Tat p.H432Y ZNF485_uc010qfd.2_Missense_Mutation_p.H341Y NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN Homo sapiens zinc finger protein 485 (ZNF485), mRNA. 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TAAGAAAATTCATAATAAAGA 0.358000 8 20 0 0 0.001523 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758752 62758752 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:62758752C>T uc011kdj.2 - 1 126 c.58G>A c.(58-60)Gac>Aac p.D20N Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA. ATAGCTATGTCTCTGAATGTC 0.403000 75 13 0 0 0.001882 0 0 RGL4 266747 broad.mit.edu 37 22 24036575 24036575 + Missense_Mutation SNP C G G rs143837743 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:24036575C>G uc002zxo.3 + 4 2211 c.954C>G c.(952-954)atC>atG p.I318M GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Non-coding_Transcript|GUSBP11_uc002zxm.3_Non-coding_Transcript|RGL4_uc002zxn.3_Missense_Mutation_p.I318M|RGL4_uc002zxp.1_Missense_Mutation_p.I182M|RGL4_uc002zxq.3_Missense_Mutation_p.I182M Q8IZJ4 RGDSR_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA. 318 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 TGCACGTCATCGTCTCTGCTC 0.572000 42 8 0 0 0.003080 0 0 KIAA0528 9847 broad.mit.edu 37 12 22659723 22659723 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:22659723G>A uc010sit.2 - 10 1303 c.1075C>T c.(1075-1077)Cct>Tct p.P359S KIAA0528_uc010sir.2_Missense_Mutation_p.P150S|KIAA0528_uc010sis.2_Missense_Mutation_p.P357S|KIAA0528_uc001rfq.3_Missense_Mutation_p.P357S|KIAA0528_uc010siu.2_Missense_Mutation_p.P357S|KIAA0528_uc001rfr.3_Missense_Mutation_p.P348S|KIAA0528_uc009ziy.1_Missense_Mutation_p.P359S NM_014802 NP_055617 Q86YS7 K0528_HUMAN Homo sapiens KIAA0528 (KIAA0528), mRNA. 357 protein binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AATCCAGGAGGAAATGCCGTC 0.368000 105 27 0 0 0.004656 0 0 TEKT3 64518 broad.mit.edu 37 17 15234783 15234783 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:15234783G>A uc002gon.3 - 2 307 c.120C>T c.(118-120)tcC>tcT p.S40S NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN Homo sapiens tektin 3 (TEKT3), mRNA. 40 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGGTCAAATTGGAGTGGGGAA 0.537000 37 18 0 0 0.004990 0 0 SCN10A 6336 broad.mit.edu 37 3 38739846 38739846 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:38739846G>A uc003ciq.3 - 26 4865 c.4865C>T c.(4864-4866)tCt>tTt p.S1622F NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1622 sensory perception voltage-gated sodium channel complex p.S1622F(2) 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) ACCGAAGATAGAGTAGATGAA 0.547000 84 34 0 0 0.003271 0 0 GRXCR1 389207 broad.mit.edu 37 4 43032542 43032542 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:43032542G>A uc003gwt.3 + 3 859 c.858G>A c.(856-858)aaG>aaA p.K286K NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 286 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGCGTTGTAAGAACTGTGCTG 0.378000 90 56 0 0 0.003610 0 0 ARSJ 79642 broad.mit.edu 37 4 114824226 114824226 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:114824226C>T uc003ibq.1 - 1 1892 c.1004G>A c.(1003-1005)gGa>gAa p.G335E ARSJ_uc010imu.1_Missense_Mutation_p.G335E|ARSJ_uc010imv.1_Missense_Mutation_p.G163E NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN Homo sapiens arylsulfatase family, member J (ARSJ), mRNA. 335 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) GTTACTCCCTCCTGCCGTAGG 0.463000 46 32 0 0 0.008361 0 0 C15orf55 256646 broad.mit.edu 37 15 34649449 34649450 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:34649449_34649450CC>TT uc010ucc.2 + 7 3622_3623 c.3240_3241CC>TT c.(3238-3243)tcccac>tcTTac p.H1081Y C15orf55_uc010ucd.2_Missense_Mutation_p.H1071Y|C15orf55_uc001zif.3_Missense_Mutation_p.H1053Y NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 1053 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) AGAGAGCATCCCACCTGCTCCC 0.564000 T """BRD3, BRD4""" lethal midline carcinoma 30 10 0 0 0.004672 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589325 140589325 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140589325C>T uc003liz.3 + 0 1035 c.846C>T c.(844-846)tcC>tcT p.S282S PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 282 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S282F(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATACCTTTTCCCATGCCTCAG 0.408000 90 27 0 0 0.003954 0 0 IFNA21 3452 broad.mit.edu 37 9 21166467 21166467 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:21166467G>A uc003zom.2 - 0 193 c.145C>T c.(145-147)Cct>Tct p.P49S NM_002175 NP_002166 P01568 IFN21_HUMAN Homo sapiens interferon, alpha 21 (IFNA21), mRNA. 49 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.P49H(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAGGAGAAAGGAGAGATTCTT 0.517000 22 78 0 0 0.003610 0 0 HIF3A 64344 broad.mit.edu 37 19 46838214 46838214 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:46838214C>T uc002peh.3 + 13 1914 c.1883C>T c.(1882-1884)aCc>aTc p.T628I HIF3A_uc021uwf.1_Missense_Mutation_p.T572I|HIF3A_uc002pej.2_Missense_Mutation_p.T415I|HIF3A_uc010xxy.2_Missense_Mutation_p.T559I|HIF3A_uc002pel.3_Missense_Mutation_p.T626I|HIF3A_uc010xxz.2_Missense_Mutation_p.T577I NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 628 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GACCCCAGCACCCCACTCCTG 0.597000 32 26 0 0 0.005443 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316469 39316469 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:39316469G>A uc002hwc.3 - 0 515 c.475C>T c.(475-477)Cat>Tat p.H159Y NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA. 159 keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TGGCCACAATGGGGCCTGTAG 0.617000 15 30 0 0 0.002096 0 0 SSH3 54961 broad.mit.edu 37 11 67072263 67072263 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:67072263C>T uc001okj.3 + 2 302 c.124C>T c.(124-126)Cgt>Tgt p.R42C SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_5'UTR NM_017857 NP_060327 Q8TE77 SSH3_HUMAN Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA. 42 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGCGGTGCTCCGTGGGGCTGT 0.592000 9 12 0 0 0.000978 0 0 XDH 7498 broad.mit.edu 37 2 31560586 31560586 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:31560586A>G uc002rnv.1 - 34 3951 c.3872T>C c.(3871-3873)gTg>gCg p.V1291A NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1291 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAGTTCCTTCACGTTATTACC 0.567000 36 52 0 0 0.003610 0 0 KCMF1 56888 broad.mit.edu 37 2 85270737 85270738 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:85270737_85270738GG>AA uc002sox.4 + 3 719_720 c.375_376GG>AA c.(373-378)acggat>acAAat p.D126N NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA. 126 intracellular ligase activity|zinc ion binding ovary(3) 3 ATCATGTCACGGATGACTTTGC 0.381000 19 15 0 0 0.004672 0 0 UNC93A 54346 broad.mit.edu 37 6 167717489 167717489 + Missense_Mutation SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:167717489G>T uc003qvq.3 + 4 883 c.708G>T c.(706-708)aaG>aaT p.K236N UNC93A_uc003qvr.3_Missense_Mutation_p.K194N NM_018974 NP_061847 Q86WB7 UN93A_HUMAN Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA. 236 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) aaggagagaagaaatcagtac 0.473000 35 19 1.67942e-08 1.86141e-08 0.006122 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801739 185801739 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:185801739G>A uc002uph.3 + 3 2210 c.1616G>A c.(1615-1617)gGa>gAa p.G539E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 539 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGTGATTCTGGAAAAAATGAG 0.343000 30 11 0 0 0.008291 0 0 LUZP1 7798 broad.mit.edu 37 1 23417786 23417786 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:23417786G>A uc001bgk.2 - 3 3519 c.2969C>T c.(2968-2970)tCc>tTc p.S990F LUZP1_uc010odv.1_Missense_Mutation_p.S990F|LUZP1_uc001bgl.3_Missense_Mutation_p.S990F|LUZP1_uc001bgm.1_Missense_Mutation_p.S990F NM_033631 NP_361013 Q86V48 LUZP1_HUMAN Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA. 990 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GGTCCTTCTGGAGGAGGGCTC 0.577000 29 16 0 0 0.004007 0 0 FAM64A 54478 broad.mit.edu 37 17 6350821 6350821 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:6350821G>A uc002gcw.2 + 2 442 c.333G>A c.(331-333)ctG>ctA p.L111L FAM64A_uc002gcu.2_Silent_p.L111L NM_001195228 NP_001182157 Q9BSJ6 FA64A_HUMAN Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA. 111 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) CCAAGTGGCTGGTGGAGACCC 0.587000 87 25 0 0 0.003954 0 0 ANAPC1 64682 broad.mit.edu 37 2 112592251 112592251 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:112592251C>T uc002thi.3 - 18 2561 c.2314G>A c.(2314-2316)Gag>Aag p.E772K NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 772 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 NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AACTTAAGCTCCTCATACACA 0.378000 25 9 0 0 0.006214 0 0 TNNC2 7125 broad.mit.edu 37 20 44453199 44453199 + Missense_Mutation SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:44453199C>G uc002xpr.3 - 2 200 c.134G>C c.(133-135)aGg>aCg p.R45T NM_003279 NP_003270 P02585 TNNC2_HUMAN Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA. 45 EF-hand 1. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) GCCCAGCATCCTCATCACCGT 0.617000 41 29 0 0 0.001786 0 0 PHC1 1911 broad.mit.edu 37 12 9086523 9086523 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9086523C>T uc001qvd.3 + 8 2112 c.1956C>T c.(1954-1956)gtC>gtT p.V652V PHC1_uc010sgn.1_3'UTR|PHC1_uc001qve.3_Silent_p.V652V NM_004426 NP_004417 P78364 PHC1_HUMAN Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA. 652 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 GAGATGATGTCTCCACATTGG 0.468000 27 26 0 0 0.004656 0 0 ACVR1C 130399 broad.mit.edu 37 2 158406693 158406693 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:158406693G>A uc002tzk.4 - 3 999 c.756C>T c.(754-756)ttC>ttT p.F252F ACVR1C_uc002tzl.4_Silent_p.F172F|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Silent_p.F202F NM_145259 NP_001104501 Q8NER5 ACV1C_HUMAN Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA. 252 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CAGCAGCAATGAAACCAAGGA 0.388000 45 26 0 0 0.007291 0 0 LRP1B 53353 broad.mit.edu 37 2 141777598 141777598 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:141777598C>T uc002tvj.1 - 11 2835 c.1863G>A c.(1861-1863)agG>agA p.R621R LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 621 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) TAATGGTTTTCCTATGGCCAT 0.418000 TSP Lung(27;0.18) 60 26 0 0 0.008361 0 0 TLL1 7092 broad.mit.edu 37 4 167012279 167012280 + Splice_Site DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:167012279_167012280GG>AA uc003irh.2 + 19 3090 c.2443_splice c.e19-1 p.A815_splice TLL1_uc011cjn.2_Splice_Site_p.A838_splice|TLL1_uc011cjo.2_Splice_Site_p.A639_splice NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 815 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ttttaaaaaaGGCCTTTAGTGA 0.302000 11 7 0 0 0.004672 0 0 CHRNA4 1137 broad.mit.edu 37 20 61990991 61990991 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:61990991G>A uc002yes.2 - 1 315 c.137C>T c.(136-138)tCc>tTc p.S46F CHRNA4_uc002yet.1_Intron|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA. 46 B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GTTGTAACCGGAGAAGAGTTT 0.652000 33 23 0 0 0.008361 0 0 GNA15 2769 broad.mit.edu 37 19 3155863 3155863 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:3155863G>A uc002lxf.2 + 4 915 c.657G>A c.(655-657)tgG>tgA p.W219* NM_002068 NP_002059 P30679 GNA15_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA. 219 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GTAAGAAATGGATCCATTGTT 0.597000 23 16 0 0 0.004990 0 0 AGXT 189 broad.mit.edu 37 2 241808382 241808383 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:241808382_241808383CC>TT uc002waa.4 + 0 221_222 c.100_101CC>TT c.(100-102)cct>TTt p.P34F AGXT_uc010zoi.1_Missense_Mutation_p.P34F NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 34 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity p.L33Q(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTCCAACCTGCCTCCTCGCATC 0.649000 40 20 0 0 0.004672 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22347999 22347999 + Silent SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:22347999T>C uc003svg.3 - 4 493 c.180A>G c.(178-180)caA>caG p.Q60Q NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 0 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GAGGCACAAGTTGCAGTAAAA 0.398000 11 4 0 0 0.001168 0 0 FGF21 26291 broad.mit.edu 37 19 49259616 49259616 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:49259616G>A uc002pkn.1 + 1 695 c.123G>A c.(121-123)ggG>ggA p.G41G FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkl.1_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.G41G NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN Homo sapiens fibroblast growth factor 21 (FGF21), mRNA. 41 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TGCAATTCGGGGGCCAAGTCC 0.632000 27 12 0 0 0.001855 0 0 TCEA3 6920 broad.mit.edu 37 1 23724446 23724446 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:23724446G>A uc021oig.1 - 5 581 c.446C>T c.(445-447)tCa>tTa p.S149L TCEA3_uc021oih.1_Missense_Mutation_p.S128L NM_003196 NP_003187 O75764 TCEA3_HUMAN Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA. 149 Ser-rich. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) GCTGCTGTTTGATCTGAGGAT 0.458000 19 12 0 0 0.001855 0 0 C10orf113 387638 broad.mit.edu 37 10 21414812 21414812 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:21414812G>A uc001iqm.3 - 1 459 c.408C>T c.(406-408)ttC>ttT p.F136F NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 136 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TTATGCCCTGGAATTTAAATC 0.433000 43 20 0 0 0.001882 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739689 34739689 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:34739689G>A uc021tho.1 - 2 c.370C>T LOC100130700_uc002edy.3_Non-coding_Transcript Homo sapiens uncharacterized LOC100130700 (LOC100130700), non-coding RNA. ATGTCCCACGGAGATTCTGCT 0.388000 7 13 0 0 0.001368 0 0 PLG 5340 broad.mit.edu 37 6 161160199 161160199 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:161160199G>A uc003qtm.4 + 15 2089 c.1977G>A c.(1975-1977)ttG>ttA p.L659L NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 659 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCTGTTCTTGGAGCCCACAC 0.493000 15 50 0 0 0.003610 0 0 ETV1 2115 broad.mit.edu 37 7 13935631 13935631 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:13935631G>A uc021zzz.1 - 11 1381 c.1294C>T c.(1294-1296)Cca>Tca p.P432S ETV1_uc021zzt.1_Missense_Mutation_p.P392S|ETV1_uc021zzu.1_Missense_Mutation_p.P329S|ETV1_uc021zzv.1_Missense_Mutation_p.P374S|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.P414S|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.P409S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 432 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTCAGCAGTGGACGCTGATTA 0.498000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 20 25 0 0 0.003330 0 0 NES 10763 broad.mit.edu 37 1 156641395 156641395 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:156641395G>A uc001fpq.3 - 3 2718 c.2585C>T c.(2584-2586)cCt>cTt p.P862L NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 862 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTTTCTAGAGGATTCATTGC 0.453000 72 78 0 0 0.003610 0 0 RYR3 6263 broad.mit.edu 37 15 33925182 33925182 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:33925182C>T uc001zhi.3 + 23 2970 c.2900C>T c.(2899-2901)cCt>cTt p.P967L RYR3_uc010bar.3_Missense_Mutation_p.P967L NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 967 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGCCAGCCCCTTTGGATTTG 0.368000 70 24 0 0 0.008361 0 0 SCN11A 11280 broad.mit.edu 37 3 38927694 38927694 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:38927694C>T uc021wvy.1 - 15 3070 c.2871G>A c.(2869-2871)acG>acA p.T957T SCN11A_uc010hhn.1_Intron NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 957 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTCTCTGGCTCGTGGGCTTCT 0.443000 34 29 0 0 0.001786 0 0 RYR1 6261 broad.mit.edu 37 19 38959954 38959954 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:38959954C>T uc002oit.3 + 26 3696 c.3566C>T c.(3565-3567)cCc>cTc p.P1189L RYR1_uc002oiu.3_Missense_Mutation_p.P1189L NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1189 6 X approximate repeats.|B30.2/SPRY 2. 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) GGCTTCCTGCCCGTCTGCAGC 0.652000 57 17 0 0 0.004007 0 0 SNTG2 54221 broad.mit.edu 37 2 1243529 1243529 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:1243529G>A uc002qwq.3 + 10 998 c.869G>A c.(868-870)tGc>tAc p.C290Y SNTG2_uc010ewi.3_Missense_Mutation_p.C163Y NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 290 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GCGAACAAATGCTGCTCTCCT 0.478000 17 9 0 0 0.008291 0 0 OR6N1 128372 broad.mit.edu 37 1 158736272 158736272 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:158736272G>A uc010piq.2 - 0 201 c.201C>T c.(199-201)tcC>tcT p.S67S NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L66I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCTCTGAGAAGGAGAGAATGC 0.498000 83 26 0 0 0.007291 0 0 TOX 9760 broad.mit.edu 37 8 59851871 59851871 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:59851871G>A uc003xtw.1 - 2 622 c.401C>T c.(400-402)tCc>tTc p.S134F NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 134 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CACAGAAATGGAATTAGAAAG 0.473000 42 35 0 0 0.004878 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43591154 43591154 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:43591154C>T uc002lbp.4 - 4 443 c.347G>A c.(346-348)cGa>cAa p.R116Q PSTPIP2_uc002lbq.4_Missense_Mutation_p.R116Q NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 116 membrane p.Q115*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 AACCTTTTTTCGTTGTAGTTT 0.428000 103 78 0 0 0.003610 0 0 CALCR 799 broad.mit.edu 37 7 93101800 93101800 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:93101800C>T uc003umv.2 - 7 671 c.371_splice c.e7-1 p.E124_splice CALCR_uc003umt.1_Splice_Site|CALCR_uc003ums.1_Splice_Site|CALCR_uc022ahi.1_Splice_Site_p.E106_splice|CALCR_uc003umw.2_Splice_Site_p.E106_splice NM_001164737 NP_001158209 P30988 CALCR_HUMAN Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA. 106 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTAACCTTTTCTGTTAATGAA 0.308000 48 9 0 0 0.004482 0 0 NELL1 4745 broad.mit.edu 37 11 21592418 21592418 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:21592418C>T uc009yid.3 + 18 2326 c.2173C>T c.(2173-2175)Caa>Taa p.Q725* NELL1_uc010rdp.2_Nonsense_Mutation_p.Q410*|NELL1_uc001mqe.3_Nonsense_Mutation_p.Q697*|NELL1_uc001mqf.3_Nonsense_Mutation_p.Q650*|NELL1_uc010rdo.2_Nonsense_Mutation_p.Q640*|NELL1_uc001mqh.3_Nonsense_Mutation_p.Q242* NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 697 VWFC 4. 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 ATGTTTAGACCAAAATGGTCA 0.473000 79 67 0 0 0.003610 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959875 102959875 + Splice_Site SNP A C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:102959875A>C uc002tbu.1 + 8 1241 c.970_splice c.e8+1 p.I324_splice IL1RL1_uc010ywa.2_Missense_Mutation_p.S207R|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.S324R NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 324 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GAAAAATCCAAGTAAGGAGTG 0.443000 52 59 0 0 0.003610 0 0 BIRC8 112401 broad.mit.edu 37 19 53793072 53793072 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53793072C>T uc002qbk.3 - 0 1804 c.556G>A c.(556-558)Gag>Aag p.E186K NM_033341 NP_203127 Q96P09 BIRC8_HUMAN Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA. 186 apoptosis zinc ion binding p.E186K(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) CAAAGCTTCTCCTCTTGCAGA 0.433000 39 21 0 0 0.008871 0 0 ADAM29 11086 broad.mit.edu 37 4 175898197 175898197 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:175898197G>A uc003iuc.3 + 4 2191 c.1521G>A c.(1519-1521)agG>agA p.R507R ADAM29_uc003iud.3_Silent_p.R507R|ADAM29_uc010irr.3_Silent_p.R507R|ADAM29_uc011cki.2_Silent_p.R507R|ADAM29_uc021xuo.1_Silent_p.R507R NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 507 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGTGTAGGAGGATTTTTGGTG 0.448000 40 50 0 0 0.003610 0 0 KDM2B 84678 broad.mit.edu 37 12 121947408 121947409 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:121947408_121947409CC>TT uc001uat.3 - 10 1712_1713 c.1608_1609GG>AA c.(1606-1611)gagggc>gaAAgc p.G537S KDM2B_uc001uar.3_Missense_Mutation_p.G128S|KDM2B_uc001uas.3_Missense_Mutation_p.G506S|KDM2B_uc021rfd.1_Missense_Mutation_p.G506S|KDM2B_uc001uau.3_Missense_Mutation_p.G420S|KDM2B_uc021rfe.1_Missense_Mutation_p.G537S|KDM2B_uc001uav.4_Missense_Mutation_p.G447S NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 537 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCCTCGATGCCCTCGGGGACAC 0.629000 41 24 0 0 0.004672 0 0 SVEP1 79987 broad.mit.edu 37 9 113173882 113173882 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:113173882G>A uc010mtz.3 - 36 6446 c.6109C>T c.(6109-6111)Cgg>Tgg p.R2037W SVEP1_uc010mty.3_5'UTR NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2037 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCAAAGAGCCGATGGGCAGTC 0.572000 4 16 0 0 0.004990 0 0 MYH15 22989 broad.mit.edu 37 3 108129561 108129561 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:108129561G>A uc003dxa.1 - 31 4481 c.4424C>T c.(4423-4425)tCc>tTc p.S1475F NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1475 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CAACGCCTGGGACTCCTCGTG 0.597000 41 11 0 0 0.001368 0 0 COL11A1 1301 broad.mit.edu 37 1 103388915 103388915 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:103388915C>T uc001dum.3 - 46 3985 c.3667G>A c.(3667-3669)Gaa>Aaa p.E1223K COL11A1_uc001duk.3_Missense_Mutation_p.E407K|COL11A1_uc001dul.3_Missense_Mutation_p.E1211K|COL11A1_uc001dun.3_Missense_Mutation_p.E1172K|COL11A1_uc009weh.3_Missense_Mutation_p.E1095K NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1211 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCCCATTTTCACCTTTTTCA 0.343000 8 4 0 0 0.000248 0 0 PCOLCE 5118 broad.mit.edu 37 7 100200132 100200132 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:100200132C>T uc003uvo.3 + 0 251 c.53C>T c.(52-54)gCc>gTc p.A18V LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_Missense_Mutation_p.A18V NM_002593 NP_002584 Q15113 PCOC1_HUMAN Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA. 18 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACTGCCTGCGCCCTGCTGCCT 0.642000 38 70 0 0 0.003610 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018580 161018580 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:161018580T>C uc001fxl.3 - 11 2577 c.2231A>G c.(2230-2232)gAt>gGt p.D744G USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D590G|ARHGAP30_uc009wtx.3_Missense_Mutation_p.D417G NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 744 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TTCCTTCTCATCTGTATACTC 0.488000 204 52 0 0 0.003610 0 0 LEPR 3953 broad.mit.edu 37 1 66067139 66067139 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:66067139C>T uc001dci.3 + 8 1448 c.1059C>T c.(1057-1059)atC>atT p.I353I LEPR_uc001dcg.3_Silent_p.I353I|LEPR_uc001dch.3_Silent_p.I353I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I353I|LEPR_uc001dcj.3_Silent_p.I353I|LEPR_uc001dck.3_Silent_p.I353I NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 353 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCACTGCATCTATAAGAAGG 0.363000 24 37 0 0 0.005524 0 0 SLC25A36 55186 broad.mit.edu 37 3 140695203 140695203 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:140695203C>T uc003etr.2 + 6 1079 c.844C>T c.(844-846)Cgt>Tgt p.R282C SLC25A36_uc003ets.2_Missense_Mutation_p.R281C|SLC25A36_uc003etq.2_Missense_Mutation_p.R125C|SLC25A36_uc011bmz.1_Missense_Mutation_p.R256C NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA. 282 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 GTCTCTTTATCGTGGTCTGAC 0.403000 37 12 0 0 0.000978 0 0 EPHA6 285220 broad.mit.edu 37 3 97466295 97466295 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:97466295G>A uc010how.1 + 16 3200 c.3157G>A c.(3157-3159)Gaa>Aaa p.E1053K EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 958 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGAAGTTCCGGAATATCCTTT 0.398000 12 5 0 0 0.000602 0 0 SLFN11 91607 broad.mit.edu 37 17 33690205 33690205 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:33690205G>A uc002hjg.4 - 1 869 c.622C>T c.(622-624)Cct>Tct p.P208S SLFN11_uc010ctr.3_Missense_Mutation_p.P208S|SLFN11_uc010ctp.3_Missense_Mutation_p.P208S|SLFN11_uc010ctq.3_Missense_Mutation_p.P208S|SLFN11_uc002hjh.4_Missense_Mutation_p.P208S NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 208 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGAGACTCAGGAAAAGGCAGG 0.413000 61 28 0 0 0.006320 0 0 ILDR1 286676 broad.mit.edu 37 3 121720271 121720271 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:121720271C>T uc003ees.3 - 4 733 c.530G>A c.(529-531)gGa>gAa p.G177E ILDR1_uc003eeq.3_Missense_Mutation_p.G189E|ILDR1_uc003eer.3_Missense_Mutation_p.G177E|ILDR1_uc010hrg.3_Intron NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 177 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GAGGAGGGCTCCCAGGATGAT 0.547000 26 6 0 0 0.001168 0 0 C4orf40 401137 broad.mit.edu 37 4 71024285 71024285 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:71024285C>T uc003hfa.4 + 3 389 c.316C>T c.(316-318)Cct>Tct p.P106S C4orf40_uc003hfb.4_Missense_Mutation_p.P106S NM_214711 NP_999876 Q6MZM9 CD040_HUMAN Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA. 106 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCCTCTCCCTCCTAGGGGTTT 0.527000 149 109 0 0 0.003610 0 0 CEACAM5 1048 broad.mit.edu 37 19 42225069 42225069 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:42225069T>C uc002orl.3 + 7 2120 c.1999T>C c.(1999-2001)Tcc>Ccc p.S667P CEACAM5_uc002orj.1_Missense_Mutation_p.S666P NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 667 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGCAATAATTCCATAGTCAA 0.468000 48 16 0 0 0.004990 0 0 UTP14C 9724 broad.mit.edu 37 13 52603485 52603485 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:52603485C>T uc001vgb.3 + 1 1107 c.545C>T c.(544-546)cCc>cTc p.P182L UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.P182L NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA. 182 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GCAAGAACTCCCCTGGAGCAG 0.532000 57 40 0 0 0.006230 0 0 PLCB4 5332 broad.mit.edu 37 20 9449315 9449315 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:9449315G>A uc021wam.1 + 31 3325 c.3310G>A c.(3310-3312)Gaa>Aaa p.E1104K PLCB4_uc010gbx.3_Missense_Mutation_p.E1116K|PLCB4_uc021wal.1_Missense_Mutation_p.E1104K|PLCB4_uc002wnh.3_Missense_Mutation_p.E951K NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 1104 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGCAGAACGGGAAAGGTAAGT 0.418000 40 32 0 0 0.001786 0 0 NPFFR2 10886 broad.mit.edu 37 4 73003804 73003804 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:73003804G>A uc003hgg.2 + 2 780 c.682G>A c.(682-684)Gga>Aga p.G228R NPFFR2_uc010iig.2_Missense_Mutation_p.G10R|NPFFR2_uc003hgi.2_Missense_Mutation_p.G129R|NPFFR2_uc003hgh.2_Missense_Mutation_p.G126R NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 228 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ATTGGTCCAGGGAATATCTGT 0.398000 33 25 0 0 0.001786 0 0 PLAG1 5324 broad.mit.edu 37 8 57079149 57079149 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:57079149G>A uc003xsq.4 - 2 1607 c.1156C>T c.(1156-1158)Cct>Tct p.P386S PLAG1_uc003xsr.4_Missense_Mutation_p.P386S|PLAG1_uc010lyi.3_Missense_Mutation_p.P386S|PLAG1_uc010lyj.3_Missense_Mutation_p.P304S|PLAG1_uc022aur.1_Missense_Mutation_p.P304S NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 386 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P386H(1) CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CCAATCTGAGGATCCAACCCT 0.483000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 48 70 0 0 0.003610 0 0 CCDC87 55231 broad.mit.edu 37 11 66359618 66359618 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:66359618G>A uc001oiq.4 - 0 937 c.869C>T c.(868-870)cCt>cTt p.P290L CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 290 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GGGGGCCACAGGATAGCTGGG 0.597000 61 42 0 0 0.003610 0 0 SKAP2 8935 broad.mit.edu 37 7 26724414 26724414 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:26724414C>T uc003syc.3 - 10 1221 c.928G>A c.(928-930)Gga>Aga p.G310R SKAP2_uc011jzi.2_Missense_Mutation_p.G138R|SKAP2_uc011jzj.2_Missense_Mutation_p.G295R NM_003930 NP_003921 O75563 SKAP2_HUMAN Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA. 310 SH3. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 GAAAAAGCTCCAGTACAATCC 0.378000 36 9 0 0 0.008291 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49663151 49663151 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:49663151G>A uc001jgu.3 - 5 1031 c.734C>T c.(733-735)tCc>tTc p.S245F ARHGAP22_uc001jgs.3_Missense_Mutation_p.S139F|ARHGAP22_uc001jgt.3_Missense_Mutation_p.S229F|ARHGAP22_uc010qgl.2_Missense_Mutation_p.S186F|ARHGAP22_uc010qgm.2_Missense_Mutation_p.S235F|ARHGAP22_uc001jgv.3_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 229 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTCAGCAGGGAGGCCACCGT 0.657000 14 9 0 0 0.000978 0 0 NCK2 8440 broad.mit.edu 37 2 106497949 106497949 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:106497949C>T uc002tdg.3 + 3 668 c.392C>T c.(391-393)tCc>tTc p.S131F NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.S131F NM_003581 NP_003572 O43639 NCK2_HUMAN Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA. 131 SH3 2. T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GATGAGTTGTCCCTGGTGAAG 0.642000 36 14 0 0 0.002450 0 0 NBPF10 100132406 broad.mit.edu 37 1 145360584 145360584 + Missense_Mutation SNP G A A rs78186669 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:145360584G>A uc021oul.1 + 73 9244 c.9209G>A c.(9208-9210)gGg>gAg p.G3070E NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3070 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGAGAAAGGGCCTGAAGTC 0.483000 74 5 0 0 0.001984 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070111 141070111 + Silent SNP T C C rs139643347 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:141070111T>C uc010ncq.3 + 3 1191 c.351T>C c.(349-351)tcT>tcC p.S117S Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. p.S75S(1) CCATGGACTCTGTGCGCTCGG 0.697000 64 4 0 0 0.001984 0 0 OR1N2 138882 broad.mit.edu 37 9 125316149 125316149 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:125316149C>T uc011lyx.2 + 0 701 c.701C>T c.(700-702)tCc>tTc p.S234F NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 ATCGTCTTCTCCTATGTCCGC 0.522000 15 65 0 0 0.003610 0 0 RPAP1 26015 broad.mit.edu 37 15 41819137 41819137 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:41819137G>A uc001zod.3 - 13 2000 c.1876C>T c.(1876-1878)Cgt>Tgt p.R626C NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 626 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCCAGGACACGAAGTAGTTTC 0.572000 61 87 0 0 0.003610 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540838 133540838 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:133540838G>A uc002ttp.3 - 13 3920 c.3546C>T c.(3544-3546)tcC>tcT p.S1182S NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1182 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCACAGCCACGGAACTTTTGG 0.488000 30 19 0 0 0.007413 0 0 CSMD3 114788 broad.mit.edu 37 8 113988153 113988153 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:113988153G>A uc003ynu.3 - 6 1414 c.1255C>T c.(1255-1257)Cca>Tca p.P419S CSMD3_uc003ynt.3_Missense_Mutation_p.P379S|CSMD3_uc011lhx.2_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 419 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTATCTGCTGGATGAGGAGAG 0.468000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 67 29 0 0 0.007291 0 0 FBN3 84467 broad.mit.edu 37 19 8174214 8174214 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8174214G>A uc002mjf.3 - 34 4532 c.4515C>T c.(4513-4515)tcC>tcT p.S1505S NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1505 TB 6. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGGCACTGCAGGAAATGCCAC 0.602000 27 31 0 0 0.002445 0 0 ZP1 22917 broad.mit.edu 37 11 60637245 60637245 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:60637245C>T uc001nqd.3 + 2 574 c.554C>T c.(553-555)cCa>cTa p.P185L ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 185 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCACTGGACCCAGGGCACAGC 0.622000 32 19 0 0 0.006122 0 0 C3 718 broad.mit.edu 37 19 6697719 6697719 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:6697719C>T uc002mfm.3 - 19 2589 c.2527G>A c.(2527-2529)Gag>Aag p.E843K NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 843 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.N842N(1) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCCACCTGCTCGTTTCGAACA 0.587000 15 24 0 0 0.002780 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375235 8375235 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:8375235G>A uc001qui.2 - 6 1137 c.578C>T c.(577-579)tCc>tTc p.S193F FAM90A1_uc001quh.2_Missense_Mutation_p.S193F NM_018088 NP_060558 Q86YD7 F90A1_HUMAN Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA. 193 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) ACTTGAGGAGGAGCTCAGACT 0.597000 43 36 0 0 0.006999 0 0 PITPNM3 83394 broad.mit.edu 37 17 6441394 6441394 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:6441394G>A uc002gdd.4 - 1 182 c.31C>T c.(31-33)Ccc>Tcc p.P11S PITPNM3_uc010cln.3_Missense_Mutation_p.P11S NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA. 11 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CCGCCCGGGGGAGGACCACCT 0.557000 14 15 0 0 0.006122 0 0 MGAM 8972 broad.mit.edu 37 7 141734562 141734562 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:141734562G>A uc003vwy.3 + 15 1934 c.1880G>A c.(1879-1881)gGa>gAa p.G627E NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 627 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CATTGGTTAGGAGACAACACT 0.522000 12 37 0 0 0.004878 0 0 CALN1 83698 broad.mit.edu 37 7 71275429 71275429 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:71275429G>A uc003twb.4 - 5 941 c.550C>T c.(550-552)Cat>Tat p.H184Y CALN1_uc003twa.4_Missense_Mutation_p.H142Y|CALN1_uc003twc.4_Missense_Mutation_p.H142Y NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 142 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.H142Y(1)|p.Q183K(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CGGAAGGCATGATAGAGAATG 0.448000 42 66 0 0 0.003610 0 0 DYSF 8291 broad.mit.edu 37 2 71741043 71741043 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:71741043G>A uc010fen.3 + 6 892 c.751G>A c.(751-753)Gat>Aat p.D251N DYSF_uc010fei.3_Missense_Mutation_p.D250N|DYSF_uc010feh.3_Missense_Mutation_p.D219N|DYSF_uc002sig.4_Missense_Mutation_p.D219N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D250N|DYSF_uc010fee.3_Missense_Mutation_p.D219N|DYSF_uc010fef.3_Missense_Mutation_p.D250N|DYSF_uc002sie.3_Missense_Mutation_p.D219N|DYSF_uc010feo.3_Missense_Mutation_p.D251N|DYSF_uc010fej.3_Missense_Mutation_p.D220N|DYSF_uc010fel.3_Missense_Mutation_p.D220N|DYSF_uc010fem.3_Missense_Mutation_p.D220N|DYSF_uc002sif.3_Missense_Mutation_p.D220N|DYSF_uc010fek.3_Missense_Mutation_p.D251N NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 219 C2 2. 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 CAAACCGCAGGATTTCCAGGT 0.572000 24 5 0 0 0.000602 0 0 COL24A1 255631 broad.mit.edu 37 1 86591026 86591026 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:86591026C>T uc001dlj.3 - 2 1068 c.993G>A c.(991-993)ggG>ggA p.G331G COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Silent_p.G331G NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 331 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGGCCTGAATCCCATGGTTTG 0.418000 43 12 0 0 0.000978 0 0 OR52I2 143502 broad.mit.edu 37 11 4608339 4608339 + Silent SNP G A A rs145090174 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4608339G>A uc010qyh.2 + 0 319 c.297G>A c.(295-297)gtG>gtA p.V99V NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V99V(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 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) TGGCTGCTGTGGACATTGTTA 0.483000 227 55 0 0 0.003610 0 0 LAMA2 3908 broad.mit.edu 37 6 129371187 129371187 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:129371187G>A uc021zfb.1 + 1 342 c.237G>A c.(235-237)agG>agA p.R79R LAMA2_uc003qbn.3_Silent_p.R79R|LAMA2_uc003qbo.3_Silent_p.R79R NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 79 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGCCTGTGAGGAACCCGCAGT 0.453000 4 24 0 0 0.004656 0 0 ABCA8 10351 broad.mit.edu 37 17 66890438 66890438 + Missense_Mutation SNP G A A rs143022668 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:66890438G>A uc002jhq.3 - 22 3252 c.2912C>T c.(2911-2913)tCg>tTg p.S971L ABCA8_uc002jhp.3_Missense_Mutation_p.S931L|ABCA8_uc010wqq.2_Missense_Mutation_p.S971L|ABCA8_uc010wqr.2_Missense_Mutation_p.S910L|ABCA8_uc002jhr.3_Missense_Mutation_p.S971L NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 931 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCATGCTAACGAAAAGCTGTA 0.313000 22 9 0 0 0.008291 0 0 NRXN1 9378 broad.mit.edu 37 2 50847263 50847263 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:50847263G>A uc021vhh.1 - 6 2138 c.1217C>T c.(1216-1218)aCc>aTc p.T406I NRXN1_uc002rxb.4_Missense_Mutation_p.T78I|NRXN1_uc021vhg.1_Missense_Mutation_p.T446I|NRXN1_uc021vhi.1_Missense_Mutation_p.T442I|NRXN1_uc021vhj.1_Missense_Mutation_p.T402I|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 406 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCCCAGCATGGTATAATCTTC 0.478000 16 17 0 0 0.004990 0 0 MUSK 4593 broad.mit.edu 37 9 113547266 113547266 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:113547266G>A uc022blv.1 + 11 1690 c.1556G>A c.(1555-1557)cGa>cAa p.R519Q MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R430Q|MUSK_uc022blu.1_Missense_Mutation_p.R420Q NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 519 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R519Q(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TATTGCTGCCGAAGAAGAAAA 0.358000 51 27 0 0 0.008361 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763875 14763875 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:14763875G>A uc010dlo.2 + 6 1191 c.1011G>A c.(1009-1011)agG>agA p.R337R ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.R337R NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 337 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAACACCTAGGAAAATTTTGA 0.418000 10 3 0 0 0.004672 0 0 KRTAP19-4 337971 broad.mit.edu 37 21 31869219 31869219 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:31869219C>T uc011acz.2 - 0 210 c.210G>A c.(208-210)acG>acA p.T70T NM_181610 NP_853641 Q3LI73 KR194_HUMAN Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA. 70 intermediate filament central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCTCTGATATCGTGTCCTCAG 0.408000 22 69 0 0 0.003610 0 0 VGLL3 389136 broad.mit.edu 37 3 87017746 87017746 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:87017746C>T uc003dqn.3 - 2 1295 c.931G>A c.(931-933)Gat>Aat p.D311N NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.D311N(2) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TTACCTGTATCGAATCCCACG 0.393000 36 4 0 0 0.000248 0 0 FLG2 388698 broad.mit.edu 37 1 152324245 152324245 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152324245C>T uc001ezw.4 - 2 6090 c.6017G>A c.(6016-6018)aGa>aAa p.R2006K AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2006 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGCCATGTCTAGTGGTATC 0.527000 255 149 0 0 0.003610 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481622 27481622 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:27481622G>A uc002dov.2 - 30 4661 c.4621C>T c.(4621-4623)Cgt>Tgt p.R1541C GTF3C1_uc002dou.3_Missense_Mutation_p.R1541C NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1541 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 AAAGAGAAACGATCAGGCTGG 0.522000 116 74 0 0 0.003610 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581450 140581450 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140581450C>T uc003liy.3 + 0 2103 c.2103C>T c.(2101-2103)ttC>ttT p.F701F NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 701 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCGCTCTTCCTCTTCTCGG 0.692000 88 47 0 0 0.003610 0 0 AGXT2 64902 broad.mit.edu 37 5 35026524 35026524 + Missense_Mutation SNP T G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35026524T>G uc003jjf.3 - 7 1104 c.861A>C c.(859-861)gaA>gaC p.E287D AGXT2_uc003jje.1_5'Flank|AGXT2_uc011com.2_Missense_Mutation_p.E287D NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA. 287 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CTTGAATAGGTTCTGCGAAAA 0.358000 30 9 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9086535 9086535 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9086535C>T uc002mkp.3 - 0 5484 c.5280G>A c.(5278-5280)gtG>gtA p.V1760V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1760 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTATGAATTCCACATCAGGAG 0.498000 58 16 0 0 0.003163 0 0 OR4D2 124538 broad.mit.edu 37 17 56247483 56247483 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56247483C>T uc010wnp.2 + 0 467 c.467C>T c.(466-468)tCt>tTt p.S156F NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TTTGTCCACTCTATTGTCCAG 0.567000 125 45 0 0 0.002522 0 0 TTN 7273 broad.mit.edu 37 2 179569645 179569645 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179569645C>T uc021vsy.1 - 100 26146 c.25921G>A c.(25921-25923)Gaa>Aaa p.E8641K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5302K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9568 Ig-like 69. 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) GATACAAGTTCCTCAAATTCC 0.308000 74 64 0 0 0.003610 0 0 PTPRT 11122 broad.mit.edu 37 20 41306689 41306689 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:41306689C>T uc002xkg.3 - 6 1154 c.970G>A c.(970-972)Gaa>Aaa p.E324K PTPRT_uc010ggj.3_Missense_Mutation_p.E324K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 324 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TATTCCACTTCCTTCAGGATG 0.567000 87 19 0 0 0.001523 0 0 BTN2A2 10385 broad.mit.edu 37 6 26390244 26390244 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:26390244C>T uc003nht.3 + 4 869 c.736C>T c.(736-738)Ccc>Tcc p.P246S BTN2A2_uc003nhs.3_Missense_Mutation_p.P246S|BTN2A2_uc011dkf.2_Missense_Mutation_p.P130S|BTN2A2_uc003nhq.3_Missense_Mutation_p.P246S|BTN2A2_uc003nhr.3_Missense_Mutation_p.P130S|BTN2A2_uc011dkh.2_Missense_Mutation_p.P36S|BTN2A2_uc011dkg.2_Missense_Mutation_p.P152S|BTN2A2_uc011dki.1_5'UTR NM_001197237 NP_001184166 Q8WVV5 BT2A2_HUMAN Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA. 246 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 ATCCTTTATGCCCAGCGCATC 0.493000 102 51 0 0 0.003610 0 0 GPR116 221395 broad.mit.edu 37 6 46847774 46847774 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:46847774C>T uc003oyo.3 - 8 1106 c.817G>A c.(817-819)Gaa>Aaa p.E273K GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.E273K|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.E273K NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 273 Ig-like 1.|SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AAATTGCTTTCATCTGGAAAC 0.423000 32 9 0 0 0.006214 0 0 EPHA6 285220 broad.mit.edu 37 3 97356763 97356763 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:97356763G>A uc010how.1 + 13 2664 c.2621G>A c.(2620-2622)cGa>cAa p.R874Q EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.R266Q|EPHA6_uc003drr.4_Missense_Mutation_p.R266Q|EPHA6_uc003drt.3_Missense_Mutation_p.R266Q|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 779 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGAATGCTCCGAGGCATTGCA 0.423000 119 52 0 0 0.003610 0 0 REXO1L1 254958 broad.mit.edu 37 8 86574480 86574480 + Missense_Mutation SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:86574480C>G uc022axf.1 - 0 1247 c.1247G>C c.(1246-1248)cGt>cCt p.R416P NM_172239 NP_758439 Q8IX06 GOR_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA. 416 GOR1-125 epitope. cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 GGTGCCACAACGGCAGCAGAC 0.682000 31 3 0 0 0.004672 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045235 76045235 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:76045235C>T uc002jud.2 + 3 692 c.92C>T c.(91-93)cCt>cTt p.P31L TNRC6C_uc002juf.2_Missense_Mutation_p.P31L|TNRC6C_uc002jue.2_Missense_Mutation_p.P31L NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA. 31 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation RNA binding|nucleotide binding 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) GTCCAAAGCCCTTCTAATCAG 0.562000 49 30 0 0 0.001786 0 0 KIF3A 11127 broad.mit.edu 37 5 132056301 132056301 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:132056301G>A uc011cxf.2 - 5 770 c.616_splice c.e5+1 p.R206_splice KIF3A_uc003kxn.3_Splice_Site_p.R165_splice|KIF3A_uc003kxo.3_Splice_Site_p.R206_splice|KIF3A_uc003kxp.3_Splice_Site_p.R206_splice NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN Homo sapiens kinesin family member 3A (KIF3A), mRNA. 206 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding p.R206C(2) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATACTTACGATTTTTGTGG 0.363000 7 9 0 0 0.004482 0 0 SORBS1 10580 broad.mit.edu 37 10 97096831 97096831 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:97096831G>A uc001kkp.3 - 27 3131 c.3086C>T c.(3085-3087)cCc>cTc p.P1029L SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P983L|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 1029 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AGACAGGGAGGGACTGGCCCT 0.592000 6 36 0 0 0.005524 0 0 CCDC34 91057 broad.mit.edu 37 11 27362301 27362301 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:27362301C>T uc001mrh.1 - 4 903 c.849G>A c.(847-849)gcG>gcA p.A283A NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN Homo sapiens coiled-coil domain containing 34 (CCDC34), transcript variant 1, mRNA. 283 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 GTTTATGTTTCGCATTTTCCA 0.358000 59 36 0 0 0.005524 0 0 DENND3 22898 broad.mit.edu 37 8 142176349 142176349 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:142176349G>A uc003yvy.3 + 11 1652 c.1374G>A c.(1372-1374)aaG>aaA p.K458K DENND3_uc010mep.3_Silent_p.K419K|DENND3_uc003yvz.1_Silent_p.K142K NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 458 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCTCCCGGAAGTCCTCGCACC 0.542000 118 43 0 0 0.002522 0 0 KCNU1 157855 broad.mit.edu 37 8 36793308 36793308 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:36793308G>A uc010lvw.3 + 26 3407 c.3320G>A c.(3319-3321)tGg>tAg p.W1107* NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 1107 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CAAATAGCATGGAATCAGAGT 0.378000 93 43 0 0 0.003610 0 0 MYBPC3 4607 broad.mit.edu 37 11 47372982 47372982 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:47372982C>T uc021qis.1 - 1 155 c.100G>A c.(100-102)Gag>Aag p.E34K MYBPC3_uc021qir.1_5'UTR NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 34 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CCTGCCCGCTCTGTCTCGGCC 0.642000 11 10 0 0 0.001855 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039580 55039580 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:55039580C>T uc003pcl.3 + 0 510 c.195C>T c.(193-195)ttC>ttT p.F65F HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 65 feeding behavior integral to plasma membrane neuropeptide receptor activity p.F65F(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCATCGTGTTCGTCGTGGCTC 0.597000 40 41 0 0 0.002852 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067514 11067514 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:11067514C>T uc010hdq.3 + 8 1316 c.905C>T c.(904-906)tCc>tTc p.S302F NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 302 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GGCCTGGGGTCCCTGATCGCT 0.537000 77 22 0 0 0.003330 0 0 CENPE 1062 broad.mit.edu 37 4 104096030 104096030 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:104096030G>A uc003hxb.1 - 15 1600 c.1510C>T c.(1510-1512)Cgt>Tgt p.R504C CENPE_uc003hxc.1_Missense_Mutation_p.R504C NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 504 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 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) TAGTCAGCACGAAGTGAGTTC 0.269000 4 4 0 0 0.000248 0 0 TCRVA15 0 broad.mit.edu 37 14 22205223 22205223 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:22205223C>T uc001wbp.2 + 1 336 c.287C>T c.(286-288)tCc>tTc p.S96F TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript SubName: Full=Tcell alpha chain; Flags: Fragment; CCCCGGGTTTCCCTGAGCGAC 0.532000 19 10 0 0 0.001368 0 0 CNR1 1268 broad.mit.edu 37 6 88853935 88853935 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:88853935G>A uc010kbz.3 - 1 1189 c.1059C>T c.(1057-1059)atC>atT p.I353I CNR1_uc011dzr.2_Silent_p.I353I|CNR1_uc011dzs.2_Silent_p.I353I|CNR1_uc003pmq.4_Silent_p.I353I|CNR1_uc011dzt.2_Silent_p.I353I|CNR1_uc010kca.3_Silent_p.I320I|CNR1_uc021zco.1_Silent_p.I353I NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 353 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CCCAGCAGATGATCAACACCA 0.527000 111 26 0 0 0.003330 0 0 SGCZ 137868 broad.mit.edu 37 8 14412356 14412356 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:14412356C>T uc003wwq.3 - 1 779 c.119G>A c.(118-120)gGa>gAa p.G40E SGCZ_uc010lss.3_Missense_Mutation_p.G27E NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 27 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TCCATAAATTCCCACTGGGTA 0.383000 110 24 0 0 0.004656 0 0 MED12 9968 broad.mit.edu 37 X 70341598 70341598 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:70341598C>T uc004dyy.3 + 6 1232 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S MED12_uc011mpq.1_Missense_Mutation_p.P345S|MED12_uc004dyz.3_Missense_Mutation_p.P345S|MED12_uc004dza.3_Missense_Mutation_p.P192S NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 345 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ACCCTCGACTCCCTTTAGTGA 0.557000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 10 36 0 0 0.005524 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814923 106814923 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:106814923C>T uc003ymd.3 + 7 2636 c.2613C>T c.(2611-2613)gcC>gcT p.A871A ZFPM2_uc011lhs.2_Silent_p.A602A NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 871 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACTATCTGGCCCACAAGCAGA 0.507000 19 9 0 0 0.004482 0 0 ACOT11 26027 broad.mit.edu 37 1 55063070 55063070 + Missense_Mutation SNP T G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:55063070T>G uc001cxm.2 + 6 922 c.746T>G c.(745-747)gTg>gGg p.V249G ACOT11_uc001cxj.2_Missense_Mutation_p.V127G|ACOT11_uc001cxk.3_Missense_Mutation_p.V215G|ACOT11_uc001cxl.2_Missense_Mutation_p.V249G NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 249 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 ATGGAGAATGTGGCCACCATT 0.632000 9 8 0 0 0.004482 0 0 DNAH11 8701 broad.mit.edu 37 7 21856294 21856294 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:21856294G>A uc003svc.3 + 64 10594 c.10563G>A c.(10561-10563)ctG>ctA p.L3521L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3521 AAA 5 (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 GAATGGACCTGAAAGTCACAC 0.448000 Kartagener syndrome 21 28 0 0 0.001786 0 0 NEB 4703 broad.mit.edu 37 2 152484039 152484039 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:152484039C>T uc021vrb.1 - 63 9441 c.9412G>A c.(9412-9414)Gat>Aat p.D3138N NEB_uc002txu.3_Missense_Mutation_p.D3381N|NEB_uc021vrc.1_Missense_Mutation_p.D3381N|NEB_uc010fnx.3_Missense_Mutation_p.D3126N|NEB_uc021vrd.1_Missense_Mutation_p.D3138N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3138 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTACTCACATCGCTCTGGAGG 0.473000 120 41 0 0 0.002222 0 0 UNC13D 201294 broad.mit.edu 37 17 73827385 73827385 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:73827385T>A uc002jpp.3 - 25 2872 c.2492A>T c.(2491-2493)gAg>gTg p.E831V UNC13D_uc010wsk.1_Missense_Mutation_p.E831V|UNC13D_uc002jpq.1_3'UTR NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 831 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCGGCCGCCTCCACCAGCAC 0.662000 Familial Hemophagocytic Lymphohistiocytosis 45 10 0 0 0.008291 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052300 55052300 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:55052300C>T uc003dhf.3 + 34 2991 c.2943C>T c.(2941-2943)acC>acT p.T981T CACNA2D3_uc003dhg.1_Silent_p.T887T|CACNA2D3_uc003dhh.1_Non-coding_Transcript NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 981 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTGAGCGCACCATCAAGGAGA 0.478000 20 8 0 0 0.006214 0 0 abParts 0 broad.mit.edu 37 14 106610532 106610532 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:106610532G>A uc021ser.1 - 1671 c.32039C>T Parts of antibodies, mostly variable regions. TACTGAAAGTGAATCCAGAGG 0.577000 7 28 0 0 0.002445 0 0 SPEG 10290 broad.mit.edu 37 2 220354408 220354408 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:220354408G>A uc010fwg.3 + 35 8668 c.8668G>A c.(8668-8670)Ggg>Agg p.G2890R NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2890 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CACTCCTCAAGGGGTTAAACC 0.617000 126 50 0 0 0.003610 0 0 TNPO3 23534 broad.mit.edu 37 7 128626824 128626824 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:128626824G>A uc010lly.2 - 11 2154 c.1751C>T c.(1750-1752)tCc>tTc p.S584F TNPO3_uc010llx.2_5'Flank|TNPO3_uc003vol.2_Missense_Mutation_p.S550F|TNPO3_uc010llz.2_Intron|TNPO3_uc003vom.2_Missense_Mutation_p.S484F NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 550 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CAACAGGAAGGAATCGAGGGA 0.488000 69 24 0 0 0.004656 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73020361 73020361 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:73020361G>A uc001otu.3 + 0 699 c.678G>A c.(676-678)ggG>ggA p.G226G ARHGEF17_uc021qnc.1_Silent_p.G226G NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 226 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CGCAGGCCGGGGCCCGGGCCT 0.692000 38 24 0 0 0.003954 0 0 OR8G2 26492 broad.mit.edu 37 11 124096099 124096099 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:124096099C>T uc010saf.2 + 0 702 c.702C>T c.(700-702)atC>atT p.I234I NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 234 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ACATCTTTATCATTGCCAGCA 0.498000 18 45 0 0 0.003610 0 0 SSX7 280658 broad.mit.edu 37 X 52681972 52681972 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:52681972C>T uc004dqx.1 - 2 291 c.132G>A c.(130-132)gaG>gaA p.E44E NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA. 44 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) AGCTGATTTTCTCCAAGGATT 0.378000 8 32 0 0 0.002836 0 0 DPYD 1806 broad.mit.edu 37 1 98187204 98187204 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:98187204C>T uc001drv.3 - 4 482 c.345G>A c.(343-345)atG>atA p.M115I DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.M115I NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 115 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGAAAATATCATCTTAGCAG 0.333000 53 16 0 0 0.004990 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350739 134350739 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:134350739C>T uc003qem.1 - 1 395 c.224G>A c.(223-225)aGc>aAc p.S75N NM_145176 NP_660159 Q8TD20 GTR12_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA. 75 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) CTCATGGCAGCTCAGGGCTAA 0.527000 5 34 0 0 0.002445 0 0 AFF4 27125 broad.mit.edu 37 5 132234065 132234065 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:132234065G>A uc003kyd.3 - 9 1654 c.1246C>T c.(1246-1248)Cat>Tat p.H416Y AFF4_uc011cxk.2_Missense_Mutation_p.H94Y|AFF4_uc003kye.1_Missense_Mutation_p.H416Y NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 416 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCACTATTATGGTGTGAAGGT 0.388000 21 27 0 0 0.005443 0 0 LPHN2 23266 broad.mit.edu 37 1 82408712 82408712 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:82408712G>A uc001dit.4 + 5 638 c.457G>A c.(457-459)Gaa>Aaa p.E153K LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.E153K|LPHN2_uc001div.3_Missense_Mutation_p.E153K|LPHN2_uc009wcd.3_Missense_Mutation_p.E153K NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 153 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATATGAAGCTGAACAAAAGGC 0.403000 46 40 0 0 0.007835 0 0 SLC5A10 125206 broad.mit.edu 37 17 18923669 18923669 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:18923669C>T uc002gut.1 + 14 1805 c.1764C>T c.(1762-1764)ttC>ttT p.F588F SLC5A10_uc002gur.1_Silent_p.F542F|SLC5A10_uc002guu.1_Silent_p.F572F|SLC5A10_uc002guv.1_Silent_p.F545F|SLC5A10_uc010vyl.1_Silent_p.F536F NM_152351 NP_689564 A0PJK1 SC5AA_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA. 572 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 AACACGCCTTCTGGGCCCGTG 0.542000 42 56 0 0 0.003610 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748831 43748832 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:43748831_43748832GG>AA uc001zrs.3 - 11 2107_2108 c.1959_1960CC>TT c.(1957-1962)caccat>caTTat p.H654Y TP53BP1_uc010udp.2_Missense_Mutation_p.H654Y|TP53BP1_uc001zrq.4_Missense_Mutation_p.H659Y|TP53BP1_uc001zrr.4_Missense_Mutation_p.H659Y|TP53BP1_uc010udq.1_Missense_Mutation_p.H659Y NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 654 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCCTCTGGATGGTGTTCTTTAA 0.475000 Other conserved DNA damage response genes 92 24 0 0 0.004672 0 0 LMAN2 10960 broad.mit.edu 37 5 176764160 176764160 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:176764160G>A uc003mge.3 - 5 1004 c.767C>T c.(766-768)tCc>tTc p.S256F NM_006816 NP_006807 Q12907 LMAN2_HUMAN Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA. 256 L-type lectin-like. protein transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGCCGGCGGAGGCCCCGAA 0.642000 19 15 0 0 0.006122 0 0 MYO18B 84700 broad.mit.edu 37 22 26422964 26422964 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:26422964G>A uc003abz.1 + 42 7274 c.7024G>A c.(7024-7026)Gaa>Aaa p.E2342K MYO18B_uc003aca.1_Missense_Mutation_p.E2223K|MYO18B_uc010guy.1_Missense_Mutation_p.E2224K|MYO18B_uc010guz.1_Missense_Mutation_p.E2222K|MYO18B_uc011aka.1_Missense_Mutation_p.E1496K|MYO18B_uc011akb.1_Missense_Mutation_p.E1855K|MYO18B_uc010gva.1_Missense_Mutation_p.E325K|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2342 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTACTCCCCGAAAAGTCGAA 0.562000 57 47 0 0 0.003610 0 0 SLC6A13 6540 broad.mit.edu 37 12 369215 369215 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:369215C>T uc001qic.2 - 1 94 c.4G>A c.(4-6)Gat>Aat p.D2N SLC6A13_uc009zdj.2_Missense_Mutation_p.D2N|SLC6A13_uc010sdl.2_Missense_Mutation_p.D2N|SLC6A13_uc001qid.2_Missense_Mutation_p.D2N NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 2 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) ACCCTGCTATCCATCCCACCT 0.507000 68 61 0 0 0.003610 0 0 MERTK 10461 broad.mit.edu 37 2 112779006 112779006 + Missense_Mutation SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:112779006G>T uc002thk.1 + 16 2319 c.2197G>T c.(2197-2199)Gat>Tat p.D733Y MERTK_uc002thl.1_Missense_Mutation_p.D557Y NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 733 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TAGGTTGCGAGATGACATGAC 0.458000 54 21 5.45024e-15 6.07346e-15 0.003330 1 0 CEL 1056 broad.mit.edu 37 9 135942234 135942234 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:135942234C>T uc010naa.1 + 5 704 c.688C>T c.(688-690)Ccc>Tcc p.P230S NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 227 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GACCCTCTCCCCCTACAACAA 0.642000 18 64 0 0 0.003610 0 0 CLEC10A 10462 broad.mit.edu 37 17 6982116 6982116 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:6982116C>T uc002gek.3 - 1 319 c.16G>A c.(16-18)Gaa>Aaa p.E6K CLEC10A_uc002gej.3_Missense_Mutation_p.E6K|CLEC10A_uc010clv.2_Missense_Mutation_p.E6K NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA. 6 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 TGGAAGTTTTCATACGTCCTT 0.498000 129 52 0 0 0.003610 0 0 PROKR2 128674 broad.mit.edu 37 20 5283198 5283198 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:5283198C>T uc010zqw.2 - 1 651 c.643G>A c.(643-645)Gat>Aat p.D215N PROKR2_uc010zqx.2_Missense_Mutation_p.D215N|PROKR2_uc010zqy.2_Missense_Mutation_p.D215N NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 215 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGCTGCTGATCCACAGGCCAG 0.517000 HNSCC(71;0.22) 53 41 0 0 0.006230 0 0 ZBP1 81030 broad.mit.edu 37 20 56186787 56186787 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:56186787G>A uc002xyo.3 - 5 1151 c.870C>T c.(868-870)ccC>ccT p.P290P ZBP1_uc010gjm.3_Silent_p.P289P|ZBP1_uc002xyp.3_Silent_p.P215P NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA. 290 cytoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) AGTTACCTGGGGGGCTGCCAG 0.612000 16 21 0 0 0.002780 0 0 GABRA2 2555 broad.mit.edu 37 4 46252598 46252598 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:46252598C>T uc011bzc.1 - 9 1510 c.1098G>A c.(1096-1098)atG>atA p.M366I GABRA2_uc003gxc.3_Missense_Mutation_p.M361I|GABRA2_uc010igc.2_Missense_Mutation_p.M361I P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 389 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTTCTGTATCATAACGGAAG 0.398000 88 68 0 0 0.003610 0 0 CNGA2 1260 broad.mit.edu 37 X 150907032 150907032 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:150907032C>T uc004fey.1 + 1 301 c.77C>T c.(76-78)gCc>gTc p.A26V NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 26 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GCCATCAAGGCCAATGGCAAA 0.502000 32 19 0 0 0.007413 0 0 RHOH 399 broad.mit.edu 37 4 40245215 40245215 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:40245215C>T uc003guz.2 + 2 933 c.209C>T c.(208-210)cCc>cTc p.P70L RHOH_uc021xnp.1_Missense_Mutation_p.P70L NM_004310 NP_004301 Q15669 RHOH_HUMAN Homo sapiens ras homolog gene family, member H (RHOH), mRNA. 70 T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity p.R69R(1)|p.R69Q(1) kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 AGCATCCGGCCCCTGTCCTAC 0.547000 22 28 0 0 0.008361 0 0 CD163 9332 broad.mit.edu 37 12 7635276 7635276 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:7635276G>A uc001qsz.3 - 13 3338 c.3210C>T c.(3208-3210)ttC>ttT p.F1070F CD163_uc001qta.3_Silent_p.F1070F|CD163_uc009zfw.2_Silent_p.F1103F NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1070 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTTAGTCAAGAAGAATAATG 0.423000 88 61 0 0 0.003610 0 0 TMEM63C 57156 broad.mit.edu 37 14 77718140 77718140 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:77718140C>T uc001xtf.2 + 21 2259 c.2047C>T c.(2047-2049)Cac>Tac p.H683Y TMEM63C_uc010asq.1_Missense_Mutation_p.H683Y NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 683 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) AGGTTCTCTCCACGCCATCAC 0.567000 48 26 0 0 0.006320 0 0 NEU3 10825 broad.mit.edu 37 11 74716559 74716559 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:74716559C>T uc001ovw.3 + 2 564 c.408C>T c.(406-408)ttC>ttT p.F136F NEU3_uc001ovv.3_Silent_p.F126F|NEU3_uc010rrl.2_Silent_p.F27F NM_006656 NP_006647 A8K327 A8K327_HUMAN Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA. 136 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 TGTTCCTGTTCTTCATCTGTG 0.562000 26 34 0 0 0.002445 0 0 CACNA1S 779 broad.mit.edu 37 1 201028335 201028335 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:201028335G>A uc001gvv.3 - 26 3734 c.3507C>T c.(3505-3507)ctC>ctT p.L1169L NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1169 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGAAGGCCATGAGCTTGAGGA 0.577000 12 31 0 0 0.002836 0 0 OR51M1 390059 broad.mit.edu 37 11 5411279 5411279 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:5411279C>T uc010qzc.2 + 0 673 c.651C>T c.(649-651)ttC>ttT p.F217F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 217 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTAGTTTTCACTGTGATGC 0.537000 46 38 0 0 0.003755 0 0 SLC22A2 6582 broad.mit.edu 37 6 160662605 160662605 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:160662605G>A uc003qtf.3 - 8 1576 c.1402C>T c.(1402-1404)Cac>Tac p.H468Y NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 468 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAACAGATGTGGACGCCAAGA 0.468000 6 34 0 0 0.003755 0 0 NLRP13 126204 broad.mit.edu 37 19 56424631 56424631 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:56424631C>T uc010ygg.2 - 4 577 c.552G>A c.(550-552)atG>atA p.M184I NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 184 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTTCAGCCTTCATGTTCTCTC 0.433000 123 34 0 0 0.004289 0 0 TBX4 9496 broad.mit.edu 37 17 59560639 59560639 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:59560639G>A uc010ddo.3 + 8 1566 c.1403G>A c.(1402-1404)gGa>gAa p.G468E TBX4_uc002izi.3_Missense_Mutation_p.G467E|TBX4_uc010woy.2_Missense_Mutation_p.G468E NM_018488 NP_060958 P57082 TBX4_HUMAN Homo sapiens T-box 4 (TBX4), mRNA. 467 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CAGCCACCAGGAAATGCCCAC 0.647000 54 38 0 0 0.006230 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739163 91739163 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:91739163C>T uc010aty.3 - 29 6047 c.5893G>A c.(5893-5895)Gga>Aga p.G1965R CCDC88C_uc001xzj.3_Missense_Mutation_p.G489R|CCDC88C_uc001xzi.3_Missense_Mutation_p.G415R NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1965 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) ACCCCGTCTCCCTCTGAGAGG 0.726000 14 11 0 0 0.001368 0 0 DSG4 147409 broad.mit.edu 37 18 28970666 28970666 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:28970666C>T uc002kwr.2 + 5 700 c.565C>T c.(565-567)Cat>Tat p.H189Y DSG4_uc002kwq.2_Missense_Mutation_p.H189Y NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 189 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGAAGAAAATCATCTGAATTC 0.408000 72 16 0 0 0.004990 0 0 PCDH18 54510 broad.mit.edu 37 4 138451383 138451383 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:138451383T>C uc003ihe.4 - 0 2247 c.1860A>G c.(1858-1860)atA>atG p.I620M PCDH18_uc003ihf.4_Missense_Mutation_p.I613M|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.I400M|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 620 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TACCTGCTACTATGGCGCAGC 0.448000 143 101 0 0 0.003610 0 0 BZRAP1 9256 broad.mit.edu 37 17 56387343 56387343 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56387343C>T uc002ivx.4 - 20 4747 c.3876G>A c.(3874-3876)agG>agA p.R1292R BZRAP1_uc010dcs.3_Silent_p.R1232R|BZRAP1_uc010wnt.2_Silent_p.R1292R NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1292 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCCATTCTCCCTGATGCTGT 0.612000 45 30 0 0 0.003755 0 0 DPEP1 1800 broad.mit.edu 37 16 89703949 89703949 + Missense_Mutation SNP C T T rs139832614 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:89703949C>T uc010cin.3 + 7 1045 c.842C>T c.(841-843)tCc>tTc p.S281F DPEP1_uc002fnr.4_Missense_Mutation_p.S281F|DPEP1_uc002fns.4_Missense_Mutation_p.S281F NM_001128141 NP_004404 P16444 DPEP1_HUMAN Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA. 281 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GCCAACCTGTCCCAAGTGGCC 0.577000 71 28 0 0 0.005443 0 0 DNAH7 56171 broad.mit.edu 37 2 196799425 196799425 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:196799425C>T uc002utj.4 - 20 3462 c.3361G>A c.(3361-3363)Gaa>Aaa p.E1121K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1121 Stem (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 ACCTCTCCTTCGCTGCTCTTC 0.403000 42 55 0 0 0.003610 0 0 PPEF2 5470 broad.mit.edu 37 4 76794331 76794331 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:76794331G>A uc003hix.3 - 11 1812 c.1455C>T c.(1453-1455)atC>atT p.I485I PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.I485I NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 485 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CATGTGAACGGATCAGGAATT 0.478000 51 34 0 0 0.002836 0 0 LUM 4060 broad.mit.edu 37 12 91502014 91502014 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:91502014C>T uc001tbm.3 - 1 1132 c.743G>A c.(742-744)gGa>gAa p.G248E NM_002345 NP_002336 P51884 LUM_HUMAN Homo sapiens lumican (LUM), mRNA. 248 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 GAAAGAATTTCCAGGTATTCC 0.383000 45 39 0 0 0.007835 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030446 10030446 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:10030446C>T uc002wno.3 + 6 1622 c.1229C>T c.(1228-1230)tCg>tTg p.S410L LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.S410L|ANKRD5_uc010gbz.3_Missense_Mutation_p.S221L NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 410 calcium ion binding breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 GTCTTAGGATCGTATGGACCT 0.408000 58 34 0 0 0.003755 0 0 ERBB4 2066 broad.mit.edu 37 2 212652844 212652844 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:212652844G>A uc002veg.1 - 3 560 c.462C>T c.(460-462)ttC>ttT p.F154F ERBB4_uc002veh.1_Silent_p.F154F|ERBB4_uc010zji.1_Silent_p.F154F|ERBB4_uc010zjj.1_Silent_p.F154F|ERBB4_uc010fut.1_Silent_p.F154F NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 154 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CATAACAAAGGAATTTGTTCT 0.353000 TSP Lung(8;0.080) 15 19 0 0 0.006122 0 0 ZNF165 7718 broad.mit.edu 37 6 28056993 28056993 + Silent SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:28056993T>C uc021yro.1 + 3 2030 c.1203T>C c.(1201-1203)ggT>ggC p.G401G ZNF165_uc003nkh.3_Silent_p.G401G|ZNF165_uc003nki.4_Silent_p.G401G|ZSCAN12P1_uc003nkj.4_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN Homo sapiens zinc finger protein 165 (ZNF165), mRNA. 401 viral reproduction 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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GACCCTTTGGTTGCAAAGAAT 0.448000 69 39 0 0 0.007835 0 0 HUS1 3364 broad.mit.edu 37 7 48018031 48018031 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:48018031T>A uc003tod.2 - 2 446 c.340A>T c.(340-342)Acg>Tcg p.T114S NM_004507 NP_004498 O60921 HUS1_HUMAN Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA. 114 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1) 13 Breast(660;0.00139) ACGGAGACCGTGAGGCAGGGA 0.448000 Direct reversal of damage;Other conserved DNA damage response genes 46 37 0 0 0.003755 0 0 COL6A3 1293 broad.mit.edu 37 2 238243405 238243405 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:238243405G>A uc002vwl.2 - 40 9378 c.9093C>T c.(9091-9093)tcC>tcT p.S3031S COL6A3_uc002vwo.2_Silent_p.S2825S|COL6A3_uc010znj.1_Silent_p.S2424S|COL6A3_uc002vwj.2_Silent_p.S412S NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 3031 Fibronectin type-III.|Nonhelical region. 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) TCAGAACCAGGGACTGATCAT 0.572000 34 20 0 0 0.001882 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185379 39185379 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:39185379C>T uc003cjg.3 - 4 1151 c.937G>A c.(937-939)Gag>Aag p.E313K CSRNP1_uc003cjh.3_Missense_Mutation_p.E313K NM_033027 NP_149016 Q96S65 CSRN1_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA. 313 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 GCAGGGGCCTCCAGCTCCCTA 0.602000 27 8 0 0 0.003080 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76389293 76389293 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:76389293C>T uc002fex.1 + 1 423 c.284C>T c.(283-285)aCc>aTc p.T95I CNTNAP4_uc002feu.1_Missense_Mutation_p.T91I|CNTNAP4_uc002fev.1_Missense_Mutation_p.T4I|CNTNAP4_uc010chb.1_Missense_Mutation_p.T67I|CNTNAP4_uc002few.2_Missense_Mutation_p.T67I NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 92 F5/8 type C. 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 ATGGAGGTCACCGCTGTGGCC 0.483000 46 13 0 0 0.001855 0 0 OPRK1 4986 broad.mit.edu 37 8 54147319 54147319 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:54147319C>T uc003xrh.1 - 2 985 c.610_splice c.e2+1 p.D204_splice OPRK1_uc022aup.1_Splice_Site_p.D84_splice|OPRK1_uc003xri.1_Splice_Site_p.D204_splice|OPRK1_uc010lyc.1_Splice_Site_p.D115_splice NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 204 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CTGCTCTTACCTTCCCTGACT 0.413000 48 7 0 0 0.003080 0 0 DZIP3 9666 broad.mit.edu 37 3 108363029 108363029 + Missense_Mutation SNP A T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:108363029A>T uc003dxd.3 + 13 1582 c.1160A>T c.(1159-1161)aAg>aTg p.K387M DZIP3_uc003dxf.1_Missense_Mutation_p.K387M|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.K387M|DZIP3_uc003dxg.1_Missense_Mutation_p.K110M NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA. 387 protein polyubiquitination cytoplasm RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CCTATCTTCAAGCTTGATTAT 0.323000 27 23 0 0 0.003330 0 0 PCDH17 27253 broad.mit.edu 37 13 58208628 58208628 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:58208628C>T uc001vhq.1 + 0 2840 c.1948C>T c.(1948-1950)Cct>Tct p.P650S PCDH17_uc010aec.1_Missense_Mutation_p.P650S NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 650 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CACGCTGCACCCTTTCTGGGA 0.647000 105 59 0 0 0.003610 0 0 KIAA1804 84451 broad.mit.edu 37 1 233490664 233490664 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233490664G>A uc001hvt.4 + 3 1479 c.1218G>A c.(1216-1218)atG>atA p.M406I KIAA1804_uc001hvs.1_Missense_Mutation_p.M406I NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 406 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) GGGCAGTGATGACTGAGATGC 0.388000 55 61 0 0 0.003610 0 0 ABCA6 23460 broad.mit.edu 37 17 67094154 67094154 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:67094154G>A uc002jhw.1 - 22 3202 c.3027C>T c.(3025-3027)ctC>ctT p.L1009L NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1009 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ACCCAGTCCAGAGTCCTATGT 0.348000 33 15 0 0 0.004007 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913522 47913522 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:47913522C>T uc003tny.2 - 23 3905 c.3871G>A c.(3871-3873)Gga>Aga p.G1291R NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1291 REJ. cell-cell adhesion integral to membrane p.G1291R(2) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAGTCATTTCCATGGTAGCGG 0.517000 62 8 0 0 0.004482 0 0 WNK4 65266 broad.mit.edu 37 17 40933287 40933287 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:40933287G>A uc002ibj.3 + 0 639 c.571G>A c.(571-573)Ggg>Agg p.G191R WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 191 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGTGTATCGAGGGCTAGACAC 0.617000 42 11 0 0 0.000978 0 0 NR1H4 9971 broad.mit.edu 37 12 100928794 100928794 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:100928794C>T uc001tht.2 + 3 783 c.755C>T c.(754-756)tCa>tTa p.S252L NR1H4_uc001thq.2_Missense_Mutation_p.S242L|NR1H4_uc001thp.2_Missense_Mutation_p.S238L|NR1H4_uc001thr.2_Missense_Mutation_p.S242L|NR1H4_uc010svk.2_Missense_Mutation_p.S191L|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.S248L NM_001206993 NP_001193922 Q96RI1 NR1H4_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA. 252 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 ACAACAAAGTCATGCAGGGTA 0.463000 18 28 0 0 0.002096 0 0 VPS39 23339 broad.mit.edu 37 15 42476896 42476896 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:42476896C>T uc001zpd.3 - 8 721 c.570G>A c.(568-570)gtG>gtA p.V190V VPS39_uc001zpc.3_Silent_p.V179V NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 190 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CCTTTCCATCCACCTATAGGA 0.493000 65 23 0 0 0.003330 0 0 PTPRB 5787 broad.mit.edu 37 12 70928359 70928359 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:70928359C>T uc001swb.4 - 28 5653 c.5623G>A c.(5623-5625)Gaa>Aaa p.E1875K BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.E1785K|PTPRB_uc010stp.2_Missense_Mutation_p.E1785K|PTPRB_uc001swc.4_Missense_Mutation_p.E2093K|PTPRB_uc001swa.4_Missense_Mutation_p.E2005K NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1875 Tyrosine-protein phosphatase. 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) TGGGTGGTTTCTGGGACTCCA 0.532000 11 10 0 0 0.001368 0 0 ZNF521 25925 broad.mit.edu 37 18 22807313 22807313 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:22807313T>A uc002kvk.2 - 3 816 c.569A>T c.(568-570)aAg>aTg p.K190M ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K190M|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 190 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TAAGTGGATCTTCAAGTGATC 0.488000 T PAX5 ALL 37 38 0 0 0.004878 0 0 MST1P2 11209 broad.mit.edu 37 1 16976585 16976585 + RNA SNP C T T rs1135350 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:16976585C>T uc010och.2 + 13 c.2306C>T MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. TACGGGGGCCCACTTGCCTGC 0.567000 55 4 0 0 0.003080 0 0 HAS3 3038 broad.mit.edu 37 16 69148696 69148696 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:69148696G>A uc010cfh.3 + 3 1413 c.1189G>A c.(1189-1191)Gtt>Att p.V397I HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Missense_Mutation_p.V397I NM_001199280 NP_001186209 O00219 HAS3_HUMAN Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA. 397 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CATTGCCACGGTTATACAGCT 0.547000 112 24 0 0 0.006320 0 0 HECW2 57520 broad.mit.edu 37 2 197183308 197183308 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:197183308C>T uc002utm.1 - 8 2489 c.2306G>A c.(2305-2307)gGg>gAg p.G769E HECW2_uc002utl.1_Missense_Mutation_p.G413E NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 769 Interaction with TP73. 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 GGCAGTTGCCCCTTCACAGGT 0.622000 27 27 0 0 0.008361 0 0 C6orf222 389384 broad.mit.edu 37 6 36287321 36287322 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:36287321_36287322CC>TT uc003oly.3 - 10 1912_1913 c.1734_1735GG>AA c.(1732-1737)ctggta>ctAAta p.V579I NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 579 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 AGGGTGGCTACCAGCTTGCTGA 0.520000 53 40 0 0 0.004672 0 0 FPR3 2359 broad.mit.edu 37 19 52327427 52327427 + Silent SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:52327427C>A uc002pxt.1 + 1 610 c.426C>A c.(424-426)gcC>gcA p.A142A FPR3_uc021uyq.1_Silent_p.A142A NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 142 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 TGAGTCTGGCCAAGAGGGTGA 0.483000 38 12 0.000978159 0.00108068 0.000978 1 0 CCDC62 84660 broad.mit.edu 37 12 123286060 123286060 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:123286060C>T uc001udc.3 + 8 1529 c.1367C>T c.(1366-1368)tCt>tTt p.S456F CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.S217F|CCDC62_uc021rfn.1_Missense_Mutation_p.S271F NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 456 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) CCCACTTTATCTGATGAGAAG 0.428000 23 23 0 0 0.004656 0 0 HGD 3081 broad.mit.edu 37 3 120369647 120369647 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:120369647G>A uc003edw.3 - 5 868 c.408C>T c.(406-408)ttC>ttT p.F136F HGD_uc003edv.3_5'UTR NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 136 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TATTGCAGAGGAAAATGTGGA 0.483000 92 36 0 0 0.006230 0 0 MXRA5 25878 broad.mit.edu 37 X 3235770 3235770 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:3235770C>T uc004crg.4 - 5 6109 c.5952G>A c.(5950-5952)tgG>tgA p.W1984* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1984 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGGGAAGATCCAGGAAATTT 0.582000 5 26 0 0 0.006320 0 0 WDR1 9948 broad.mit.edu 37 4 10105519 10105519 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:10105519C>T uc021xlv.1 - 3 512 c.229_splice c.e3+1 p.D77_splice WDR1_uc021xlw.1_Intron NM_017491 NP_059830 O75083 WDR1_HUMAN Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA. 77 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCATACAGTACCTCCGGAGGC 0.642000 6 4 0 0 0.000602 0 0 PRAME 23532 broad.mit.edu 37 22 22892525 22892525 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:22892525G>A uc002zwf.3 - 3 732 c.576C>T c.(574-576)ttC>ttT p.F192F abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.F176F|PRAME_uc010gtr.3_Silent_p.F192F|PRAME_uc002zwg.3_Silent_p.F192F|PRAME_uc002zwh.3_Silent_p.F192F|PRAME_uc002zwi.3_Silent_p.F192F|PRAME_uc002zwj.3_Silent_p.F192F|PRAME_uc002zwk.3_Silent_p.F192F NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 192 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) TGAGGTAGGAGAACAATTCAT 0.453000 58 37 0 0 0.008740 0 0 LY9 4063 broad.mit.edu 37 1 160783515 160783515 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:160783515G>A uc001fwu.3 + 2 594 c.544G>A c.(544-546)Ggg>Agg p.G182R LY9_uc010pjs.1_Missense_Mutation_p.G182R|LY9_uc001fwv.3_Missense_Mutation_p.G182R|LY9_uc001fww.3_Missense_Mutation_p.G182R|LY9_uc001fwy.1_Missense_Mutation_p.G84R|LY9_uc001fwz.3_5'Flank NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 182 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTCCGTGAAGGGGGCAGAGAA 0.532000 87 31 0 0 0.002445 0 0 SYT4 6860 broad.mit.edu 37 18 40853626 40853626 + Silent SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:40853626T>C uc002law.3 - 1 1137 c.768A>G c.(766-768)gaA>gaG p.E256E SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.E238E NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 256 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GAATTAGAACTTCCCCAATGA 0.353000 25 17 0 0 0.004990 0 0 PALLD 23022 broad.mit.edu 37 4 169630191 169630191 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:169630191C>T uc011cjx.2 + 8 1725 c.1514C>T c.(1513-1515)aCc>aTc p.T505I PALLD_uc003iru.3_Missense_Mutation_p.T505I|PALLD_uc003irv.3_Missense_Mutation_p.T123I NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 505 Ig-like C2-type 2. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAGATTTGCACCCTAGTTATC 0.443000 Pancreatic Cancer, Familial Clustering of 91 13 0 0 0.001855 0 0 PALLD 23022 broad.mit.edu 37 4 169589400 169589400 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:169589400G>A uc011cjx.2 + 2 1179 c.968G>A c.(967-969)gGa>gAa p.G323E PALLD_uc003iru.3_Missense_Mutation_p.G323E|PALLD_uc003irv.3_5'UTR NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 323 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CACTGTGAGGGAGGGGACCTC 0.507000 Pancreatic Cancer, Familial Clustering of 39 36 0 0 0.004878 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43662469 43662469 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:43662469C>T uc001jan.3 + 5 1512 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA. 393 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGTGTTTTACCCTGTGGTGTT 0.363000 18 8 0 0 0.004482 0 0 KLF4 9314 broad.mit.edu 37 9 110249674 110249674 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:110249674A>G uc004bdh.3 - 2 1595 c.974T>C c.(973-975)cTg>cCg p.L325P KLF4_uc004bdf.2_Missense_Mutation_p.L284P|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.L334P NM_004235 NP_004226 O43474 KLF4_HUMAN Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA. 334 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 AGGAAGCGGCAGGGCAGGGTG 0.662000 0 5 0 0 0.000602 0 0 ALG5 29880 broad.mit.edu 37 13 37567800 37567800 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:37567800G>A uc001uvy.3 - 3 362 c.295C>T c.(295-297)Cct>Tct p.P99S ALG5_uc010teq.2_Intron|ALG5_uc010ter.2_Non-coding_Transcript NM_013338 NP_037470 Q9Y673 ALG5_HUMAN Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA. 99 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) GTGAACGCAGGATCTCGTTTC 0.313000 55 46 0 0 0.003610 0 0 HRNR 388697 broad.mit.edu 37 1 152188193 152188193 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152188193G>A uc001ezt.1 - 2 5988 c.5912C>T c.(5911-5913)tCa>tTa p.S1971L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1971 keratinization calcium ion binding|protein binding p.S1971*(2) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCACCCTGAGCCAGACCC 0.607000 727 26 0 0 0.003755 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421200 37421200 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:37421200G>A uc021ppc.1 + 3 474 c.375G>A c.(373-375)acG>acA p.T125T ANKRD30A_uc001iza.1_Silent_p.T125T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 181 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.T125T(2) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TATCCATAACGAAAAGAAGTG 0.284000 12 36 0 0 0.002852 0 0 DNAH5 1767 broad.mit.edu 37 5 13824376 13824376 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:13824376C>T uc003jfd.2 - 38 6553 c.6511G>A c.(6511-6513)Gcc>Acc p.A2171T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2171 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) ATTGGATTGGCTCTTTTTGCT 0.443000 Kartagener syndrome 22 18 0 0 0.007413 0 0 BAI3 577 broad.mit.edu 37 6 70042883 70042883 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:70042883G>A uc010kak.3 + 22 3447 c.3171G>A c.(3169-3171)aaG>aaA p.K1057K BAI3_uc003pev.4_Silent_p.K1057K|BAI3_uc011dxx.2_Silent_p.K263K NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1057 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TAGATAAAAAGCTCAAACACA 0.383000 18 13 0 0 0.001368 0 0 TRIT1 54802 broad.mit.edu 37 1 40315913 40315913 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:40315913T>C uc021olz.1 - 4 595 c.581A>G c.(580-582)gAa>gGa p.E194G TRIT1_uc001ced.4_5'UTR|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_5'UTR|TRIT1_uc001ceh.4_5'UTR|TRIT1_uc009vvv.3_Missense_Mutation_p.E53G|TRIT1_uc001cei.4_5'UTR|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_5'UTR|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.E114G|TRIT1_uc001cen.3_5'UTR|TRIT1_uc001ceo.3_5'UTR|TRIT1_uc001cep.3_Intron NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA. 194 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GATTCCTGTTTCTTCAAAAAC 0.423000 35 12 0 0 0.004007 0 0 LILRB2 10288 broad.mit.edu 37 19 54782844 54782844 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:54782844C>T uc002qfb.3 - 5 1044 c.778G>A c.(778-780)Ggg>Agg p.G260R LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.G260R|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G260R|LILRB2_uc010yet.2_Missense_Mutation_p.G144R|LILRB2_uc010yeu.1_Non-coding_Transcript NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 260 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.G260E(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACGTTCCCCCTCCTTGTAC 0.647000 47 14 0 0 0.002450 0 0 MERTK 10461 broad.mit.edu 37 2 112702606 112702606 + Silent SNP C T T rs148690514 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:112702606C>T uc002thk.1 + 2 674 c.552C>T c.(550-552)atC>atT p.I184I MERTK_uc002thl.1_Silent_p.I8I NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 184 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ATGAAGAGATCGTGTCTGATC 0.398000 20 8 0 0 0.004482 0 0 ZNF160 90338 broad.mit.edu 37 19 53572807 53572807 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53572807T>A uc010eqk.3 - 6 1396 c.980A>T c.(979-981)tAc>tTc p.Y327F ZNF160_uc002qaq.4_Missense_Mutation_p.Y327F|ZNF160_uc002qar.4_Missense_Mutation_p.Y327F NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 327 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGTTGCAAGGTATGAATTGTG 0.403000 59 18 0 0 0.004990 0 0 HYDIN 54768 broad.mit.edu 37 16 71025993 71025993 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:71025993C>T uc002ezr.3 - 23 3916 c.3765G>A c.(3763-3765)atG>atA p.M1255I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1255 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CATTTAAATCCATCTCGGGGG 0.453000 31 4 0 0 0.001168 0 0 FAM83B 222584 broad.mit.edu 37 6 54806429 54806429 + Missense_Mutation SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:54806429C>A uc003pck.3 + 4 2776 c.2660C>A c.(2659-2661)cCa>cAa p.P887Q NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 887 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GCCTCTGCCCCAAGATTTAAC 0.448000 33 35 3.33393e-15 3.71917e-15 0.004878 1 0 PAPLN 89932 broad.mit.edu 37 14 73731380 73731380 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:73731380G>A uc010ttx.2 + 20 3234 c.3071G>A c.(3070-3072)gGg>gAg p.G1024E PAPLN_uc001xnw.4_Missense_Mutation_p.G997E|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.G1008E|PAPLN_uc010arm.3_Missense_Mutation_p.G223E|PAPLN_uc010arn.3_Missense_Mutation_p.G224E NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 1024 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding p.R1024Q(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GGCCAAGCGGGGGCTGCTGGG 0.657000 90 40 0 0 0.008740 0 0 VSTM4 196740 broad.mit.edu 37 10 50255027 50255028 + Splice_Site DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:50255027_50255028CC>TT uc001jhf.2 - 7 866 c.837_splice c.e7+1 p.L279_splice NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 279 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CGGTTACTTACCAGCGTGACTT 0.441000 35 93 0 0 0.004672 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140723999 140723999 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140723999C>T uc003ljm.2 + 0 399 c.399C>T c.(397-399)ttC>ttT p.F133F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.F133F NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 133 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTAATTTCCCAACAGAGG 0.338000 30 7 0 0 0.003080 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42143230 42143230 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:42143230G>A uc002xkl.3 + 0 155 c.46G>A c.(46-48)Gga>Aga p.G16R L3MBTL1_uc010zwh.2_Intron|L3MBTL1_uc010ggk.2_Missense_Mutation_p.G16R|L3MBTL1_uc002xkm.3_Missense_Mutation_p.G16R|L3MBTL1_uc010ggl.3_Missense_Mutation_p.G16R NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA. 16 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GATGGGTCAAGGACCCGTACG 0.647000 4 7 0 0 0.004482 0 0 RGPD3 653489 broad.mit.edu 37 2 107041611 107041611 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:107041611C>T uc010ywi.1 - 19 2869 c.2812G>A c.(2812-2814)Gaa>Aaa p.E938K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 938 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AGAGGCTTTTCACTTTTCTTT 0.408000 178 62 0 0 0.003610 0 0 SMARCC2 6601 broad.mit.edu 37 12 56561897 56561897 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:56561897T>C uc001skb.3 - 24 2810 c.2704A>G c.(2704-2706)Aaa>Gaa p.K902E SMARCC2_uc001skd.3_Missense_Mutation_p.K933E|SMARCC2_uc001ska.3_Missense_Mutation_p.K933E|SMARCC2_uc001skc.3_Missense_Mutation_p.K932E|SMARCC2_uc010sqf.2_Missense_Mutation_p.K822E NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 902 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity p.I901M(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGCCGAAGTTTGATCTCCAAC 0.547000 51 45 0 0 0.003214 0 0 NEB 4703 broad.mit.edu 37 2 152529052 152529052 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:152529052G>A uc021vrb.1 - 34 4159 c.4130C>T c.(4129-4131)aCc>aTc p.T1377I NEB_uc002txu.3_Missense_Mutation_p.T1377I|NEB_uc021vrc.1_Missense_Mutation_p.T1377I|NEB_uc010fnx.3_Missense_Mutation_p.T1377I|NEB_uc021vrd.1_Missense_Mutation_p.T1377I NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1377 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCTGGTTTTGGTGTTCTCATA 0.483000 65 29 0 0 0.006320 0 0 TNR 7143 broad.mit.edu 37 1 175375715 175375715 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:175375715C>T uc001gkp.1 - 0 217 c.136G>A c.(136-138)Gag>Aag p.E46K TNR_uc009wwu.1_Missense_Mutation_p.E46K|TNR_uc010pmz.1_Missense_Mutation_p.E46K NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 46 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCCTCCTCCTCCACTGACTGT 0.527000 61 98 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 71015453 71015453 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:71015453G>A uc002ezr.3 - 28 4499 c.4348C>T c.(4348-4350)Caa>Taa p.Q1450* NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1451 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACCTGCTCTTGATGTGAACTG 0.408000 43 50 0 0 0.003610 0 0 OXA1L 5018 broad.mit.edu 37 14 23235902 23235902 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:23235902C>T uc001wgn.2 + 0 172 c.172C>T c.(172-174)Ccg>Tcg p.P58S OXA1L_uc010tnc.2_Missense_Mutation_p.P58S|OXA1L_uc001wgp.2_5'Flank NM_005015 NP_005006 Q15070 OXA1L_HUMAN Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA. 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding p.P58S(2)|p.P58P(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AAGTCCTCTTCCGGGCAAAAT 0.607000 96 35 0 0 0.004878 0 0 PTPRT 11122 broad.mit.edu 37 20 40714436 40714436 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:40714436C>T uc002xkg.3 - 27 4088 c.3904G>A c.(3904-3906)Gag>Aag p.E1302K PTPRT_uc010ggj.3_Missense_Mutation_p.E1321K|PTPRT_uc010ggi.3_Missense_Mutation_p.E505K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1302 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGACGAACTCCACCTGGATG 0.552000 57 47 0 0 0.003610 0 0 PADI3 51702 broad.mit.edu 37 1 17599850 17599850 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:17599850G>A uc001bai.3 + 9 1103 c.1063G>A c.(1063-1065)Ggc>Agc p.G355S NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 355 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) GATGGAGCTGGGCTACGTTCA 0.597000 37 23 0 0 0.008361 0 0 FBXW10 10517 broad.mit.edu 37 17 18647600 18647600 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:18647600C>T uc002gul.3 + 0 275 c.43C>T c.(43-45)Cgt>Tgt p.R15C FBXW10_uc002guj.3_Missense_Mutation_p.R15C|FBXW10_uc002guk.3_Missense_Mutation_p.R15C|FBXW10_uc010cqh.2_Missense_Mutation_p.R15C NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 15 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CCCCTATTTTCGTTGTGAGAA 0.493000 98 61 0 0 0.003610 0 0 BCL9L 283149 broad.mit.edu 37 11 118773008 118773008 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:118773008G>A uc001pug.3 - 5 2409 c.1444C>T c.(1444-1446)Ccc>Tcc p.P482S BCL9L_uc009zal.3_Missense_Mutation_p.P477S NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 482 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCCAGCGGGGGGCCCCCTAGG 0.647000 66 48 0 0 0.003610 0 0 LSM10 84967 broad.mit.edu 37 1 36859377 36859377 + Silent SNP G C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:36859377G>C uc001cao.1 - 1 504 c.354C>G c.(352-354)ccC>ccG p.P118P LSM10_uc021olj.1_Silent_p.P118P NM_032881 NP_116270 Q969L4 LSM10_HUMAN Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA. 118 RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) AGTTTTTTGGGGGAAATTCCC 0.572000 74 30 0 0 0.002096 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509388 171509388 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:171509388C>T uc010pmg.2 + 15 3043 c.2777C>T c.(2776-2778)tCc>tTc p.S926F PRRC2C_uc010pmh.2_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 926 protein C-terminus binding AGAAGTGTTTCCCATGGATCT 0.453000 44 5 0 0 0.001168 0 0 THSD7A 221981 broad.mit.edu 37 7 11418702 11418702 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:11418702C>T uc021zzo.1 - 25 5048 c.4796G>A c.(4795-4797)gGg>gAg p.G1599E THSD7A_uc021zzn.1_Missense_Mutation_p.G1597E|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Missense_Mutation_p.G103E NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 1599 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCACCTGGCCCAAATGGCTG 0.453000 HNSCC(18;0.044) 31 27 0 0 0.004656 0 0 EPPK1 83481 broad.mit.edu 37 8 144940559 144940559 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:144940559G>A uc003zaa.1 - 0 6876 c.6863C>T c.(6862-6864)gCc>gTc p.A2288V NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2288 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) CACGCCCGCGGCCACGGCCTC 0.736000 72 9 0 0 0.004482 0 0 HTR5A 3361 broad.mit.edu 37 7 154875939 154875939 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:154875939G>A uc003wlu.1 + 1 880 c.816G>A c.(814-816)ggG>ggA p.G272G NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 272 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) AGCCAGAAGGGGACACGTGGC 0.602000 16 40 0 0 0.006230 0 0 MUC16 94025 broad.mit.edu 37 19 9061785 9061785 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9061785G>A uc002mkp.3 - 2 25865 c.25661C>T c.(25660-25662)tCt>tTt p.S8554F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8556 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTTCCACAGAGGGAAGGCT 0.507000 19 10 0 0 0.006214 0 0 THSD7B 80731 broad.mit.edu 37 2 137928475 137928475 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:137928475C>T uc002tva.1 + 5 1597 c.1597C>T c.(1597-1599)Cgt>Tgt p.R533C THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.R423C NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGGGACATCGTATTCTGAA 0.502000 18 8 0 0 0.004482 0 0 PAPL 390928 broad.mit.edu 37 19 39589776 39589776 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:39589776C>T uc002oki.3 + 3 773 c.499C>T c.(499-501)Cat>Tat p.H167Y PAPL_uc010egl.3_Missense_Mutation_p.H167Y NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA. 167 extracellular region acid phosphatase activity|metal ion binding CGCCGTTCTCCATGTGGGTGA 0.751000 44 16 0 0 0.007413 0 0 PRDM16 63976 broad.mit.edu 37 1 3347512 3347512 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:3347512G>A uc001akf.3 + 14 3443 c.3361G>A c.(3361-3363)Gag>Aag p.E1121K PRDM16_uc001ake.3_Missense_Mutation_p.E1121K|PRDM16_uc009vlh.3_Missense_Mutation_p.E821K|PRDM16_uc001akc.3_Missense_Mutation_p.E1120K NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1121 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) cgtggaggaggaggacgacga 0.642000 T EVI1 """MDS, AML""" 15 10 0 0 0.006214 0 0 X06774 0 broad.mit.edu 37 7 38370226 38370226 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:38370226C>T uc010kxj.1 - 1 208 c.72G>A c.(70-72)ggG>ggA p.G24G X06774_uc010kxk.1_Non-coding_Transcript Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA. ACTTTGTTCTCCCTTCCAAGT 0.438000 43 33 0 0 0.004878 0 0 ITIH4 3700 broad.mit.edu 37 3 52852126 52852126 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:52852126G>A uc011bem.2 - 19 2281 c.2253C>T c.(2251-2253)ctC>ctT p.L751L ITIH4_uc011bel.2_Silent_p.L460L|ITIH4_uc003dfy.3_Intron|ITIH4_uc003dfz.3_Silent_p.L746L|ITIH4_uc011ben.2_Silent_p.L716L NM_002218 NP_002209 Q14624 ITIH4_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA. 746 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GGTCCACACAGAGCCGCTCCA 0.667000 34 33 0 0 0.004289 0 0 EPHB2 2048 broad.mit.edu 37 1 23239072 23239072 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:23239072C>T uc009vqj.1 + 14 2977 c.2832C>T c.(2830-2832)gtC>gtT p.V944V EPHB2_uc001bge.3_Silent_p.V945V|EPHB2_uc001bgf.3_Silent_p.V944V|EPHB2_uc010odu.2_Silent_p.V886V NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 944 SAM. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.V944V(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCTTTGACGTCGTGTCTCAGA 0.577000 41 26 0 0 0.006320 0 0 ZNF211 10520 broad.mit.edu 37 19 58146045 58146045 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:58146045T>C uc002qpr.2 + 3 478 c.175T>C c.(175-177)Tgg>Cgg p.W59R ZNF211_uc010yhb.1_Missense_Mutation_p.W51R|ZNF211_uc002qpp.2_Missense_Mutation_p.W60R|ZNF211_uc002qpq.2_Missense_Mutation_p.W47R|ZNF211_uc002qpt.2_Missense_Mutation_p.W59R|ZNF211_uc010yhc.1_Missense_Mutation_p.W59R|ZNF211_uc010yhe.1_5'UTR|ZNF211_uc010yhd.1_5'UTR NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 47 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTGGGAGGAATGGGATCTCCT 0.483000 41 41 0 0 0.008740 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008944 88008944 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:88008944T>C uc022bzq.1 + 0 529 c.529T>C c.(529-531)Tat>Cat p.Y177H CPXCR1_uc004efd.4_Missense_Mutation_p.Y177H|CPXCR1_uc004efc.4_Missense_Mutation_p.Y177H NM_033048 NP_149037 Q8N123 CPXCR_HUMAN Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA. 177 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 AAAGCGAAAATATATAGCATG 0.428000 13 17 0 0 0.006122 0 0 RPE65 6121 broad.mit.edu 37 1 68910336 68910336 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:68910336C>T uc001dei.1 - 4 427 c.373G>A c.(373-375)Gga>Aga p.G125R NM_000329 NP_000320 Q16518 RPE65_HUMAN Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA. 125 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.R124*(1)|p.R124L(1) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ACCTCTACTCCTCGAAAGTAA 0.363000 26 25 0 0 0.003330 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921795 78921795 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:78921795G>A uc002bed.1 - 4 964 c.852C>T c.(850-852)atC>atT p.I284I CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.I102I NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 284 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TGGGTGGCACGATCTTGGAGA 0.562000 36 33 0 0 0.002836 0 0 PM20D1 148811 broad.mit.edu 37 1 205813990 205813990 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:205813990C>T uc001hdj.3 - 3 601 c.525G>A c.(523-525)agG>agA p.R175R PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 175 extracellular region metal ion binding|peptidase activity p.R175S(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGATGTACTTCCTGATCAGCA 0.493000 36 49 0 0 0.003610 0 0 DYRK2 8445 broad.mit.edu 37 12 68051037 68051037 + Missense_Mutation SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:68051037C>G uc001str.4 + 2 752 c.350C>G c.(349-351)aCg>aGg p.T117R DYRK2_uc001sts.4_Missense_Mutation_p.T44R|DYRK2_uc021raa.1_Missense_Mutation_p.T44R NM_006482 NP_003574 Q92630 DYRK2_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA. 117 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T117T(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GTGGGCAAAACGGGCTTGCCA 0.537000 35 14 0 0 0.002450 0 0 ODC1 4953 broad.mit.edu 37 2 10580980 10580980 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:10580980T>C uc010exg.1 - 11 1690 c.1256A>G c.(1255-1257)cAa>cGa p.Q419R ODC1_uc002rao.1_Missense_Mutation_p.Q419R|ODC1_uc010yjd.1_Missense_Mutation_p.Q289R NM_002539 NP_002530 P11926 DCOR_HUMAN Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA. 419 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) GTTCTGGAATTGCTGCATGAG 0.498000 54 29 0 0 0.001786 0 0 ITGA4 3676 broad.mit.edu 37 2 182388248 182388248 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:182388248C>T uc002unu.3 + 18 2921 c.2158C>T c.(2158-2160)Cat>Tat p.H720Y ITGA4_uc010frj.1_Missense_Mutation_p.H202Y|ITGA4_uc002unv.3_5'UTR NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 720 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.H720R(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATATGTAGATCATCTCTCAAG 0.328000 23 7 0 0 0.001984 0 0 KCNB1 3745 broad.mit.edu 37 20 47990024 47990024 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:47990024G>A uc002xur.1 - 1 2239 c.2073C>T c.(2071-2073)taC>taT p.Y691Y KCNB1_uc002xus.1_Silent_p.Y691Y NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 691 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGGGTCATGGTACATCCCTA 0.562000 36 22 0 0 0.002780 0 0 RECK 8434 broad.mit.edu 37 9 36102143 36102143 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:36102143G>A uc003zyv.3 + 11 1437 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K RECK_uc003zyw.3_Missense_Mutation_p.E323K|RECK_uc003zyx.3_Non-coding_Transcript NM_021111 NP_066934 O95980 RECK_HUMAN Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA. 451 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAATTCCCTGAAGACCACAC 0.373000 25 7 0 0 0.001984 0 0 MAGI3 260425 broad.mit.edu 37 1 114165440 114165440 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:114165440C>T uc001edk.3 + 8 1365 c.1184C>T c.(1183-1185)tCa>tTa p.S395L MAGI3_uc001edh.3_Missense_Mutation_p.S420L|MAGI3_uc001edi.4_Missense_Mutation_p.S395L|MAGI3_uc010owm.2_Missense_Mutation_p.S420L|MAGI3_uc001edj.3_Missense_Mutation_p.S116L NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 420 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGGAAAAATCACACTTCACA 0.343000 34 13 0 0 0.004990 0 0 POTEG 404785 broad.mit.edu 37 14 19566060 19566060 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:19566060C>T uc001vuz.1 + 5 1156 c.1104C>T c.(1102-1104)gtC>gtT p.V368V POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 368 p.V368F(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TGCTAAAAGTCTCTTCTGAAA 0.323000 93 18 0 0 0.001882 0 0 KIAA1217 56243 broad.mit.edu 37 10 24816916 24816916 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:24816916G>A uc001iru.4 + 13 3353 c.2950G>A c.(2950-2952)Ggg>Agg p.G984R KIAA1217_uc001irs.3_Missense_Mutation_p.G904R|KIAA1217_uc001irt.4_Missense_Mutation_p.G949R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G949R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G949R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G667R|KIAA1217_uc001irz.3_Missense_Mutation_p.G667R|KIAA1217_uc001irx.3_Missense_Mutation_p.G667R|KIAA1217_uc001iry.3_Missense_Mutation_p.G667R NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 984 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCACTATAATGGGAAAGAGTT 0.458000 16 60 0 0 0.003610 0 0 GRHL2 79977 broad.mit.edu 37 8 102585948 102585948 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:102585948G>A uc010mbu.3 + 5 1117 c.787G>A c.(787-789)Ggg>Agg p.G263R GRHL2_uc011lhi.1_Missense_Mutation_p.G263R NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 263 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCAGAAGCAGGGGGAGGGCCC 0.507000 40 15 0 0 0.003163 0 0 ODZ2 57451 broad.mit.edu 37 5 167551955 167551955 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:167551955G>A uc010jjd.3 + 10 2109 c.2109G>A c.(2107-2109)agG>agA p.R703R ODZ2_uc003lzr.4_Silent_p.R471R|ODZ2_uc003lzt.4_Silent_p.R67R|ODZ2_uc010jje.3_5'UTR NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AGCTGGCGAGGGTCCAGTGCC 0.617000 13 7 0 0 0.001984 0 0 ADAM18 8749 broad.mit.edu 37 8 39495126 39495126 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:39495126C>T uc003xni.3 + 8 786 c.731C>T c.(730-732)tCc>tTc p.S244F ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S220F NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 244 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AACCAGATTTCCACCAGTGGG 0.363000 27 8 0 0 0.006214 0 0 CSMD1 64478 broad.mit.edu 37 8 3265606 3265606 + Missense_Mutation SNP A C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:3265606A>C uc022aqr.1 - 13 2276 c.1886T>G c.(1885-1887)tTt>tGt p.F629C CSMD1_uc011kwj.2_Missense_Mutation_p.F22C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 630 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCAACATCAAAATCATTAAA 0.433000 26 10 0 0 0.000978 0 0 ZNF440 126070 broad.mit.edu 37 19 11942602 11942602 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:11942602T>A uc002msp.1 + 3 767 c.611T>A c.(610-612)tTt>tAt p.F204Y ZNF440_uc021upk.1_5'Flank NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN Homo sapiens zinc finger protein 440 (ZNF440), mRNA. 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AAATGTAAGTTTTGTGGGAAA 0.373000 63 33 0 0 0.003755 0 0 MGAT4A 11320 broad.mit.edu 37 2 99272887 99272887 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:99272887G>A uc002sze.3 - 6 940 c.626C>T c.(625-627)tCa>tTa p.S209L MGAT4A_uc010yvm.2_Missense_Mutation_p.S81L|MGAT4A_uc010fil.3_5'UTR|MGAT4A_uc010fim.1_Missense_Mutation_p.S81L NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA. 209 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|extracellular region|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 TTCAGGGGGTGATATGACTTC 0.373000 61 57 0 0 0.003610 0 0 OR2W3 343171 broad.mit.edu 37 1 248059058 248059058 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248059058C>T uc010pzb.2 + 0 170 c.170C>T c.(169-171)aCc>aTc p.T57I OR2W3_uc001idp.1_Missense_Mutation_p.T57I NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACCTCCACACCCCCATGTAC 0.572000 153 83 0 0 0.003610 0 0 PSG3 5671 broad.mit.edu 37 19 43373139 43373139 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:43373139C>T uc002ovd.1 - 3 895 c.757G>A c.(757-759)Gag>Aag p.E253K PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E253K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.E160K|PSG3_uc002ova.2_Missense_Mutation_p.E160K|PSG3_uc002ouz.2_Missense_Mutation_p.E253K|PSG3_uc002ovb.3_Missense_Mutation_p.E253K NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 253 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TCCTTATTCTCCCTGGGGTTT 0.488000 93 93 0 0 0.003610 0 0 FAT1 2195 broad.mit.edu 37 4 187549725 187549725 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:187549725G>A uc003izf.3 - 7 4704 c.4516C>T c.(4516-4518)Cgt>Tgt p.R1506C NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 1506 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGATCAAGACGAAATTTCTTG 0.463000 HNSCC(5;0.00058) 20 16 0 0 0.003163 0 0 C5 727 broad.mit.edu 37 9 123780002 123780002 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:123780002G>A uc004bkv.3 - 12 1665 c.1635C>T c.(1633-1635)atC>atT p.I545I C5_uc010mvm.1_Silent_p.I545I|C5_uc010mvn.1_Silent_p.I545I NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 545 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CTCCTGTGACGATGTAATAGA 0.398000 12 22 0 0 0.002780 0 0 PDE2A 5138 broad.mit.edu 37 11 72294558 72294558 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:72294558G>A uc010rrc.2 - 20 1897 c.1651_splice c.e20-1 p.S551_splice PDE2A_uc001oso.3_Splice_Site_p.S530_splice|PDE2A_uc010rra.2_Splice_Site_p.S544_splice|PDE2A_uc001osn.3_Splice_Site_p.S295_splice|PDE2A_uc010rrb.2_Splice_Site_p.S542_splice|PDE2A_uc010rrd.2_Splice_Site_p.S436_splice NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 551 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GTATAGGAGAGACTAGGGGAA 0.498000 217 151 0 0 0.003610 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999878 46999878 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:46999878A>G uc001jec.3 + 2 1133 c.998A>G c.(997-999)cAg>cGg p.Q333R GPRIN2_uc021ppt.1_Missense_Mutation_p.Q333R NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 333 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CTGTCAGCCCAGGATGCTGGT 0.642000 27 21 0 0 0.001882 0 0 INHBE 83729 broad.mit.edu 37 12 57850536 57850536 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57850536C>T uc001snw.3 + 1 1182 c.958C>T c.(958-960)Cga>Tga p.R320* NM_031479 NP_113667 P58166 INHBE_HUMAN Homo sapiens inhibin, beta E (INHBE), mRNA. 320 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCCTACTGCCCGAAGGCCCCT 0.562000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 29 0 0 0.002096 0 0 OR2M2 391194 broad.mit.edu 37 1 248343915 248343915 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248343915C>T uc010pzf.2 + 0 628 c.628C>T c.(628-630)Cct>Tct p.P210S NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTTGTTTTCCCTGTTGCAAT 0.423000 143 84 0 0 0.003610 0 0 SPAM1 6677 broad.mit.edu 37 7 123599727 123599727 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:123599727G>A uc003vle.3 + 4 1673 c.1234G>A c.(1234-1236)Ggt>Agt p.G412S SPAM1_uc011koa.1_Missense_Mutation_p.G68S|SPAM1_uc003vld.3_Missense_Mutation_p.G412S|SPAM1_uc022aks.1_Missense_Mutation_p.G412S|SPAM1_uc003vlf.4_Missense_Mutation_p.G412S|SPAM1_uc010lku.3_Missense_Mutation_p.G412S NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 412 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ACTTGAGAAAGGTGGAAAGTT 0.398000 58 11 0 0 0.000978 0 0 NLRP3 114548 broad.mit.edu 37 1 247587626 247587626 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:247587626C>T uc001icr.3 + 4 1019 c.881C>T c.(880-882)cCc>cTc p.P294L NLRP3_uc001ics.3_Missense_Mutation_p.P294L|NLRP3_uc001icu.3_Missense_Mutation_p.P294L|NLRP3_uc001icw.3_Missense_Mutation_p.P294L|NLRP3_uc001icv.3_Missense_Mutation_p.P294L|NLRP3_uc010pyw.2_Missense_Mutation_p.P292L|NLRP3_uc001ict.1_Missense_Mutation_p.P292L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 294 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GTGAGAAAACCCTCCAGAATC 0.587000 75 45 0 0 0.002522 0 0 FAM179B 23116 broad.mit.edu 37 14 45497485 45497485 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:45497485C>T uc001wvw.3 + 9 3820 c.3611C>T c.(3610-3612)tCc>tTc p.S1204F FAM179B_uc001wvv.3_Missense_Mutation_p.S1204F|FAM179B_uc010anc.3_Non-coding_Transcript NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 1204 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GAAAAAAATTCCTGGGAACGA 0.299000 66 27 0 0 0.008361 0 0 CRYBB2 1415 broad.mit.edu 37 22 25623851 25623851 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:25623851G>A uc003abp.1 + 3 253 c.205G>A c.(205-207)Ggc>Agc p.G69S NM_000496 NP_000487 P43320 CRBB2_HUMAN Homo sapiens crystallin, beta B2 (CRYBB2), mRNA. 69 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CAACTGCAAGGGCGAGCAGTT 0.587000 93 53 0 0 0.003610 0 0 CFLAR 8837 broad.mit.edu 37 2 202028672 202028672 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:202028672G>A uc002uxb.4 + 9 1884 c.1419G>A c.(1417-1419)aaG>aaA p.K473K CFLAR_uc010zhk.2_3'UTR|CFLAR_uc010zhl.2_Silent_p.K377K|CFLAR_uc002uxc.4_Silent_p.K438K|CFLAR_uc002uxd.4_Silent_p.K473K|CFLAR_uc010fsx.3_3'UTR|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_3'UTR|CFLAR_uc010zhm.2_3'UTR|CFLAR_uc010fsz.3_3'UTR|CFLAR_uc002uxg.3_Silent_p.K228K NM_003879 NP_001189446 O15519 CFLAR_HUMAN Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA. 473 Interaction with TRAF1 and TRAF2.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 CTCTGAGAAAGAAACTTATCC 0.463000 21 7 0 0 0.003080 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887274 12887274 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:12887274G>A uc001auk.2 - 2 779 c.583C>T c.(583-585)Cag>Tag p.Q195* NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 195 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ACGAGCTTCTGAAGATTCCTC 0.512000 246 173 0 0 0.003610 0 0 MDN1 23195 broad.mit.edu 37 6 90405637 90405637 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:90405637G>A uc003pnn.1 - 60 9574 c.9458C>T c.(9457-9459)tCc>tTc p.S3153F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 3153 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGCCGCCGGGACTCTGGGAG 0.617000 79 52 0 0 0.003610 0 0 ADAM29 11086 broad.mit.edu 37 4 175898960 175898960 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:175898960C>T uc003iuc.3 + 4 2954 c.2284C>T c.(2284-2286)Cct>Tct p.P762S ADAM29_uc003iud.3_Missense_Mutation_p.P762S|ADAM29_uc010irr.3_Missense_Mutation_p.P762S|ADAM29_uc011cki.2_Missense_Mutation_p.P762S|ADAM29_uc021xuo.1_Missense_Mutation_p.P762S NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 762 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GAGTCAACCTCCTGTGACACC 0.572000 86 28 0 0 0.001786 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767736 121767736 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:121767736G>A uc003ksw.1 + 5 1461 c.1255G>A c.(1255-1257)Gat>Aat p.D419N SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.D419N|SNCAIP_uc003ksy.1_Missense_Mutation_p.D53N|SNCAIP_uc003ksx.1_Missense_Mutation_p.D466N|SNCAIP_uc003ksz.1_Missense_Mutation_p.D53N|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Missense_Mutation_p.D53N|SNCAIP_uc003kta.1_Missense_Mutation_p.D51N|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.D113N|SNCAIP_uc010jcx.1_Missense_Mutation_p.D359N NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 419 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TTGTTCTAAGGATTTTCCAAG 0.408000 24 24 0 0 0.006320 0 0 PARD3 56288 broad.mit.edu 37 10 34573111 34573111 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:34573111G>A uc010qej.2 - 20 3467 c.3137C>T c.(3136-3138)tCc>tTc p.S1046F PARD3_uc010qep.2_Missense_Mutation_p.S956F|PARD3_uc010qeq.2_Intron|PARD3_uc010qek.2_Missense_Mutation_p.S1043F|PARD3_uc010qel.2_Intron|PARD3_uc010qem.2_Missense_Mutation_p.S1030F|PARD3_uc010qen.2_Missense_Mutation_p.S1000F|PARD3_uc010qeo.2_Intron NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 1046 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 p.S1046F(2) 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) TGATGTAAAGGATTCCTGTAT 0.338000 16 39 0 0 0.006999 0 0 DIS3L2 129563 broad.mit.edu 37 2 233201319 233201320 + Nonsense_Mutation DNP CG TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:233201319_233201320CG>TT uc010fxz.3 + 20 2913_2914 c.2637_2638CG>TT c.(2635-2640)cccgag>ccTTag p.E880* DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA. 880 RNA binding|exonuclease activity|ribonuclease activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) ACGGTGAGCCCGAGGACTCAAG 0.678000 9 10 0 0 0.004672 0 0 ERCC4 2072 broad.mit.edu 37 16 14014015 14014015 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:14014015G>A uc002dce.2 + 1 1 c.-8_splice c.e1-1 ERCC4_uc010bva.3_Splice_Site NM_005236 NP_005227 Q92889 XPF_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 CGACCCGGAAGAGCTTCCATG 0.647000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum OREG0023622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 37 0 0 0.007835 0 0 PRR4 11272 broad.mit.edu 37 12 10999753 10999753 + Missense_Mutation SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:10999753G>T uc001qyz.4 - 2 353 c.314C>A c.(313-315)cCc>cAc p.P105H PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron NM_007244 NP_009175 Q16378 PROL4_HUMAN Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA. 105 visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 AGGAAATCGGGGTAGAGAGAG 0.537000 120 92 2.41567e-30 2.71237e-30 0.003610 1 0 FAT3 120114 broad.mit.edu 37 11 92538510 92538510 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:92538510G>A uc001pdj.4 + 9 9105 c.9088G>A c.(9088-9090)Gat>Aat p.D3030N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3030 Cadherin 28. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCAGTGTGTGATCAGGTGAG 0.423000 TCGA Ovarian(4;0.039) 40 152 0 0 0.003610 0 0 OR4C11 219429 broad.mit.edu 37 11 55371784 55371784 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55371784C>T uc010rii.2 - 0 91 c.66G>A c.(64-66)caG>caA p.Q22Q NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q22K(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 ACACTATTTTCTGCCTCAAGG 0.398000 2 30 0 0 0.002096 0 0 OR5R1 219479 broad.mit.edu 37 11 56184981 56184981 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56184981G>A uc010rji.2 - 0 728 c.728C>T c.(727-729)tCc>tTc p.S243F OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S243F(2)|p.S243P(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CACCATATGGGAGCCACAGGT 0.458000 83 45 0 0 0.003610 0 0 ABCB8 11194 broad.mit.edu 37 7 150732708 150732708 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:150732708C>T uc003wil.4 + 6 950 c.857C>T c.(856-858)tCc>tTc p.S286F ABCB8_uc003wii.2_Missense_Mutation_p.S306F|ABCB8_uc010lpw.1_Missense_Mutation_p.S88F|ABCB8_uc010lpx.3_Missense_Mutation_p.S269F|ABCB8_uc011kvd.2_Missense_Mutation_p.S181F|ABCB8_uc003wim.4_Missense_Mutation_p.S64F|ABCB8_uc003wik.4_Missense_Mutation_p.S269F NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA. 286 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCCTGGTGTCCCTGTCCATG 0.647000 26 51 0 0 0.003610 0 0 FSHB 2488 broad.mit.edu 37 11 30255338 30255338 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:30255338G>A uc001msl.3 + 2 450 c.381G>A c.(379-381)atG>atA p.M127I FSHB_uc001msm.3_Missense_Mutation_p.M127I|FSHB_uc001msn.3_Missense_Mutation_p.M127I NM_000510 NP_001018090 P01225 FSHB_HUMAN Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA. 127 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) TTGGTGAAATGAAAGAATAAA 0.512000 25 29 0 0 0.006320 0 0 NEU3 10825 broad.mit.edu 37 11 74716573 74716573 + Missense_Mutation SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:74716573G>T uc001ovw.3 + 2 578 c.422G>T c.(421-423)cGg>cTg p.R141L NEU3_uc001ovv.3_Missense_Mutation_p.R131L|NEU3_uc010rrl.2_Missense_Mutation_p.R32L NM_006656 NP_006647 A8K327 A8K327_HUMAN Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA. 141 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 ATCTGTGTGCGGGGCCATGTC 0.547000 40 37 1.06647e-15 1.19099e-15 0.003755 1 0 ZNF420 147923 broad.mit.edu 37 19 37618929 37618929 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:37618929C>T uc002ofl.3 + 4 1251 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN Homo sapiens zinc finger protein 420 (ZNF420), mRNA. 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCCTTTATTCGGGGCTCACT 0.408000 31 38 0 0 0.005524 0 0 PROM2 150696 broad.mit.edu 37 2 95942031 95942031 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:95942031C>T uc002suk.3 + 3 687 c.554C>T c.(553-555)cCc>cTc p.P185L PROM2_uc002suh.2_Missense_Mutation_p.P185L|PROM2_uc002sui.3_Missense_Mutation_p.P185L|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 185 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 CAGATGGGCCCCAGCATCGAG 0.607000 61 19 0 0 0.007413 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102127 20102127 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:20102127G>A uc002zrk.1 - 7 1418 c.1203C>T c.(1201-1203)acC>acT p.T401T TRMT2A_uc002zrl.1_Silent_p.T401T|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.3_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN Homo sapiens TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) (TRMT2A), transcript variant 2, mRNA. 401 RNA processing RNA binding|RNA methyltransferase activity|nucleotide binding p.L400L(1) breast(2)|endometrium(2)|lung(5) 9 AGATCCGGAAGGTCAGCCCTA 0.632000 100 49 0 0 0.003610 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840680 1840680 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:1840680C>T uc002ftp.3 - 1 455 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA. 146 axon regeneration anchored to plasma membrane receptor activity p.F145F(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 TGCAGGCCGCCAAAGACGCCG 0.627000 31 26 0 0 0.004656 0 0 SHC2 25759 broad.mit.edu 37 19 430738 430738 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:430738G>A uc002loq.4 - 8 1120 c.1120C>T c.(1120-1122)Cct>Tct p.P374S NM_012435 NP_036567 P98077 SHC2_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA. 374 CH1. Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTAGAGAAGGAGATGGGCCC 0.637000 14 17 0 0 0.001523 0 0 NUB1 51667 broad.mit.edu 37 7 151052945 151052945 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:151052945C>T uc003wjx.3 + 5 595 c.579C>T c.(577-579)ttC>ttT p.F193F NUB1_uc003wjw.3_Silent_p.F169F|NUB1_uc003wjy.3_Non-coding_Transcript|NUB1_uc011kvj.1_Intron NM_001243351 NP_001230280 Q9Y5A7 NUB1_HUMAN Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA. 169 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GGAAAAACTTCCAGTTAGAGG 0.428000 24 5 0 0 0.000602 0 0 LCT 3938 broad.mit.edu 37 2 136564929 136564929 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:136564929G>A uc002tuu.1 - 8 3953 c.3942C>T c.(3940-3942)gtC>gtT p.V1314V NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1314 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) GAGACCAGGCGACATACCCTC 0.527000 36 36 0 0 0.006230 0 0 FAM83D 81610 broad.mit.edu 37 20 37580266 37580266 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:37580266C>T uc002xjg.3 + 3 992 c.951C>T c.(949-951)ttC>ttT p.F317F NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA. 287 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATCTGGAGTTCCGAATCCTGT 0.448000 55 24 0 0 0.002780 0 0 ODZ1 10178 broad.mit.edu 37 X 123680790 123680790 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:123680790C>T uc010nqy.3 - 14 2649 c.2585G>A c.(2584-2586)cGa>cAa p.R862Q ODZ1_uc011muj.2_Missense_Mutation_p.R861Q|ODZ1_uc004euj.3_Missense_Mutation_p.R862Q NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 862 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 GAATTTGATTCGATCATAAAA 0.408000 7 48 0 0 0.003214 0 0 C15orf40 123207 broad.mit.edu 37 15 83680267 83680267 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:83680267C>T uc010uoo.1 - 0 127 c.93G>A c.(91-93)aaG>aaA p.K31K C15orf40_uc010uon.2_Silent_p.K31K|C15orf40_uc002bjm.3_Silent_p.K31K|C15orf40_uc010uoq.2_Non-coding_Transcript|C15orf40_uc010uop.2_Silent_p.K31K|C15orf40_uc010uor.1_Silent_p.K31K NM_001160115 NP_001153587 Q8WUR7 CO040_HUMAN Homo sapiens chromosome 15 open reading frame 40 (C15orf40), transcript variant 4, mRNA. 4 p.D31N(1) large_intestine(3)|lung(2)|skin(1) 6 TCGCACCAGCCTTCTTAGGCA 0.682000 OREG0023391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 9 0 0 0.001368 0 0 LPAR3 23566 broad.mit.edu 37 1 85331271 85331271 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:85331271G>A uc001dkl.2 - 0 572 c.533C>T c.(532-534)tCc>tTc p.S178F LPAR3_uc009wcj.1_Missense_Mutation_p.S178F NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA. 178 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GGGGGCCAGGGAAGAGCAGGC 0.542000 33 46 0 0 0.002222 0 0 C1QTNF6 114904 broad.mit.edu 37 22 37581424 37581424 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:37581424G>A uc003aqx.1 - 1 386 c.123C>T c.(121-123)atC>atT p.I41I C1QTNF6_uc003aqw.1_Silent_p.I22I|C1QTNF6_uc003aqy.1_Silent_p.I41I|C1QTNF6_uc003aqz.1_Non-coding_Transcript NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA. 22 collagen breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 CCACCATAGGGATCTCACACA 0.607000 41 31 0 0 0.001786 0 0 TJP3 27134 broad.mit.edu 37 19 3743959 3743959 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:3743959G>A uc010xhv.2 + 13 1965 c.1965G>A c.(1963-1965)gtG>gtA p.V655V TJP3_uc010xhs.2_Silent_p.V622V|TJP3_uc010xht.2_Silent_p.V586V|TJP3_uc010xhu.2_Silent_p.V631V|TJP3_uc010xhw.2_Silent_p.V641V NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 636 Guanylate kinase-like. tight junction protein binding p.V655V(2) 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) GCCCGGTAGTGATCCTGGGAC 0.522000 51 47 0 0 0.003610 0 0 SAMHD1 25939 broad.mit.edu 37 20 35575208 35575208 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:35575208C>T uc002xgh.2 - 2 409 c.209_splice c.e2-1 p.E70_splice NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA. 70 SAM. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ATTTCATTTTCTATGGAAGAA 0.328000 11 9 0 0 0.008291 0 0 BAGE 574 broad.mit.edu 37 21 11049620 11049620 + Splice_Site SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:11049620C>T uc002yiu.1 - 4 480 c.280_splice c.e4-1 BAGE_uc002yit.1_Splice_Site_p.R94_splice NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. extracellular region Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATCTTCCTTCGCTATAATTA 0.373000 114 14 0 0 0.006122 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965889 35965889 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35965889C>T uc003jjv.2 - 3 635 c.442G>A c.(442-444)Gat>Aat p.D148N UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.D148N|UGT3A1_uc011cor.2_Missense_Mutation_p.D114N|UGT3A1_uc003jjy.2_Missense_Mutation_p.D94N NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 148 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAACAGAAATCAAATGCTTCA 0.393000 31 10 0 0 0.008291 0 0 BCO2 83875 broad.mit.edu 37 11 112088573 112088573 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:112088573C>T uc001pnf.3 + 11 1833 c.1716C>T c.(1714-1716)ttC>ttT p.F572F BCO2_uc001png.3_Silent_p.F499F|BCO2_uc001pnh.3_Silent_p.F538F|BCO2_uc010rwt.2_Silent_p.F467F|BCO2_uc009yyn.3_Silent_p.F532F|BCO2_uc001pni.3_Silent_p.F538F NM_031938 NP_001032367 Q9BYV7 BCDO2_HUMAN Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA. 572 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 CTTATGGGTTCCATGGTACCT 0.423000 5 26 0 0 0.006320 0 0 DNAH8 1769 broad.mit.edu 37 6 38851743 38851743 + Missense_Mutation SNP A T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:38851743A>T uc021yzh.1 + 55 8337 c.8228A>T c.(8227-8229)aAt>aTt p.N2743I DNAH8_uc003ooe.2_Missense_Mutation_p.N2526I 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 GATGATATTAATATGCCTGTG 0.338000 30 26 0 0 0.004656 0 0 APBB1IP 54518 broad.mit.edu 37 10 26849092 26849092 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:26849092G>A uc001iss.3 + 11 1535 c.1214G>A c.(1213-1215)aGa>aAa p.R405K NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA. 405 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 GATGACACAAGAACCCTTAAC 0.483000 58 33 0 0 0.003755 0 0 DDX60 55601 broad.mit.edu 37 4 169158505 169158505 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:169158505G>A uc003irp.3 - 31 4635 c.4343C>T c.(4342-4344)tCt>tTt p.S1448F NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1448 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AACAAGATTAGAAGGTTCATG 0.338000 24 9 0 0 0.000978 0 0 DEFB116 245930 broad.mit.edu 37 20 29891167 29891167 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:29891167C>T uc010ztm.2 - 1 157 c.157G>A c.(157-159)Gaa>Aaa p.E53K NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN Homo sapiens defensin, beta 116 (DEFB116), mRNA. 53 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATTTCATATTCTCTGCAGGCG 0.448000 186 60 0 0 0.003610 0 0 CHERP 10523 broad.mit.edu 37 19 16632418 16632418 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:16632418G>A uc002nei.1 - 11 2102 c.2028C>T c.(2026-2028)ctC>ctT p.L676L MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.L215L NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA. 676 Pro-rich. RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TGGGGGGTGGGAGGCGGATGT 0.652000 24 20 0 0 0.001882 0 0 CHRDL1 91851 broad.mit.edu 37 X 109963152 109963152 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:109963152C>T uc004eou.4 - 5 801 c.452G>A c.(451-453)gGa>gAa p.G151E CHRDL1_uc004eov.3_Missense_Mutation_p.G145E|CHRDL1_uc004eow.3_Missense_Mutation_p.G150E|CHRDL1_uc010nps.3_Missense_Mutation_p.G150E|CHRDL1_uc011mss.2_Intron NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA. 144 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 ATACACGTTTCCCTCCTGCCA 0.463000 4 45 0 0 0.002222 0 0 CACNG4 27092 broad.mit.edu 37 17 65020989 65020989 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:65020989C>T uc002jft.2 + 2 366 c.318C>T c.(316-318)gcC>gcT p.A106A NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA. 106 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCGTGCGAGCCTCCAGCGTCT 0.637000 78 65 0 0 0.003610 0 0 CDCA2 157313 broad.mit.edu 37 8 25364185 25364185 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:25364185C>T uc003xep.1 + 14 2480 c.2003C>T c.(2002-2004)tCg>tTg p.S668L DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S653L|CDCA2_uc003xer.1_Missense_Mutation_p.S331L NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 668 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGTTCCTCATCGCTTGGCAAT 0.313000 52 9 0 0 0.006214 0 0 NPLOC4 55666 broad.mit.edu 37 17 79539070 79539070 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:79539070G>A uc002kau.3 - 12 1508 c.1326C>T c.(1324-1326)ccC>ccT p.P442P NPLOC4_uc002kat.4_Silent_p.P442P|NPLOC4_uc010wur.1_Silent_p.P281P|NPLOC4_uc002kas.3_5'Flank NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA. 442 ER-associated protein catabolic process|Golgi organization|cellular membrane fusion cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CCACAGGCAGGGGCCGGGCCA 0.562000 23 8 0 0 0.003080 0 0 FAM123C 205147 broad.mit.edu 37 2 131520963 131520963 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:131520963G>A uc021voy.1 + 0 1318 c.1318G>A c.(1318-1320)Gat>Aat p.D440N FAM123C_uc002trw.2_Missense_Mutation_p.D440N|FAM123C_uc010fmv.2_Missense_Mutation_p.D440N|FAM123C_uc010fms.1_Missense_Mutation_p.D440N|FAM123C_uc010fmt.1_Missense_Mutation_p.D440N|FAM123C_uc010fmu.1_Missense_Mutation_p.D440N NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 440 p.D440N(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CAGCCCAGATGATGACCTGTG 0.662000 29 29 0 0 0.001786 0 0 UHRF1 29128 broad.mit.edu 37 19 4911012 4911012 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:4911012G>A uc002mbp.3 + 0 447 c.154G>A c.(154-156)Gag>Aag p.E52K C19orf31_uc002mbn.1_5'Flank|UHRF1_uc002mbo.3_Missense_Mutation_p.E39K|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript NM_013282 NP_037414 Q96T88 UHRF1_HUMAN Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA. 39 Ubiquitin-like. DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GTTCCACGTGGAGCCAGGCCT 0.642000 OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 22 0 0 0.003954 0 0 PLCL1 5334 broad.mit.edu 37 2 198950711 198950711 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:198950711C>T uc010fsp.3 + 1 2868 c.2470C>T c.(2470-2472)Cgg>Tgg p.R824W PLCL1_uc002uuv.4_Missense_Mutation_p.R745W NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 824 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GCCTGGATATCGGCATGTTCC 0.453000 38 17 0 0 0.006122 0 0 GCG 2641 broad.mit.edu 37 2 163002103 163002103 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:163002103G>A uc002ucc.3 - 3 595 c.339C>T c.(337-339)ggC>ggT p.G113G NM_002054 NP_002045 P01275 GLUC_HUMAN Homo sapiens glucagon (GCG), mRNA. 113 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) TGGCAGCTTGGCCTTCCAAAT 0.418000 74 121 0 0 0.003610 0 0 PSG3 5671 broad.mit.edu 37 19 43382078 43382078 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:43382078G>A uc002ovd.1 - 1 555 c.417C>T c.(415-417)acC>acT p.T139T PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.T139T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.T139T|PSG3_uc002ova.2_Silent_p.T139T|PSG3_uc002ouz.2_Silent_p.T139T|PSG3_uc002ovb.3_Silent_p.T139T NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 139 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GTAAGGTGAAGGTGAAACGTC 0.527000 80 106 0 0 0.003610 0 0 PLA2G3 50487 broad.mit.edu 37 22 31532705 31532705 + Missense_Mutation SNP T G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:31532705T>G uc003aka.3 - 5 1409 c.1280A>C c.(1279-1281)aAg>aCg p.K427T NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 427 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 AGGGGCCAGCTTGAAGCAGGT 0.577000 106 84 0 0 0.003610 0 0 FAM193A 8603 broad.mit.edu 37 4 2695495 2695495 + Missense_Mutation SNP A C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:2695495A>C uc010ick.3 + 14 2714 c.2713A>C c.(2713-2715)Aca>Cca p.T905P FAM193A_uc003gfd.3_Missense_Mutation_p.T705P|FAM193A_uc011bvm.2_Missense_Mutation_p.T727P|FAM193A_uc011bvn.2_Missense_Mutation_p.T705P|FAM193A_uc010icl.3_Missense_Mutation_p.T705P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.T559P NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 705 Glu-rich. NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ATTCCCCAAAACAGCAACCAC 0.607000 78 65 0 0 0.003610 0 0 AGXT 189 broad.mit.edu 37 2 241808385 241808385 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:241808385C>T uc002waa.4 + 0 224 c.103C>T c.(103-105)Cct>Tct p.P35S AGXT_uc010zoi.1_Missense_Mutation_p.P35S NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 35 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAACCTGCCTCCTCGCATCAT 0.657000 40 22 0 0 0.007291 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133978234 133978234 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:133978234G>A uc001lkx.4 + 19 2479 c.2479G>A c.(2479-2481)Gaa>Aaa p.E827K JAKMIP3_uc009yba.1_Missense_Mutation_p.E264K NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGAACTGGAGGAAAAGGTAAA 0.433000 6 12 0 0 0.001368 0 0 CACNA1S 779 broad.mit.edu 37 1 201054654 201054654 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:201054654G>A uc001gvv.3 - 7 1287 c.1060C>T c.(1060-1062)Cgg>Tgg p.R354W NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 354 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGCTTCTCCCGGAGCTTCTGG 0.572000 OREG0014068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 4 0 0 0.000602 0 0 COL5A1 1289 broad.mit.edu 37 9 137707437 137707437 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:137707437C>T uc004cfe.3 + 50 4412 c.4030C>T c.(4030-4032)Cct>Tct p.P1344S NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1344 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P1344S(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGTGGGTTTTCCTGGAGATCC 0.622000 2 9 0 0 0.008291 0 0 LILRA5 353514 broad.mit.edu 37 19 54818732 54818732 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:54818732C>T uc002qfe.3 - 6 986 c.866G>A c.(865-867)aGc>aAc p.S289N LILRA5_uc002qff.3_Missense_Mutation_p.S277N NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 289 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCTTCTCTGGCTGTGCCAATC 0.522000 51 16 0 0 0.004007 0 0 NRXN3 9369 broad.mit.edu 37 14 78710054 78710054 + RNA SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:78710054C>T uc001xum.1 + 1 c.1411C>T Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTGAGCGTCCCTGTGAAAATG 0.577000 29 34 0 0 0.002445 0 0 USP10 9100 broad.mit.edu 37 16 84806182 84806182 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:84806182C>T uc010voe.2 + 12 2297 c.2046C>T c.(2044-2046)ctC>ctT p.L682L USP10_uc002fii.3_Silent_p.L678L|USP10_uc010vof.2_Silent_p.L240L|USP10_uc002fij.3_Silent_p.L204L NM_005153 NP_005144 Q14694 UBP10_HUMAN Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA. 678 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 TGGAAAAACTCCCTCCTGTCC 0.463000 84 91 0 0 0.003610 0 0 ERC2 26059 broad.mit.edu 37 3 55922539 55922539 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:55922539C>T uc021wzo.1 - 12 2582 c.2442G>A c.(2440-2442)caG>caA p.Q814Q ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.Q810Q|ERC2_uc003dht.1_Silent_p.Q293Q NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 814 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.Q814H(3) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CATCCAGTTCCTGTCTGGTCT 0.517000 123 48 0 0 0.003610 0 0 ACP2 53 broad.mit.edu 37 11 47266324 47266325 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:47266324_47266325CC>TT uc001nei.3 - 6 850_851 c.733_734GG>AA c.(733-735)gga>AAa p.G245K ACP2_uc010rhe.2_Missense_Mutation_p.G217K|ACP2_uc009ylj.3_Missense_Mutation_p.G173K|ACP2_uc010rhf.2_Missense_Mutation_p.G213K|ACP2_uc010rhg.2_Missense_Mutation_p.G182K|ACP2_uc010rhh.2_Missense_Mutation_p.G58K|ACP2_uc009ylk.2_Missense_Mutation_p.G212K|ACP2_uc010rhi.1_Missense_Mutation_p.G58K NM_001610 NP_001601 P11117 PPAL_HUMAN Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA. 245 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CTGGTAGATTCCGAAGAGGAAG 0.599000 48 35 0 0 0.004672 0 0 RYR1 6261 broad.mit.edu 37 19 38996454 38996454 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:38996454G>A uc002oit.3 + 53 8539 c.8409G>A c.(8407-8409)gaG>gaA p.E2803E RYR1_uc002oiu.3_Silent_p.E2803E|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2803 6 X approximate repeats. 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) AGGACAAAGAGATTTACCGCT 0.567000 29 8 0 0 0.004482 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 880 881 + RNA DNP CA TG TG TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrGL000237.1:880_881CA>TG uc011mgu.1 - 1 c.337_338TG>CA Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. ccgtggctgccacaaccgcaga 0.579000 22 3 0 0 0.004672 0 0 POU2F3 25833 broad.mit.edu 37 11 120175804 120175804 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:120175804C>T uc021qrk.1 + 6 550 c.516C>T c.(514-516)ctC>ctT p.L172L POU2F3_uc001pxc.3_Silent_p.L170L|POU2F3_uc010rzk.2_Silent_p.L124L|POU2F3_uc010rzl.2_Silent_p.L100L|POU2F3_uc001pxe.1_5'Flank NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 170 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CCCAGCATCTCCCAGTGCCCA 0.577000 14 34 0 0 0.002836 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656921 8656921 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8656921G>A uc002mkj.1 - 13 1928 c.1654C>T c.(1654-1656)Ccg>Tcg p.P552S ADAMTS10_uc002mki.1_Silent_p.G42G|ADAMTS10_uc002mkk.1_Missense_Mutation_p.P184S NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 552 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGAGTCCACGGCCCCCAGGCT 0.682000 9 23 0 0 0.004656 0 0 ZNF768 79724 broad.mit.edu 37 16 30535882 30535882 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:30535882C>T uc002dyk.4 - 1 1755 c.1579G>A c.(1579-1581)Gac>Aac p.D527N ZNF768_uc010vex.2_Missense_Mutation_p.D496N|ZNF768_uc010vew.2_Missense_Mutation_p.D496N NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN Homo sapiens zinc finger protein 768 (ZNF768), mRNA. 527 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CGGATGAGGTCGGAGCTCTGG 0.682000 37 18 0 0 0.008871 0 0 MDN1 23195 broad.mit.edu 37 6 90424464 90424464 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:90424464G>A uc003pnn.1 - 45 6983 c.6867C>T c.(6865-6867)ttC>ttT p.F2289F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 2289 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCATCGAGAGGAAAAGTCTAG 0.428000 43 13 0 0 0.001855 0 0 ZNF560 147741 broad.mit.edu 37 19 9577647 9577647 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9577647T>A uc002mlp.1 - 9 2186 c.1976A>T c.(1975-1977)aAt>aTt p.N659I ZNF560_uc010dwr.1_Missense_Mutation_p.N553I NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTCACATGCATTACATTTATA 0.388000 33 41 0 0 0.007835 0 0 NCOA6 23054 broad.mit.edu 37 20 33334674 33334674 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:33334674C>T uc002xav.3 - 10 5422 c.2851G>A c.(2851-2853)Gaa>Aaa p.E951K NCOA6_uc002xaw.3_Missense_Mutation_p.E951K|NCOA6_uc021wcd.1_Missense_Mutation_p.E951K|NCOA6_uc021wce.1_Missense_Mutation_p.E951K|NCOA6_uc021wcf.1_Missense_Mutation_p.E951K NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 951 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATTCCTTGTTCTCCAGGCAAC 0.388000 43 31 0 0 0.004289 0 0 BSN 8927 broad.mit.edu 37 3 49662608 49662608 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:49662608C>T uc003cxe.4 + 1 539 c.425C>T c.(424-426)cCc>cTc p.P142L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 142 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.P142L(2) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGGCGGTCCCCCTCAGTGTCA 0.647000 15 30 0 0 0.008361 0 0 PNPLA8 50640 broad.mit.edu 37 7 108142951 108142951 + Missense_Mutation SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:108142951C>A uc003vff.1 - 5 1749 c.1342G>T c.(1342-1344)Gat>Tat p.D448Y PNPLA8_uc003vfi.1_Missense_Mutation_p.D348Y|PNPLA8_uc003vfh.1_Missense_Mutation_p.D448Y|PNPLA8_uc003vfj.1_Missense_Mutation_p.D448Y|PNPLA8_uc003vfk.1_Missense_Mutation_p.D348Y NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA. 448 Patatin. fatty acid metabolic process|lipid catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 CCTCCACCATCAATTGAGAGA 0.398000 36 73 9.13743e-30 1.02486e-29 0.003610 1 0 C9orf64 84267 broad.mit.edu 37 9 86554458 86554458 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:86554458G>A uc004anb.3 - 3 1242 c.994C>T c.(994-996)Ccg>Tcg p.P332S C9orf64_uc004anc.3_Missense_Mutation_p.P191S NM_032307 NP_115683 Q5T6V5 CI064_HUMAN Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA. 332 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CGATGAAACGGAATTCCTTTC 0.373000 6 20 0 0 0.007413 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799182 16799182 + Nonstop_Mutation SNP G C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:16799182G>C uc002nes.3 + 5 991 c.900G>C c.(898-900)taG>taC p.*300Y NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. 0 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 AGGCGGATTAGGGGGTGGCCC 0.642000 22 11 0 0 0.000978 0 0 KCNN2 3781 broad.mit.edu 37 5 113698918 113698918 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:113698918T>C uc003kqo.3 + 0 903 c.446T>C c.(445-447)aTg>aCg p.M149T NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA. 149 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ATCGTGGTCATGGTCATCGAG 0.637000 13 13 0 0 0.001855 0 0 GHRHR 2692 broad.mit.edu 37 7 31014610 31014610 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:31014610C>T uc003tbx.3 + 8 885 c.837C>T c.(835-837)tcC>tcT p.S279S GHRHR_uc003tby.3_Silent_p.S215S|GHRHR_uc003tbz.3_Missense_Mutation_p.P46S NM_000823 NP_000814 Q02643 GHRHR_HUMAN Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. 279 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) ACGACACCTCCCCCTACTGGT 0.587000 OREG0017943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 95 36 0 0 0.002522 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84558914 84558914 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:84558914C>T uc002bjz.4 + 10 1350 c.1126C>T c.(1126-1128)Cct>Tct p.P376S ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P376S NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 376 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGGGTAGTTCCTGACCATTA 0.408000 39 46 0 0 0.002522 0 0 OR2L2 26246 broad.mit.edu 37 1 248201573 248201573 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248201573G>A uc001idw.3 + 0 100 c.4G>A c.(4-6)Gaa>Aaa p.E2K OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) ATTCCCCATGGAAAATTACAA 0.388000 50 56 0 0 0.003610 0 0 OR5D18 219438 broad.mit.edu 37 11 55587294 55587294 + Silent SNP C T T rs145410438 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55587294C>T uc010rin.2 + 0 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F63F(2)|p.F62L(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TGTACTTTTTCCTCAGCCAAC 0.418000 123 80 0 0 0.003610 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484772 97484772 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:97484772G>A uc001vmw.3 + 1 760 c.736G>A c.(736-738)Gat>Aat p.D246N NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 246 3'-phosphate binding (Potential). integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AATGTTACGGGATCCAGTGTC 0.418000 20 21 0 0 0.002780 0 0 ENOSF1 55556 broad.mit.edu 37 18 683327 683327 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:683327G>A uc010dkf.3 - 10 869 c.858C>T c.(856-858)tcC>tcT p.S286S ENOSF1_uc002kku.4_Silent_p.S265S|ENOSF1_uc002kkt.4_Silent_p.S183S|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Silent_p.S84S NM_202758 NP_974487 Q7L5Y1 ENOF1_HUMAN Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA. 265 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 TGGCCAGCTTGGACATCCACT 0.567000 125 56 0 0 0.003610 0 0 A2M 2 broad.mit.edu 37 12 9265130 9265130 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9265130G>A uc001qvk.1 - 2 386 c.273C>T c.(271-273)gtC>gtT p.V91V A2M_uc009zgk.1_Intron NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 91 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AAGACTTTGGGACCTGAAATA 0.493000 36 6 0 0 0.001984 0 0 DPYSL4 10570 broad.mit.edu 37 10 134008372 134008372 + Missense_Mutation SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:134008372G>T uc009ybb.3 + 3 491 c.337G>T c.(337-339)Ggt>Tgt p.G113C NM_006426 NP_006417 O14531 DPYL4_HUMAN Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA. 113 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.G113S(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-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;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CCCCGACACGGGTGTGAGCCT 0.657000 10 47 3.68337e-26 4.12682e-26 0.003610 1 0 OFCC1 266553 broad.mit.edu 37 6 9933174 9933174 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:9933174C>T uc003myh.1 - 2 134 c.85G>A c.(85-87)Gaa>Aaa p.E29K OFCC1_uc010jog.1_Missense_Mutation_p.E4K|OFCC1_uc021yli.1_Non-coding_Transcript|OFCC1_uc003myj.1_Missense_Mutation_p.E29K|OFCC1_uc003myk.1_Non-coding_Transcript|OFCC1_uc003myn.3_Missense_Mutation_p.E29K|OFCC1_uc010joi.1_Missense_Mutation_p.E97K|OFCC1_uc010joh.1_Non-coding_Transcript|OFCC1_uc011dif.1_Missense_Mutation_p.E29K|OFCC1_uc011dig.1_Missense_Mutation_p.E29K SubName: Full=Uncharacterized protein; endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TCTCTATCTTCTTTAACTAGA 0.383000 118 77 0 0 0.003610 0 0 RING1 6015 broad.mit.edu 37 6 33177794 33177794 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:33177794G>A uc003odk.3 + 3 536 c.342G>A c.(340-342)cgG>cgA p.R114R RING1_uc011dqx.1_Silent_p.R114R|RING1_uc003odl.3_Silent_p.R85R NM_002931 NP_002922 Q06587 RING1_HUMAN Homo sapiens ring finger protein 1 (RING1), mRNA. 114 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex|cytoplasm|nuclear speck protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 ATCCTAGCCGGGAGGAATACG 0.572000 18 18 0 0 0.004990 0 0 ZNF793 390927 broad.mit.edu 37 19 38028549 38028549 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:38028549G>A uc010efm.3 + 7 1431 c.989G>A c.(988-990)cGa>cAa p.R330Q ZNF793_uc010xts.2_Missense_Mutation_p.R330Q NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R330Q(2) kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGTACATCGAAAAATGCAC 0.458000 16 9 0 0 0.006214 0 0 C20orf194 25943 broad.mit.edu 37 20 3277506 3277506 + Splice_Site SNP A T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:3277506A>T uc002wii.2 - 23 2069 c.2018_splice c.e23+1 p.L673_splice C20orf194_uc002wij.3_Splice_Site_p.L412_splice|C20orf194_uc002wik.2_Splice_Site_p.L347_splice NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA. 673 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GCAGCCACTTACAATCTCTTT 0.453000 195 51 0 0 0.003610 0 0 GRIN1 2902 broad.mit.edu 37 9 140058347 140058347 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:140058347G>A uc004clk.3 + 17 2910 c.2580G>A c.(2578-2580)aaG>aaA p.K860K GRIN1_uc004cli.1_Silent_p.K535K|GRIN1_uc004clj.1_Silent_p.K857K|GRIN1_uc004cln.3_Silent_p.K881K|GRIN1_uc004clo.3_Silent_p.K881K|GRIN1_uc004clm.3_Silent_p.K860K|GRIN1_uc004cll.3_Silent_p.K860K NM_007327 NP_015566 Q05586 NMDZ1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA. 860 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) TGTGGCGGAAGAACCTGCAGG 0.652000 26 35 0 0 0.003755 0 0 UNC13C 440279 broad.mit.edu 37 15 54919182 54919182 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:54919182G>A uc021smr.1 + 30 6510 c.6510G>A c.(6508-6510)ctG>ctA p.L2170L UNC13C_uc021sms.1_Silent_p.L2172L|UNC13C_uc002acm.3_Silent_p.L93L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 2172 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCCTCTTCTGAAAAATATCT 0.393000 33 32 0 0 0.002836 0 0 ARGFX 503582 broad.mit.edu 37 3 121289566 121289566 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:121289566G>A uc003eef.3 + 1 101 c.6G>A c.(4-6)agG>agA p.R2R NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) AAACCATGAGGAACAGAATGG 0.473000 31 27 0 0 0.007291 0 0 PRMT2 3275 broad.mit.edu 37 21 48064319 48064320 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:48064319_48064320CC>TT uc002zjx.3 + 4 580_581 c.246_247CC>TT c.(244-249)aaccat>aaTTat p.H83Y PRMT2_uc021wkc.1_Missense_Mutation_p.H83Y|PRMT2_uc002zjw.3_Missense_Mutation_p.H83Y|PRMT2_uc002zjy.3_Missense_Mutation_p.H83Y|PRMT2_uc010gqm.3_Missense_Mutation_p.H83Y|PRMT2_uc011aga.2_Missense_Mutation_p.H83Y|PRMT2_uc011agb.2_Missense_Mutation_p.H83Y|PRMT2_uc011agc.2_Missense_Mutation_p.H83Y|PRMT2_uc002zjz.1_5'UTR NM_206962 NP_996845 P55345 ANM2_HUMAN Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA. 83 Interaction with RB1 (By similarity).|SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) TTCCGGCAAACCATGTGGGGAA 0.510000 21 56 0 0 0.004672 0 0 FGGY 55277 broad.mit.edu 37 1 60091681 60091681 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:60091681C>T uc009wac.3 + 9 1245 c.1033C>T c.(1033-1035)Cat>Tat p.H345Y FGGY_uc001czg.2_Missense_Mutation_p.H233Y|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.H345Y|FGGY_uc001czl.4_Missense_Mutation_p.H257Y|FGGY_uc001czm.4_Missense_Mutation_p.H46Y NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 345 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GGTACAAGGCCATGCTGCTTT 0.348000 29 6 0 0 0.003080 0 0 NR4A1 3164 broad.mit.edu 37 12 52450363 52450363 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:52450363C>T uc001rzs.3 + 4 1411 c.1092C>T c.(1090-1092)ctC>ctT p.L364L NR4A1_uc010sno.2_Silent_p.L377L|NR4A1_uc001rzt.3_Silent_p.L364L|NR4A1_uc009zmc.3_Missense_Mutation_p.S7F NM_002135 NP_775180 P22736 NR4A1_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA. 364 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CTGCCAATCTCCTCACTTCCC 0.627000 66 58 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47480796 47480796 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:47480796C>T uc002leb.2 - 12 1843 c.1555G>A c.(1555-1557)Gga>Aga p.G519R MYO5B_uc021ukb.1_Missense_Mutation_p.G518R NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 519 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGGTCAGTTCCTTTGGGGACC 0.577000 38 30 0 0 0.001786 0 0 ATHL1 80162 broad.mit.edu 37 11 293411 293412 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:293411_293412CC>TT uc010qvu.2 + 8 1504_1505 c.1389_1390CC>TT c.(1387-1392)atcccc>atTTcc p.P464S ATHL1_uc001lor.4_Intron|ATHL1_uc001los.1_Missense_Mutation_p.P491S|ATHL1_uc001lou.4_Missense_Mutation_p.P39S|ATHL1_uc001lov.4_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA. 464 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GTCTTCCCATCCCCAGCCAGTG 0.629000 33 19 0 0 0.004672 0 0 OTOGL 283310 broad.mit.edu 37 12 80665537 80665537 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:80665537C>T uc001szd.3 + 22 2607 c.2601C>T c.(2599-2601)aaC>aaT p.N867N NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAGCCATGAACTTCACCTGCA 0.473000 40 34 0 0 0.004289 0 0 EDNRA 1909 broad.mit.edu 37 4 148407088 148407088 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:148407088G>A uc003iky.3 + 1 785 c.255G>A c.(253-255)gtG>gtA p.V85V EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.V85V|EDNRA_uc010ipe.1_Silent_p.V85V|EDNRA_uc010ipf.1_Non-coding_Transcript NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 85 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTAACACTGTGATATCTTGTA 0.428000 52 29 0 0 0.001786 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337681 94337681 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:94337681G>A uc001dqf.3 - 4 2072 c.2014C>T c.(2014-2016)Ccg>Tcg p.P672S DNTTIP2_uc010otm.2_Non-coding_Transcript NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA. 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) AATCTTTTCGGGTCCATGCTG 0.398000 194 52 0 0 0.003610 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12847412 12847412 + Missense_Mutation SNP G C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:12847412G>C uc002gnr.4 + 9 1087 c.760G>C c.(760-762)Ggg>Cgg p.G254R ARHGAP44_uc010vvk.2_Missense_Mutation_p.G254R|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G254R|ARHGAP44_uc002gns.4_Missense_Mutation_p.G54R|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G254R|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 254 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GCCTTCCTTCGGGAAGCCGCT 0.587000 14 10 0 0 0.008291 0 0 C15orf27 123591 broad.mit.edu 37 15 76496210 76496210 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:76496210G>A uc002bbq.3 + 10 1305 c.1150G>A c.(1150-1152)Gcc>Acc p.A384T C15orf27_uc010bkp.3_Missense_Mutation_p.A200T|C15orf27_uc002bbr.3_Missense_Mutation_p.A200T|C15orf27_uc002bbs.3_Missense_Mutation_p.A62T NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 384 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TGGCACCAGCGCCACCTCGGA 0.632000 48 21 0 0 0.008871 0 0 AIM1L 55057 broad.mit.edu 37 1 26669298 26669299 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:26669298_26669299GG>AA uc001bmd.4 - 4 3300_3301 c.3150_3151CC>TT c.(3148-3153)acccca>acTTca p.P1051S NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 6 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TTTGTCCCTGGGGTTCTGAGTT 0.584000 109 69 0 0 0.004672 0 0 HGD 3081 broad.mit.edu 37 3 120360465 120360465 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:120360465C>T uc003edw.3 - 10 1310 c.850G>A c.(850-852)Gtt>Att p.V284I HGD_uc003edv.3_Missense_Mutation_p.V143I NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 284 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) GAGTTGATAACCATGAAATTC 0.502000 36 52 0 0 0.003610 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425174 71425175 + Missense_Mutation DNP CC TT TT rs78660817 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:71425174_71425175CC>TT uc004eaq.1 - 1 3539_3540 c.3442_3443GG>AA c.(3442-3444)gga>AAa p.G1148K PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.G1025K NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA. 1148 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) CAGTGTTTCTCCGGAAGGATCC 0.500000 5 43 0 0 0.004672 0 0 RND1 27289 broad.mit.edu 37 12 49254822 49254822 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:49254822C>T uc001rsn.3 - 3 514 c.411G>A c.(409-411)atG>atA p.M137I NM_014470 NP_055285 Q92730 RND1_HUMAN Homo sapiens Rho family GTPase 1 (RND1), mRNA. 137 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GGGACAGCTCCATCAGAGTAC 0.562000 67 47 0 0 0.003610 0 0 FAM194A 131831 broad.mit.edu 37 3 150384765 150384765 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:150384765G>A uc003eyg.3 - 12 1594 c.1537C>T c.(1537-1539)Caa>Taa p.Q513* FAM194A_uc003eyh.3_Nonsense_Mutation_p.Q367* NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 513 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTGCCGGCTTGATCTGAATAT 0.368000 43 62 0 0 0.003610 0 0 TTLL6 284076 broad.mit.edu 37 17 46862366 46862366 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:46862366C>T uc021tzm.1 - 12 1994 c.1959G>A c.(1957-1959)tcG>tcA p.S653S TTLL6_uc002iob.3_Silent_p.S346S|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.S406S|TTLL6_uc002iod.3_Silent_p.S500S NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 605 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GCTCCAACTTCGAGCTGCTGA 0.542000 83 30 0 0 0.001786 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036627 13036627 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:13036627G>A uc009vnq.1 + 1 699 c.699G>A c.(697-699)atG>atA p.M233I PRAMEF6_uc001aur.2_Intron NM_001100631 NP_001094101 A3QJZ6 PRA22_HUMAN Homo sapiens PRAME family member 22 (PRAMEF22), mRNA. 233 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 TGAGCCAGATGAGGAATCTTC 0.458000 179 54 0 0 0.003610 0 0 SERPINB3 6317 broad.mit.edu 37 18 61326686 61326686 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:61326686C>T uc002lji.3 - 3 442 c.298G>A c.(298-300)Gag>Aag p.E100K SERPINB3_uc002ljg.3_Missense_Mutation_p.E100K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E100K|SERPINB3_uc010dqb.3_Missense_Mutation_p.E100K NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 100 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ATCTTCAGCTCATATGCATCA 0.393000 49 36 0 0 0.006999 0 0 OR5L2 26338 broad.mit.edu 37 11 55594730 55594730 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55594730C>T uc001nhy.1 + 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E11V(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGGCTGAGTTCATTCTCCTTG 0.433000 HNSCC(27;0.073) 135 74 0 0 0.003610 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091757 220091757 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:220091757G>A uc001hlw.3 - 2 1009 c.798C>T c.(796-798)ccC>ccT p.P266P RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlv.3_Silent_p.P21P|SLC30A10_uc001hlx.3_Silent_p.P41P NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA. 266 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) CACTCTTCAGGGGAAGCACAT 0.507000 73 25 0 0 0.005443 0 0 CHURC1-FNTB 100529261 broad.mit.edu 37 14 65381170 65381170 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:65381170C>T uc010tsl.2 + 0 92 c.38C>T c.(37-39)tCt>tTt p.S13F CHURC1-FNTB_uc010tsk.2_Missense_Mutation_p.S13F|CHURC1-FNTB_uc010tsj.2_Missense_Mutation_p.S13F|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Missense_Mutation_p.S13F|CHURC1-FNTB_uc001xhv.2_5'UTR|CHURC1-FNTB_uc001xhw.2_Missense_Mutation_p.S13F NM_001202559 NP_001189488 B4DL54 B4DL54_HUMAN Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA. 0 multicellular organismal development|positive regulation of transcription, DNA-dependent transferase activity|zinc ion binding GAGGTTTCGTCTTCCCGGAAG 0.602000 62 31 0 0 0.002836 0 0 BCL2A1 597 broad.mit.edu 37 15 80253445 80253445 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:80253445G>A uc002bfc.4 - 1 674 c.492C>T c.(490-492)atC>atT p.I164I BCL2A1_uc002bfd.4_3'UTR NM_004049 NP_004040 Q16548 B2LA1_HUMAN Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA. 164 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 GCATTTCACAGATCTTTCCTG 0.353000 15 14 0 0 0.002450 0 0 ABCC10 89845 broad.mit.edu 37 6 43400499 43400499 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:43400499C>T uc003ouy.1 + 2 996 c.781C>T c.(781-783)Cgt>Tgt p.R261C ABCC10_uc003ouz.1_Missense_Mutation_p.R218C|ABCC10_uc010jyo.1_5'Flank NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 261 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R218C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTACCTGGCTCGTGTCTTCCA 0.652000 26 23 0 0 0.002780 0 0 MAPK7 5598 broad.mit.edu 37 17 19284080 19284080 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:19284080C>T uc002gvn.3 + 3 944 c.558C>T c.(556-558)tcC>tcT p.S186S B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Silent_p.S47S|MAPK7_uc002gvq.3_Silent_p.S186S|MAPK7_uc002gvp.3_Silent_p.S186S NM_139033 NP_620601 Q13164 MK07_HUMAN Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA. 186 Necessary for oligomerization (By similarity).|Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|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|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TGAAGCCCTCCAACCTATTGG 0.552000 11 10 0 0 0.006214 0 0 ADAM12 8038 broad.mit.edu 37 10 127753538 127753538 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:127753538G>A uc001ljk.2 - 13 1868 c.1455C>T c.(1453-1455)tcC>tcT p.S485S ADAM12_uc010qul.1_Silent_p.S436S|ADAM12_uc001ljm.3_Silent_p.S485S|ADAM12_uc001ljn.3_Silent_p.S482S|ADAM12_uc001ljl.4_Silent_p.S482S NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 485 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AGGAGTTGCTGGAGTCCCTGC 0.597000 4 7 0 0 0.001984 0 0 TLR3 7098 broad.mit.edu 37 4 187004681 187004681 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:187004681C>T uc003iyq.3 + 3 1942 c.1841C>T c.(1840-1842)tCa>tTa p.S614L TLR3_uc011ckz.2_Missense_Mutation_p.S337L|TLR3_uc003iyr.3_Missense_Mutation_p.S337L NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 614 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TCTCTAAAGTCATTGAACCTT 0.368000 19 30 0 0 0.002836 0 0 NEB 4703 broad.mit.edu 37 2 152534256 152534256 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:152534256C>T uc021vrb.1 - 31 3626 c.3597G>A c.(3595-3597)tgG>tgA p.W1199* NEB_uc002txu.3_Nonsense_Mutation_p.W1199*|NEB_uc021vrc.1_Nonsense_Mutation_p.W1199*|NEB_uc010fnx.3_Nonsense_Mutation_p.W1199*|NEB_uc021vrd.1_Nonsense_Mutation_p.W1199* NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1199 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCCTTTCATCCAGTTGTTGT 0.458000 175 71 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934623 9934623 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:9934623G>A uc010uym.2 - 7 1842 c.1532C>T c.(1531-1533)tCg>tTg p.S511L GRIN2A_uc002czo.4_Missense_Mutation_p.S511L|GRIN2A_uc010uyn.2_Missense_Mutation_p.S354L|GRIN2A_uc002czr.4_Missense_Mutation_p.S511L NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 511 Glutamate binding (By similarity). 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) GATGGTGAGCGAGCCAACTGC 0.448000 63 14 0 0 0.003163 0 0 POM121L12 285877 broad.mit.edu 37 7 53103598 53103598 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:53103598C>T uc003tpz.3 + 0 250 c.234C>T c.(232-234)atC>atT p.I78I NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 78 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCACCTCATCGAGGTGCGGC 0.716000 45 20 0 0 0.001882 0 0 SLIT2 9353 broad.mit.edu 37 4 20620478 20620478 + Missense_Mutation SNP G A A rs147726667 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:20620478G>A uc003gpr.1 + 36 4640 c.4436G>A c.(4435-4437)cGa>cAa p.R1479Q SLIT2_uc003gps.1_Missense_Mutation_p.R1471Q NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1479 CTCK. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding p.R1479Q(2)|p.R1479R(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AAGGTGTCCCGATTAGAGTGC 0.507000 18 25 0 0 0.002780 0 0 ASAH2 56624 broad.mit.edu 37 10 52008287 52008287 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:52008287G>A uc001jjd.3 - 0 84 c.84C>T c.(82-84)ctC>ctT p.L28L ASAH2_uc009xos.3_Silent_p.L28L NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 28 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 ACAAGAGGCTGAGAAGGGCCA 0.448000 12 31 0 0 0.003755 0 0 TBC1D4 9882 broad.mit.edu 37 13 75863150 75863150 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:75863150C>T uc001vjl.1 - 19 3930 c.3583G>A c.(3583-3585)Gat>Aat p.D1195N TBC1D4_uc010tht.1_Missense_Mutation_p.D405N|TBC1D4_uc010thu.1_Missense_Mutation_p.D352N|TBC1D4_uc010aer.2_Missense_Mutation_p.D1187N|TBC1D4_uc010aes.2_Missense_Mutation_p.D1132N NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 1195 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GTTTCACTATCCTCACAGGAA 0.398000 51 42 0 0 0.002852 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955687 18955687 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:18955687G>A uc001mpg.3 - 0 863 c.645C>T c.(643-645)taC>taT p.Y215Y NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 215 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGATGGTCACGTACAGCCTGG 0.517000 55 17 0 0 0.004007 0 0 ZEB2 9839 broad.mit.edu 37 2 145157783 145157783 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:145157783G>A uc002tvu.3 - 7 1493 c.971C>T c.(970-972)tCc>tTc p.S324F ZEB2_uc010zbm.2_Missense_Mutation_p.S300F|ZEB2_uc002tvv.3_Missense_Mutation_p.S318F|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S353F NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 324 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CGAACTGTAGGAACCAGAATG 0.373000 22 9 0 0 0.008291 0 0 DNAH1 25981 broad.mit.edu 37 3 52433084 52433084 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:52433084G>A uc011bef.2 + 75 12569 c.12308G>A c.(12307-12309)tGg>tAg p.W4103* DNAH1_uc003ddv.3_Nonsense_Mutation_p.W961* NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 4168 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGCAGGCCTGGATCCAAGAT 0.542000 87 114 0 0 0.003610 0 0 NES 10763 broad.mit.edu 37 1 156641393 156641393 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:156641393G>A uc001fpq.3 - 3 2720 c.2587C>T c.(2587-2589)Cta>Tta p.L863L NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 863 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCTTTTCTAGAGGATTCATT 0.458000 122 22 0 0 0.001882 0 0 PCNXL2 80003 broad.mit.edu 37 1 233152691 233152691 + Silent SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233152691T>C uc001hvl.2 - 26 5050 c.4815A>G c.(4813-4815)caA>caG p.Q1605Q PCNXL2_uc001hvk.1_Silent_p.Q257Q|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1605 integral to membrane p.Q1605K(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTGCACAGTGTTGAATCCATT 0.433000 46 37 0 0 0.004878 0 0 ELF5 2001 broad.mit.edu 37 11 34533099 34533099 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:34533099G>A uc001mvo.1 - 0 248 c.18C>T c.(16-18)caC>caT p.H6H ELF5_uc021qft.1_Silent_p.H6H|ELF5_uc001mvp.2_Intron|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Intron NM_198381 NP_001413 Q9UKW6 ELF5_HUMAN Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA. 6 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) ACCTGTGGGAGTGAGGCAGAG 0.522000 51 12 0 0 0.001368 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:189587118C>T uc003fry.2 + 8 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 379 Interaction with HIPK2. 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.R379C(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) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 28 12 0 0 0.003163 0 0 MYOC 4653 broad.mit.edu 37 1 171605430 171605430 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:171605430C>T uc001ghu.3 - 2 1172 c.1150G>A c.(1150-1152)Gat>Aat p.D384N MYOC_uc010pmk.2_Missense_Mutation_p.D326N NM_000261 NP_000252 Q99972 MYOC_HUMAN Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA. 384 Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CCTGCTTCATCCACAGCCAAG 0.532000 60 26 0 0 0.003954 0 0 ABCA13 154664 broad.mit.edu 37 7 48316082 48316082 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:48316082C>T uc003toq.2 + 16 6843 c.6819C>T c.(6817-6819)tcC>tcT p.S2273S ABCA13_uc010kyr.2_Silent_p.S1776S|ABCA13_uc022acp.1_Silent_p.S772S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2273 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 CATTCTTCTCCCTTTTTCTAA 0.343000 38 14 0 0 0.003163 0 0 PTPRC 5788 broad.mit.edu 37 1 198678823 198678823 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:198678823G>A uc001gur.1 + 10 1215 c.1035G>A c.(1033-1035)atG>atA p.M345I PTPRC_uc001gut.1_Missense_Mutation_p.M184I|PTPRC_uc009wzf.1_Missense_Mutation_p.M233I|PTPRC_uc021pgy.1_Missense_Mutation_p.M299I|PTPRC_uc010ppg.1_Missense_Mutation_p.M281I NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 345 B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CAGGTAATATGATATTTGATA 0.254000 17 12 0 0 0.000978 0 0 FOXK2 3607 broad.mit.edu 37 17 80529660 80529660 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:80529660C>T uc002kfn.3 + 3 994 c.823C>T c.(823-825)Ccc>Tcc p.P275S FOXK2_uc002kfm.1_Missense_Mutation_p.P275S|FOXK2_uc010diu.3_Missense_Mutation_p.P275S NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 275 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TACGATGGCTCCCGACAAACA 0.443000 22 15 0 0 0.004007 0 0 CADM2 253559 broad.mit.edu 37 3 85961612 85961612 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:85961612G>A uc003dql.3 + 4 598 c.598G>A c.(598-600)Gga>Aga p.G200R CADM2_uc003dqj.3_Missense_Mutation_p.G198R|CADM2_uc003dqk.3_Missense_Mutation_p.G207R|CADM2_uc003dqm.2_Missense_Mutation_p.G90R|CADM2_uc021xay.1_Missense_Mutation_p.G90R|CADM2_uc021xaz.1_Missense_Mutation_p.G90R|CADM2_uc021xba.1_Missense_Mutation_p.G90R NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 198 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAGTGATGATGGAGTGGCGGT 0.453000 29 15 0 0 0.004990 0 0 RGS12 6002 broad.mit.edu 37 4 3318942 3318942 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:3318942C>T uc003ggw.3 + 1 1949 c.1045C>T c.(1045-1047)Cac>Tac p.H349Y RGS12_uc003ggu.2_Missense_Mutation_p.H349Y|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.H349Y|RGS12_uc003ggx.1_Missense_Mutation_p.H349Y NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 349 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTTTAATCACAAGATCCA 0.607000 101 36 0 0 0.003271 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582717 90582717 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:90582717A>G uc001kfj.4 - 5 925 c.557T>C c.(556-558)aTg>aCg p.M186T NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA. 186 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) TTTCCTTAGCATTAATTCAAT 0.403000 20 64 0 0 0.003610 0 0 SRBD1 55133 broad.mit.edu 37 2 45774702 45774702 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:45774702G>A uc002rus.3 - 12 1801 c.1725C>T c.(1723-1725)ttC>ttT p.F575F SRBD1_uc010yoc.2_Silent_p.F94F NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 575 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds p.G574G(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CCGCCTCTCGGAAGCCTTGTC 0.328000 19 10 0 0 0.000978 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401833 139401833 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:139401833G>A uc004chz.3 - 21 3567 c.3567C>T c.(3565-3567)tcC>tcT p.S1189S NOTCH1_uc004cia.1_Silent_p.S419S NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 1189 EGF-like 31; calcium-binding (Potential). Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCAGGGGTGGGAGAGGCACT 0.687000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 6 0 0 0.001168 0 0 TRPC5 7224 broad.mit.edu 37 X 111020103 111020103 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:111020103C>T uc004epl.1 - 10 3279 c.2360G>A c.(2359-2361)aGt>aAt p.S787N NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 787 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGCCCCACCACTGCCATCATT 0.478000 18 146 0 0 0.003610 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64492946 64492946 + Silent SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:64492946A>G uc003jtp.3 - 20 3422 c.2608T>C c.(2608-2610)Ttg>Ctg p.L870L ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 870 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TTGTCATCCAACCTTTTACAG 0.438000 35 15 0 0 0.004007 0 0 MKNK1 8569 broad.mit.edu 37 1 47027158 47027158 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:47027158C>T uc001cqb.3 - 11 1364 c.1120G>A c.(1120-1122)Gtg>Atg p.V374M MKNK1_uc010omd.2_Missense_Mutation_p.V238M|MKNK1_uc001cqc.3_Missense_Mutation_p.V333M|MKNK1_uc009vyi.3_Missense_Mutation_p.V333M|MKNK1_uc010ome.2_Missense_Mutation_p.V238M|MKNK1_uc009vyj.3_3'UTR|LOC100507423_uc021onb.1_Intron NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA. 374 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) ACCCCCTGCACCCATGGGTGC 0.587000 19 11 0 0 0.000978 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964217 88964217 + Missense_Mutation SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:88964217C>A uc011khi.2 + 3 2459 c.1921C>A c.(1921-1923)Ccc>Acc p.P641T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 641 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAATTGATTCCCTGCAGTCC 0.428000 HNSCC(36;0.09) 13 29 3.80469e-20 4.25352e-20 0.001786 1 0 THBS3 7059 broad.mit.edu 37 1 155172680 155172680 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:155172680C>T uc001fix.3 - 7 985 c.880G>A c.(880-882)Gag>Aag p.E294K THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Missense_Mutation_p.E174K|THBS3_uc009wqi.3_Missense_Mutation_p.E285K|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 294 EGF-like 1. 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) CCTGGGTACTCGTACACTTCC 0.627000 54 33 0 0 0.001786 0 0 CYP2R1 120227 broad.mit.edu 37 11 14901713 14901713 + Silent SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:14901713A>G uc001mlr.3 - 2 969 c.969T>C c.(967-969)atT>atC p.I323I CYP2R1_uc001mlp.3_Silent_p.I206I|CYP2R1_uc001mlq.3_Non-coding_Transcript|CYP2R1_uc001mls.1_Silent_p.I268I NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1), mRNA. 323 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) CCATGAAAAGAATCGCCCACC 0.408000 26 19 0 0 0.008871 0 0 A2M 2 broad.mit.edu 37 12 9266120 9266120 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9266120G>A uc001qvk.1 - 1 219 c.106C>T c.(106-108)Ccc>Tcc p.P36S A2M_uc009zgk.1_5'UTR NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 36 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGCAGGGAGGGGACCAGAACC 0.493000 96 14 0 0 0.002450 0 0 GPR124 25960 broad.mit.edu 37 8 37697721 37697721 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:37697721C>T uc003xkj.3 + 16 2980 c.2594C>T c.(2593-2595)aCc>aTc p.T865I GPR124_uc010lvy.3_Missense_Mutation_p.T648I NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 865 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AAGGAGCTCACCTGGAGGGCA 0.612000 30 27 0 0 0.004656 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511738 233511738 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233511738G>A uc001hvt.4 + 6 2013 c.1752G>A c.(1750-1752)agG>agA p.R584R KIAA1804_uc001hvu.4_Silent_p.R30R NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 584 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) ATGTAAAAAGGAATTTTAAGA 0.348000 24 24 0 0 0.002780 0 0 BMP15 9210 broad.mit.edu 37 X 50659473 50659473 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:50659473G>A uc011mnw.2 + 1 1094 c.1045G>A c.(1045-1047)Gac>Aac p.D349N NM_005448 NP_005439 O95972 BMP15_HUMAN Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA. 349 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TCAGTTGGTGGACCAGAGTGT 0.463000 5 54 0 0 0.003610 0 0 ZNF48 197407 broad.mit.edu 37 16 30410313 30410313 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:30410313G>A uc002dya.2 + 1 2118 c.1742G>A c.(1741-1743)gGt>gAt p.G581D ZNF48_uc021tgi.1_Missense_Mutation_p.G581D|ZNF48_uc021tgj.1_Missense_Mutation_p.G458D|ZNF48_uc021tgk.1_Missense_Mutation_p.G581D NM_152652 NP_001201836 Q96MX3 ZNF48_HUMAN Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA. 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 AAGGGTTTTGGTGACAGTTCT 0.597000 71 50 0 0 0.003610 0 0 SOLH 6650 broad.mit.edu 37 16 597654 597654 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:597654G>A uc002chi.3 + 3 1179 c.816G>A c.(814-816)agG>agA p.R272R SOLH_uc002chh.1_Silent_p.R272R NM_005632 NP_005623 O75808 CAN15_HUMAN Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA. 272 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Hepatocellular(780;0.00335) CCGGCTGCAGGGGAGCCCCCC 0.721000 8 7 0 0 0.003080 0 0 WDR65 149465 broad.mit.edu 37 1 43647397 43647397 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:43647397C>T uc021omk.1 + 2 496 c.350C>T c.(349-351)cCa>cTa p.P117L EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.P106L|WDR65_uc001ciq.2_Missense_Mutation_p.P117L|WDR65_uc001cip.2_Missense_Mutation_p.P117L NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 117 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTTTTTCTCCAGACTCCAAA 0.403000 67 30 0 0 0.007291 0 0 ADAM7 8756 broad.mit.edu 37 8 24342831 24342831 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:24342831C>T uc003xeb.3 + 9 1030 c.917C>T c.(916-918)cCa>cTa p.P306L ADAM7_uc003xec.3_Missense_Mutation_p.P78L NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 306 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATTTCTTATCCAGGGGGTATG 0.338000 60 15 0 0 0.001882 0 0 REXO1 57455 broad.mit.edu 37 19 1818750 1818750 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:1818750C>T uc002lua.4 - 8 2952 c.2857G>A c.(2857-2859)Ggg>Agg p.G953R REXO1_uc010dsq.3_Missense_Mutation_p.G262R|REXO1_uc010xgs.1_5'UTR|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA. 953 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) ATTGCGCCCCCGGGCCGCTCT 0.667000 24 7 0 0 0.001984 0 0 C12orf56 115749 broad.mit.edu 37 12 64668753 64668754 + Splice_Site DNP TC AT AT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:64668753_64668754TC>AT uc021qzu.1 - 11 1510 c.1510_splice c.e11-1 p.G504_splice BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Splice_Site_p.G344_splice|C12orf56_uc001srz.3_Splice_Site|C12orf56_uc001sry.3_Splice_Site_p.G86_splice NM_001170633 NP_001164104 Q8IXR9 CL056_HUMAN Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA. 507 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) ATCCGAGATTTCCCTAAAAGAC 0.327000 59 31 0 0 0.004672 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060252 35060252 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:35060252C>T uc002xff.3 + 2 567 c.132C>T c.(130-132)gcC>gcT p.A44A DLGAP4_uc010zvp.2_Silent_p.A44A NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA. 44 cell-cell signaling membrane protein binding p.E43K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCGCGAGGCCCGCTTCCCCG 0.672000 32 20 0 0 0.001882 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516134 102516134 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:102516134C>T uc001yks.2 + 75 13763 c.13599C>T c.(13597-13599)agC>agT p.S4533S NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 4533 G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGGCCAACAGCTGGTCCCTGG 0.617000 6 29 0 0 0.005443 0 0 GJB3 2707 broad.mit.edu 37 1 35250783 35250783 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:35250783C>T uc001bxz.4 + 0 420 c.420C>T c.(418-420)atC>atT p.I140I GJB3_uc001bxx.3_Silent_p.I140I|GJB3_uc001bxy.3_Silent_p.I140I NM_024009 NP_076872 O75712 CXB3_HUMAN Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA. 140 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TCAAGCTCATCATTGAGTTCC 0.582000 66 54 0 0 0.003610 0 0 MBD5 55777 broad.mit.edu 37 2 149221446 149221446 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:149221446C>T uc002twm.4 + 7 1352 c.355C>T c.(355-357)Cca>Tca p.P119S MBD5_uc010zbs.2_Non-coding_Transcript NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 119 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CATGGAAGCCCCACATCCTTC 0.443000 32 29 0 0 0.002445 0 0 NLRP4 147945 broad.mit.edu 37 19 56370173 56370173 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:56370173C>T uc002qmd.4 + 2 1836 c.1414C>T c.(1414-1416)Cat>Tat p.H472Y NLRP4_uc002qmf.3_Missense_Mutation_p.H397Y|NLRP4_uc010etf.3_Missense_Mutation_p.H303Y NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 472 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCACCTTGATCATCCTCACCC 0.478000 75 37 0 0 0.004289 0 0 CFH 3075 broad.mit.edu 37 1 196871568 196871568 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:196871568C>T uc001gtp.3 + 1 216 c.79C>T c.(79-81)Cca>Tca p.P27S CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.P26S|CFH_uc001gto.3_Missense_Mutation_p.P27S NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 328 Sushi 1. complement activation, alternative pathway extracellular space p.R27I(1)|p.R27S(1)|p.R27>?(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGTGATTTTCCAGAAATTCA 0.279000 45 44 0 0 0.003610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70351018 70351018 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:70351018C>T uc003hek.4 - 4 1265 c.1218G>A c.(1216-1218)atG>atA p.M406I UGT2B4_uc011cap.2_Missense_Mutation_p.M270I|UGT2B4_uc003hel.4_Intron NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 406 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCTTGGCCTTCATGTGTGCAA 0.448000 126 87 0 0 0.003610 0 0 BC107108 0 broad.mit.edu 37 15 20362798 20362798 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:20362798C>T uc001yte.1 + 0 111 c.60C>T c.(58-60)ccC>ccT p.P20P RecName: Full=Putative BMS1-like protein ENSP00000383088; ACATTGACCCCCATTACCCCA 0.498000 22 8 0 0 0.008291 0 0 KCNH2 3757 broad.mit.edu 37 7 150656679 150656680 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:150656679_150656680GG>AA uc003wic.3 - 2 853_854 c.452_453CC>TT c.(451-453)ccc>cTT p.P151L KCNH2_uc011kux.2_Missense_Mutation_p.P55L|KCNH2_uc003wie.3_Missense_Mutation_p.P151L NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 151 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.T152fs*180(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GCCAGCTGGTGGGGGGGCCCCG 0.589000 70 14 0 0 0.004672 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507009 130507009 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:130507009G>A uc004bsc.3 - 6 1776 c.1634C>T c.(1633-1635)cCc>cTc p.P545L SH2D3C_uc010mxo.3_Missense_Mutation_p.P385L|SH2D3C_uc004bry.3_Missense_Mutation_p.P387L|SH2D3C_uc004brz.4_Missense_Mutation_p.P191L|SH2D3C_uc011mak.2_Missense_Mutation_p.P191L|SH2D3C_uc004bsb.3_Missense_Mutation_p.P477L|SH2D3C_uc004bsa.3_Missense_Mutation_p.P388L NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 545 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTCCACGATGGGGACTGTGAA 0.597000 18 72 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 107211365 107211365 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:107211365G>A uc021ser.1 - 14 c.1110C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.507000 57 22 0 0 0.002299 0 0 ADH1C 126 broad.mit.edu 37 4 100264011 100264011 + RNA SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:100264011C>T uc021xqi.1 - 5 c.854G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TCAGTCATTTCCTTTAGCACT 0.458000 262 206 0 0 0.003610 0 0 ANKAR 150709 broad.mit.edu 37 2 190557052 190557052 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:190557052C>T uc002uqw.2 + 3 1199 c.1111C>T c.(1111-1113)Cac>Tac p.H371Y ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqv.1_Missense_Mutation_p.H371Y NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 371 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CCAGAATTTTCACTACAAAGA 0.318000 17 16 0 0 0.003163 0 0 C6 729 broad.mit.edu 37 5 41186306 41186306 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:41186306G>A uc003jmk.2 - 5 802 c.592C>T c.(592-594)Cat>Tat p.H198Y C6_uc003jml.1_Missense_Mutation_p.H198Y NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 198 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCCAGAAAATGAAACCTAGAA 0.353000 29 10 0 0 0.008291 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049351 23049351 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:23049351C>T uc003xda.3 - 9 1369 c.1263G>A c.(1261-1263)cgG>cgA p.R421R NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 421 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCGAGGCGTTCCGTCCAGTTT 0.512000 85 29 0 0 0.002096 0 0 LARP4 113251 broad.mit.edu 37 12 50854978 50854978 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:50854978C>T uc001rwp.2 + 10 1384 c.1182C>T c.(1180-1182)tcC>tcT p.S394S LARP4_uc001rwq.2_Silent_p.S323S|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Silent_p.S393S|LARP4_uc001rwr.2_Intron|LARP4_uc021qxv.1_Silent_p.S324S|LARP4_uc009zlr.1_Silent_p.S213S|LARP4_uc001rwm.3_Silent_p.S394S|LARP4_uc001rwn.3_Silent_p.S324S NM_052879 NP_443111 Q71RC2 LARP4_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA. 394 RNA binding|nucleotide binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GCTCTGTATCCTTGGGGGATG 0.433000 81 52 0 0 0.003610 0 0 LRRK1 79705 broad.mit.edu 37 15 101523787 101523787 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:101523787C>T uc002bwr.3 + 3 635 c.316C>T c.(316-318)Cta>Tta p.L106L LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Silent_p.L106L NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 106 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGTCCGCTACCTACTCAGCAA 0.577000 41 73 0 0 0.003610 0 0 GAPVD1 26130 broad.mit.edu 37 9 128088795 128088795 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:128088795G>A uc004bpp.3 + 9 2119 c.1959G>A c.(1957-1959)gaG>gaA p.E653E GAPVD1_uc011lzs.1_Silent_p.E653E|GAPVD1_uc004bpq.3_Silent_p.E653E|GAPVD1_uc010mwx.3_Silent_p.E653E|GAPVD1_uc004bpr.3_Silent_p.E632E|GAPVD1_uc004bps.3_Silent_p.E653E|GAPVD1_uc010mwy.1_Silent_p.E512E NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 653 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAGTGAGTGAGACCTGGAGTA 0.398000 12 40 0 0 0.006230 0 0 EPHB3 2049 broad.mit.edu 37 3 184299085 184299085 + Missense_Mutation SNP C T T rs143430250 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:184299085C>T uc003foz.3 + 14 3214 c.2777C>T c.(2776-2778)aCc>aTc p.T926I NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 926 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GATTACACAACCTTCACGACA 0.562000 48 49 0 0 0.003610 0 0 SH3GL2 6456 broad.mit.edu 37 9 17747095 17747095 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:17747095G>A uc003zna.3 + 1 365 c.77G>A c.(76-78)gGa>gAa p.G26E SH3GL2_uc011lmx.1_5'UTR|SH3GL2_uc011lmy.2_5'UTR NM_003026 NP_003017 Q99962 SH3G2_HUMAN Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA. 26 BAR.|Binds and tubulates liposomes (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport Golgi membrane|cytosol|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GGAGCTGAAGGAACCAAGCTA 0.358000 3 14 0 0 0.004007 0 0 CA12 771 broad.mit.edu 37 15 63631051 63631051 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:63631051C>T uc002amc.3 - 7 997 c.841G>A c.(841-843)Gat>Aat p.D281N CA12_uc002amd.3_Missense_Mutation_p.D281N|CA12_uc002ame.3_Missense_Mutation_p.D221N NM_001218 NP_001209 O43570 CAH12_HUMAN Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA. 281 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) AGCCTCTCATCGAACTTCTGG 0.577000 39 16 0 0 0.006122 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37482150 37482150 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:37482150G>A uc021ppc.1 + 26 2509 c.2410G>A c.(2410-2412)Gcc>Acc p.A804T ANKRD30A_uc001iza.1_Missense_Mutation_p.A804T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 860 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A804A(2) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TCCAACTAAAGCCTTAGAATT 0.274000 7 29 0 0 0.002836 0 0 BCL2L15 440603 broad.mit.edu 37 1 114424487 114424487 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:114424487G>A uc001edw.3 - 2 554 c.382C>T c.(382-384)Cct>Tct p.P128S LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Intron|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Non-coding_Transcript NM_001010922 NP_001010922 Q5TBC7 B2L15_HUMAN Homo sapiens BCL2-like 15 (BCL2L15), mRNA. 128 apoptosis breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1) 9 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTACTTCAGGAGCAATGTGA 0.512000 20 15 0 0 0.006122 0 0 MKRN2 23609 broad.mit.edu 37 3 12610448 12610448 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:12610448C>T uc003bxd.3 + 1 157 c.101C>T c.(100-102)tCc>tTc p.S34F MKRN2_uc011aus.2_Intron NM_014160 NP_054879 Q9H000 MKRN2_HUMAN Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA. 34 intracellular ligase activity|nucleic acid binding|zinc ion binding p.P33P(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 AGCAAACCGTCCACCATCTGC 0.488000 32 20 0 0 0.002299 0 0 IL2RA 3559 broad.mit.edu 37 10 6061880 6061880 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:6061880G>A uc001iiz.2 - 4 827 c.608C>T c.(607-609)cCc>cTc p.P203L IL2RA_uc009xih.2_Missense_Mutation_p.P131L|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA. 203 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACGGCCTTCGGGGCTTGCCTG 0.602000 41 19 0 0 0.007413 0 0 GYPE 2996 broad.mit.edu 37 4 144801625 144801625 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:144801625C>T uc003ijj.3 - 1 131 c.75G>A c.(73-75)gtG>gtA p.V25V GYPE_uc003ijk.4_Silent_p.V25V NM_198682 NP_941391 P15421 GLPE_HUMAN Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA. 25 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) TGTGCATTGCCACACCAGTGG 0.383000 118 16 0 0 0.006122 0 0 CADPS 8618 broad.mit.edu 37 3 62543093 62543093 + Silent SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:62543093G>T uc003dll.2 - 9 2100 c.1740C>A c.(1738-1740)acC>acA p.T580T CADPS_uc003dlk.1_Silent_p.T84T|CADPS_uc003dlm.2_Silent_p.T580T|CADPS_uc003dln.2_Silent_p.T580T|CADPS_uc021wzv.1_Silent_p.T580T NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA. 580 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GCTGGGGGTCGGTGTAATCCA 0.517000 59 67 2.60599e-31 2.92926e-31 0.003610 1 0 MUC16 94025 broad.mit.edu 37 19 9007535 9007535 + Missense_Mutation SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9007535C>G uc002mkp.3 - 42 39637 c.39433G>C c.(39433-39435)Gtt>Ctt p.V13145L MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13147 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 CCAAGGTCAACTGTGGAAGTC 0.527000 27 8 0 0 0.003080 0 0 PLCB2 5330 broad.mit.edu 37 15 40599844 40599844 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:40599844G>A uc001zld.3 - 0 331 c.30C>T c.(28-30)ccC>ccT p.P10P PLCB2_uc010bbo.3_Silent_p.P10P|PLCB2_uc010ucm.2_Silent_p.P10P|PLCB2_uc001zle.4_Silent_p.P10P NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 10 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCACCTTGGGGGGCAGCAGGA 0.607000 26 19 0 0 0.002299 0 0 CADM2 253559 broad.mit.edu 37 3 85935391 85935391 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:85935391G>A uc003dql.3 + 3 422 c.422G>A c.(421-423)gGt>gAt p.G141D CADM2_uc003dqj.3_Missense_Mutation_p.G139D|CADM2_uc003dqk.3_Missense_Mutation_p.G148D|CADM2_uc003dqm.2_Missense_Mutation_p.G31D|CADM2_uc021xay.1_Missense_Mutation_p.G31D|CADM2_uc021xaz.1_Missense_Mutation_p.G31D|CADM2_uc021xba.1_Missense_Mutation_p.G31D NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 139 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTTATGGAGGGTGACTTGATG 0.383000 29 10 0 0 0.008291 0 0 PTH2R 5746 broad.mit.edu 37 2 209358274 209358274 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:209358274G>A uc010zjb.2 + 12 1862 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K PTH2R_uc002vdb.3_Missense_Mutation_p.E515K|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA. 515 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GGAGACCAAGGAAGATAGTGG 0.522000 26 26 0 0 0.004656 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44806175 44806175 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:44806175G>A uc003tlr.3 + 17 2691 c.2568G>A c.(2566-2568)acG>acA p.T856T ZMIZ2_uc003tlq.3_Silent_p.T798T|ZMIZ2_uc003tls.3_Silent_p.T830T|ZMIZ2_uc003tlt.3_Silent_p.T479T|ZMIZ2_uc010kyj.3_Silent_p.T378T|ZMIZ2_uc003tlu.3_Silent_p.T137T|ZMIZ2_uc010kyk.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 856 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.T856T(2) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGGACCTACGGGTGAACTGG 0.662000 50 42 0 0 0.002222 0 0 CILP 8483 broad.mit.edu 37 15 65499223 65499223 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:65499223C>T uc002aon.2 - 3 502 c.321G>A c.(319-321)caG>caA p.Q107Q NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 107 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CATGGACCACCTGGCCAGTGC 0.622000 12 18 0 0 0.006122 0 0 C7orf58 79974 broad.mit.edu 37 7 120911467 120911467 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:120911467G>A uc003vjq.4 + 21 3298 c.2851G>A c.(2851-2853)Gga>Aga p.G951R NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 951 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) GGGGAAGTGTGGATGTCATTT 0.333000 34 57 0 0 0.003610 0 0 CHD2 1106 broad.mit.edu 37 15 93567671 93567672 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:93567671_93567672CC>TT uc002bsp.3 + 38 5798_5799 c.5223_5224CC>TT c.(5221-5226)ttccga>ttTTga p.R1742* NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 1742 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGCAGGATTTCCGACGAATGTC 0.495000 29 25 0 0 0.004672 0 0 LAMB4 22798 broad.mit.edu 37 7 107704409 107704409 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:107704409G>A uc010ljo.1 - 21 2942 c.2858C>T c.(2857-2859)tCt>tTt p.S953F LAMB4_uc003vey.2_Missense_Mutation_p.S953F|LAMB4_uc010ljp.1_5'UTR NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 953 Laminin EGF-like 9. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GAAACCAGTAGAGCATTCTCC 0.473000 75 31 0 0 0.002096 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962071 73962071 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:73962071G>A uc004eby.3 - 2 2938 c.2321C>T c.(2320-2322)tCt>tTt p.S774F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 774 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATGAAATTCAGATAGACGGGA 0.388000 53 34 0 0 0.002096 0 0 KALRN 8997 broad.mit.edu 37 3 124414982 124414982 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:124414982G>A uc003ehg.3 + 54 7705 c.7578_splice c.e54-1 p.C2526_splice KALRN_uc003ehk.3_Splice_Site_p.C829_splice NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2525 Ig-like C2-type. 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 TGTCCCTAGTGATTCTGGAGA 0.483000 112 45 0 0 0.003610 0 0 SYBU 55638 broad.mit.edu 37 8 110655095 110655095 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:110655095G>A uc010mcp.3 - 2 453 c.91C>T c.(91-93)Cgg>Tgg p.R31W SYBU_uc003yni.4_Missense_Mutation_p.R28W|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Missense_Mutation_p.R31W|SYBU_uc010mco.3_Missense_Mutation_p.R30W|SYBU_uc003ynl.4_Missense_Mutation_p.R30W|SYBU_uc010mcq.3_Missense_Mutation_p.R31W|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Missense_Mutation_p.R31W|SYBU_uc003ynm.4_Missense_Mutation_p.R30W|SYBU_uc003ynn.4_Missense_Mutation_p.R30W|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Missense_Mutation_p.R31W|SYBU_uc010mcu.3_Missense_Mutation_p.R30W|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Missense_Mutation_p.R31W|AX748380_uc003ynq.1_5'Flank NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 31 Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 ATATGGGGCCGAAGAATCAAC 0.502000 80 32 0 0 0.002445 0 0 OR8K3 219473 broad.mit.edu 37 11 56086329 56086329 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56086329C>T uc010rjf.2 + 0 547 c.547C>T c.(547-549)Cct>Tct p.P183S NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TGACAGTCTCCCTTTGTTACC 0.333000 79 38 0 0 0.004289 0 0 COL17A1 1308 broad.mit.edu 37 10 105810657 105810657 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:105810657G>A uc001kxr.3 - 25 2210 c.2041C>T c.(2041-2043)Cct>Tct p.P681S MIR936_uc021pxp.1_5'Flank NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 681 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGACCTACAGGACCTGCCCGG 0.532000 8 26 0 0 0.005443 0 0 BZRAP1 9256 broad.mit.edu 37 17 56393446 56393447 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56393446_56393447GG>AA uc002ivx.4 - 15 2906_2907 c.2035_2036CC>TT c.(2035-2037)ccg>TTg p.P679L BZRAP1_uc010dcs.3_Missense_Mutation_p.P619L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P679L NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 679 SH3 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCTGTCAGCGGAAGCTCTGCT 0.520000 85 55 0 0 0.004672 0 0 OR2T2 401992 broad.mit.edu 37 1 248616137 248616137 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248616137C>T uc001iek.1 + 0 39 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F13V(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCACTAACTTCGTCCTCACAG 0.507000 216 33 0 0 0.003610 0 0 TMEM130 222865 broad.mit.edu 37 7 98457947 98457947 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:98457947C>T uc003upo.3 - 2 595 c.406G>A c.(406-408)Gac>Aac p.D136N TMEM130_uc011kiq.2_Missense_Mutation_p.D117N|TMEM130_uc011kir.2_Missense_Mutation_p.D136N|TMEM130_uc003upn.3_Missense_Mutation_p.D34N NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA. 136 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACAACAAGGTCCCCCACGAGG 0.552000 19 29 0 0 0.003271 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21427461 21427461 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:21427461C>T uc001rer.3 - 12 1986 c.1735G>A c.(1735-1737)Gga>Aga p.G579R SLCO1A2_uc010siq.2_Missense_Mutation_p.G447R|SLCO1A2_uc001res.3_Missense_Mutation_p.G579R|SLCO1A2_uc010sio.2_Missense_Mutation_p.G447R|SLCO1A2_uc010sip.2_Missense_Mutation_p.G447R NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 579 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCAAAGTTCCCCAGTGTAAA 0.358000 51 34 0 0 0.002836 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55038833 55038833 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:55038833G>A uc003dhf.3 + 31 2782 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K CACNA2D3_uc003dhg.1_Missense_Mutation_p.E818K|CACNA2D3_uc003dhh.1_Non-coding_Transcript NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 912 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGCCAACAAGGAAAGCAGCGA 0.458000 60 11 0 0 0.000978 0 0 CSMD3 114788 broad.mit.edu 37 8 113318249 113318250 + Missense_Mutation DNP GG AT AT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:113318249_113318250GG>AT uc003ynu.3 - 50 8216_8217 c.8057_8058CC>AT c.(8056-8058)acc>aAT p.T2686N CSMD3_uc003yns.3_Missense_Mutation_p.T1888N|CSMD3_uc003ynt.3_Missense_Mutation_p.T2646N|CSMD3_uc011lhx.2_Missense_Mutation_p.T2582N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2686 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CACAGCGAGGGGTCTTGTTATG 0.347000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 54 0 0 0.004672 0 0 ENO3 2027 broad.mit.edu 37 17 4859299 4859299 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:4859299G>A uc010vst.2 + 3 618 c.436G>A c.(436-438)Ggg>Agg p.G146R ENO3_uc002gab.4_Missense_Mutation_p.G310R|ENO3_uc002gac.4_Missense_Mutation_p.G310R|ENO3_uc010vss.2_Missense_Mutation_p.G267R NM_001193503 NP_001180432 P13929 ENOB_HUMAN Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA. 310 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 CTTCCTCTCGGGGGTGAACAT 0.572000 40 61 0 0 0.003610 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101748841 101748841 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:101748841C>T uc003knn.3 - 8 1651 c.1479G>A c.(1477-1479)ggG>ggA p.G493G SLCO6A1_uc003kno.3_Silent_p.G240G|SLCO6A1_uc003knp.3_Silent_p.G493G|SLCO6A1_uc003knq.3_Silent_p.G431G NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 493 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTCCCAACTTCCCTGTTCTGT 0.308000 14 12 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82784725 82784726 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:82784725_82784726GG>AA uc003uhx.2 - 1 1520_1521 c.1231_1232CC>TT c.(1231-1233)cca>TTa p.P411L PCLO_uc003uhv.2_Missense_Mutation_p.P411L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 362 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGCTGGGTTGGAGGCTTTGCT 0.579000 64 97 0 0 0.004672 0 0 HAS1 3036 broad.mit.edu 37 19 52222589 52222590 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:52222589_52222590GG>AA uc002pxn.1 - 0 605_606 c.592_593CC>TT c.(592-594)cct>TTt p.P198F HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.P156F|HAS1_uc002pxo.1_Missense_Mutation_p.P191F|HAS1_uc002pxp.1_Missense_Mutation_p.P190F NM_001523 NP_001514 Q92839 HAS1_HUMAN Homo sapiens hyaluronan synthase 1 (HAS1), mRNA. 191 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding p.A198E(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CAGCCGCCCAGGATCCTCCGCC 0.718000 13 4 0 0 0.004672 0 0 FAM83B 222584 broad.mit.edu 37 6 54806270 54806270 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:54806270C>T uc003pck.3 + 4 2617 c.2501C>T c.(2500-2502)tCc>tTc p.S834F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 834 Poly-Ser. autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGCATTCTTCCTCATCGAAT 0.378000 31 7 0 0 0.001984 0 0 CMIP 80790 broad.mit.edu 37 16 81730266 81730266 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:81730266C>T uc002fgp.3 + 13 1704 c.1632C>T c.(1630-1632)gcC>gcT p.A544A CMIP_uc002fgq.2_Silent_p.A450A|CMIP_uc010vnq.2_Silent_p.A357A|CMIP_uc002fgr.2_Silent_p.A391A|CMIP_uc010vnr.1_Silent_p.A110A NM_198390 NP_938204 Q8IY22 CMIP_HUMAN Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA. 510 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 AGCTGTTCGCCAGCATGGTAC 0.657000 15 25 0 0 0.006320 0 0 HCN4 10021 broad.mit.edu 37 15 73621928 73621928 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:73621928G>A uc002avp.3 - 3 2570 c.1576C>T c.(1576-1578)Cag>Tag p.Q526* NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 526 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity p.R525H(2)|p.R525C(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TCCTGGTACTGGCGCCGGGAG 0.642000 12 29 0 0 0.002096 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626859 108626859 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:108626859G>A uc002tdv.3 + 8 1561 c.1285G>A c.(1285-1287)Gga>Aga p.G429R SLC5A7_uc010ywm.2_Missense_Mutation_p.G182R|SLC5A7_uc010fjj.3_Missense_Mutation_p.G429R|SLC5A7_uc010ywn.2_Missense_Mutation_p.G316R NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 429 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CTTTGTTAAGGGAACCAACAC 0.488000 49 15 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9076829 9076829 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9076829G>A uc002mkp.3 - 2 10821 c.10617C>T c.(10615-10617)tcC>tcT p.S3539S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3540 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGGTGGTGGAGATACCTG 0.542000 118 47 0 0 0.003610 0 0 DDX20 11218 broad.mit.edu 37 1 112308368 112308368 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:112308368C>T uc001ebs.3 + 10 1679 c.1322C>T c.(1321-1323)cCt>cTt p.P441L DDX20_uc010owf.2_Missense_Mutation_p.P203L|DDX20_uc001ebt.3_Missense_Mutation_p.P49L NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA. 441 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCCCATTCCTTCTGGTCTG 0.353000 87 37 0 0 0.005524 0 0 ACSM5 54988 broad.mit.edu 37 16 20422911 20422911 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:20422911C>T uc002dhe.3 + 1 252 c.105C>T c.(103-105)atC>atT p.I35I ACSM5_uc002dhd.1_Silent_p.I35I NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 35 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTCAGAAGATCGTGGCCACCT 0.582000 29 20 0 0 0.001523 0 0 GNGT2 2793 broad.mit.edu 37 17 47284745 47284745 + Missense_Mutation SNP C T T rs144009787 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:47284745C>T uc002ioo.2 - 2 347 c.40G>A c.(40-42)Gag>Aag p.E14K GNGT2_uc021tzo.1_Missense_Mutation_p.E14K|GNGT2_uc021tzp.1_Missense_Mutation_p.E14K|GNGT2_uc021tzq.1_Missense_Mutation_p.E14K|ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank NM_031498 NP_113686 O14610 GBGT2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA. 14 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TGCTCCACCTCCATCTTCAAC 0.542000 142 32 0 0 0.008361 0 0 ATXN1 6310 broad.mit.edu 37 6 16327065 16327065 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:16327065G>A uc003nbt.3 - 7 2448 c.1477C>T c.(1477-1479)Ccg>Tcg p.P493S ATXN1_uc010jpi.3_Missense_Mutation_p.P493S|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 493 RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CTGCCGACCGGGATGAGCAGG 0.667000 123 92 0 0 0.003610 0 0 UROC1 131669 broad.mit.edu 37 3 126224622 126224622 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:126224622G>A uc010hsi.2 - 7 789 c.735C>T c.(733-735)gtC>gtT p.V245V UROC1_uc003eiz.2_Silent_p.V245V NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 245 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GCCCAGAGGTGACAAAGACCT 0.632000 32 17 0 0 0.007413 0 0 LAMA5 3911 broad.mit.edu 37 20 60921188 60921188 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:60921188C>T uc002ycq.3 - 9 1433 c.1366G>A c.(1366-1368)Gag>Aag p.E456K LAMA5_uc021wfw.1_Missense_Mutation_p.E456K NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 456 Laminin EGF-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACACCGCTCCCCAGAGAAG 0.647000 34 7 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179647604 179647604 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179647604C>T uc021vsy.1 - 17 3254 c.3029G>A c.(3028-3030)aGc>aAc p.S1010N TTN_uc021vsz.1_Missense_Mutation_p.S964N|TTN_uc021vta.1_Missense_Mutation_p.S964N|TTN_uc021vtb.1_Missense_Mutation_p.S964N|TTN_uc002unb.2_Missense_Mutation_p.S1010N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1010 Ig-like 3. 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) AAATCGCCCGCTGTCTTCCGC 0.498000 27 29 0 0 0.008361 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453137 + Missense_Mutation DNP AC TT TT rs121913377 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:140453136_140453137AC>TT uc003vwc.4 - 14 1859_1860 c.1798_1799GT>AA c.(1798-1800)gtg>AAg p.V600K NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAGA 0.366000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 47 0 0 0.004672 0 0 GOLGA8A 23015 broad.mit.edu 37 15 34673702 34673702 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:34673702C>T uc001zii.3 - 15 1831 c.1722G>A c.(1720-1722)gaG>gaA p.E574E GOLGA8A_uc001zih.3_Silent_p.E430E|DQ593032_uc001zil.3_5'Flank NM_181077 NP_851422 A7E2F4 GOG8A_HUMAN Homo sapiens golgin A8 family, member A (GOLGA8A), transcript variant 1, mRNA. 602 Golgi-targeting domain (By similarity). Golgi cisterna membrane all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GGTCCTGCATCTCACCAAGGA 0.592000 51 12 0 0 0.000978 0 0 CACNA1I 8911 broad.mit.edu 37 22 40064311 40064311 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:40064311C>T uc003ayc.3 + 23 4119 c.4119C>T c.(4117-4119)ctC>ctT p.L1373L CACNA1I_uc003ayd.3_Silent_p.L1338L|CACNA1I_uc003aye.3_Silent_p.L1288L|CACNA1I_uc003ayf.3_Silent_p.L1253L NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1373 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGATGTCCCTCTTTGTCCTGG 0.572000 25 18 0 0 0.001882 0 0 FAM47C 442444 broad.mit.edu 37 X 37027408 37027408 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:37027408G>A uc004ddl.2 + 0 977 c.925G>A c.(925-927)Gag>Aag p.E309K NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 309 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCTGCCTGGAGCCTCCCAA 0.592000 25 25 0 0 0.004656 0 0 PKDCC 91461 broad.mit.edu 37 2 42284396 42284396 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:42284396G>A uc002rsg.3 + 5 1437 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA. 420 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 CATCCCCCAGGAAGACTACCG 0.557000 54 63 0 0 0.003610 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475519 140475519 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140475519G>A uc003lil.3 + 0 1283 c.1145G>A c.(1144-1146)aGg>aAg p.R382K PCDHB2_uc003lim.1_Missense_Mutation_p.R43K NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 382 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.G381R(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACAACGGAAGGATGGTGTGC 0.473000 31 7 0 0 0.001984 0 0 BTBD9 114781 broad.mit.edu 37 6 38560427 38560427 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:38560427G>A uc003ooa.4 - 4 1315 c.739C>T c.(739-741)Cct>Tct p.P247S BTBD9_uc010jwv.3_Missense_Mutation_p.P188S|BTBD9_uc003ony.4_Missense_Mutation_p.P179S|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.P247S NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 247 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 ATGGCATCAGGAGACAGCAGT 0.478000 66 12 0 0 0.001855 0 0 REN 5972 broad.mit.edu 37 1 204129781 204129781 + Silent SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:204129781C>G uc001haq.2 - 3 443 c.399G>C c.(397-399)tcG>tcC p.S133S NM_000537 NP_000528 P00797 RENI_HUMAN Homo sapiens renin (REN), mRNA. 133 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TGGAGGAATCCGAAGCATCGA 0.542000 69 22 0 0 0.005443 0 0 OR14C36 127066 broad.mit.edu 37 1 248512703 248512703 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248512703C>T uc010pzl.2 + 0 627 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GCGGCTGTTTCATCTTTATCA 0.502000 92 43 0 0 0.003214 0 0 NXF3 56000 broad.mit.edu 37 X 102339395 102339395 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:102339395G>A uc004eju.3 - 2 297 c.226C>T c.(226-228)Cgg>Tgg p.R76W NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.R76W|NXF3_uc011mrx.1_5'UTR NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 76 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTGCCTTTCCGATTATAGGGT 0.433000 39 22 0 0 0.003954 0 0 A2M 2 broad.mit.edu 37 12 9248254 9248254 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9248254C>T uc001qvk.1 - 15 2007 c.1894G>A c.(1894-1896)Ggg>Agg p.G632R A2M_uc009zgk.1_Missense_Mutation_p.G482R NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 632 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTCAAAGGCCCAGGGAAGCCA 0.358000 59 54 0 0 0.003610 0 0 PRLR 5618 broad.mit.edu 37 5 35084649 35084649 + Missense_Mutation SNP T G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35084649T>G uc003jjm.3 - 4 855 c.296A>C c.(295-297)tAc>tCc p.Y99S PRLR_uc003jjk.1_Missense_Mutation_p.Y28S|PRLR_uc003jjg.2_Missense_Mutation_p.Y99S|PRLR_uc003jjh.2_Missense_Mutation_p.Y99S|PRLR_uc003jji.2_Missense_Mutation_p.Y28S|PRLR_uc003jjj.2_Missense_Mutation_p.Y99S|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Missense_Mutation_p.Y99S|PRLR_uc010iuw.1_Missense_Mutation_p.Y28S NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 99 Fibronectin type-III 1. T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CATCATGATGTATGTCCTCCA 0.483000 63 72 0 0 0.003610 0 0 OR2T2 401992 broad.mit.edu 37 1 248616302 248616302 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248616302C>T uc001iek.1 + 0 204 c.204C>T c.(202-204)tcC>tcT p.S68S NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L67L(1)|p.S68F(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAGCTCTCCATCATGGATA 0.512000 154 56 0 0 0.003610 0 0 IMPG1 3617 broad.mit.edu 37 6 76712689 76712689 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:76712689G>A uc003pik.1 - 11 1367 c.1237C>T c.(1237-1239)Cct>Tct p.P413S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 413 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCAACAGGAGGAAGTTCTGGA 0.423000 31 24 0 0 0.005443 0 0 CCDC141 285025 broad.mit.edu 37 2 179720119 179720119 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179720119C>T uc002une.2 - 18 3133 c.3015G>A c.(3013-3015)aaG>aaA p.K1005K CCDC141_uc002unf.1_Silent_p.K484K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 430 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCAAATTCTTCTTGTAATCTG 0.343000 32 23 0 0 0.003954 0 0 ATG5 9474 broad.mit.edu 37 6 106740973 106740973 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:106740973G>A uc003prf.3 - 3 598 c.245C>T c.(244-246)cCa>cTa p.P82L ATG5_uc010kdb.3_Missense_Mutation_p.P82L|ATG5_uc003prg.3_Missense_Mutation_p.P4L|ATG5_uc010kdc.3_Intron NM_004849 NP_004840 Q9H1Y0 ATG5_HUMAN Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA. 82 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) CAAACCAATTGGATAATGCCT 0.303000 12 42 0 0 0.003610 0 0 RSPO2 340419 broad.mit.edu 37 8 109001367 109001367 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:109001367C>T uc003yms.3 - 2 858 c.200G>A c.(199-201)gGg>gAg p.G67E RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN Homo sapiens R-spondin 2 (RSPO2), mRNA. 67 Wnt receptor signaling pathway extracellular region heparin binding p.G67W(2) EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CTGGCGCATCCCTTCTCTTCG 0.473000 49 25 0 0 0.003330 0 0 EHMT2 10919 broad.mit.edu 37 6 31855893 31855893 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:31855893G>A uc003nxz.1 - 12 1680 c.1670C>T c.(1669-1671)cCg>cTg p.P557L EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P348L|EHMT2_uc011don.1_Missense_Mutation_p.P580L|EHMT2_uc003nya.1_Missense_Mutation_p.P523L NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA. 557 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 AGTGCCGGCCGGTGGGGTCAC 0.642000 149 131 0 0 0.003610 0 0 PTPN14 5784 broad.mit.edu 37 1 214567112 214567112 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:214567112G>A uc001hkk.2 - 9 1508 c.855C>T c.(853-855)atC>atT p.I285I PTPN14_uc021piy.1_Silent_p.I49I|PTPN14_uc010pty.2_Silent_p.I186I NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 285 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGCATTTTCGATATCATCCT 0.353000 19 24 0 0 0.004656 0 0 ZNF770 54989 broad.mit.edu 37 15 35274609 35274609 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:35274609G>A uc001ziw.3 - 2 1381 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F ZNF770_uc021siy.1_Missense_Mutation_p.L343F NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN Homo sapiens zinc finger protein 770 (ZNF770), mRNA. 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) GCACGCTTAAGCTTGGCCAAG 0.333000 8 4 0 0 0.000602 0 0 TRPV2 51393 broad.mit.edu 37 17 16330068 16330068 + Silent SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:16330068G>T uc002gpy.3 + 6 1527 c.1128G>T c.(1126-1128)ctG>ctT p.L376L TRPV2_uc002gpz.3_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA. 376 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGGAGCCCCTGAACAAACTGC 0.517000 27 25 3.28513e-13 3.65683e-13 0.003954 1 0 TTC27 55622 broad.mit.edu 37 2 32875264 32875264 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:32875264C>T uc002rom.3 + 4 877 c.604C>T c.(604-606)Ctg>Ttg p.L202L TTC27_uc010ymx.2_Silent_p.L152L NM_017735 NP_001180438 Q6P3X3 TTC27_HUMAN Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA. 202 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ACGCTCACCTCTGCTTTTTAC 0.398000 78 27 0 0 0.006320 0 0 MYH7B 57644 broad.mit.edu 37 20 33581950 33581950 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:33581950G>A uc002xbi.2 + 27 2888 c.2571_splice c.e27-1 p.R857_splice NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 815 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCTCCCTAGGGATGCGCTGTT 0.552000 78 71 0 0 0.003610 0 0 MYO19 80179 broad.mit.edu 37 17 34866603 34866603 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:34866603G>A uc010wcy.2 - 13 2131 c.1139C>T c.(1138-1140)gCc>gTc p.A380V MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.A380V|MYO19_uc010wcz.1_Non-coding_Transcript NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA. 380 Myosin head-like. mitochondrial outer membrane|myosin complex ATP binding|actin binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GATCAGTTTGGCCAGGCAGTC 0.607000 4 10 0 0 0.006214 0 0 PEX12 5193 broad.mit.edu 37 17 33904921 33904921 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:33904921C>T uc002hjp.3 - 0 736 c.120G>A c.(118-120)gtG>gtA p.V40V NM_000286 NP_000277 O00623 PEX12_HUMAN Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. 40 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTACCTTGACCACATGCTGAA 0.438000 34 40 0 0 0.003610 0 0 CLIP4 79745 broad.mit.edu 37 2 29356623 29356623 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:29356623C>T uc002rmv.3 + 4 709 c.470C>T c.(469-471)gCt>gTt p.A157V CLIP4_uc002rmu.3_Missense_Mutation_p.A157V|CLIP4_uc010ezm.1_Missense_Mutation_p.A157V|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.A139V NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA. 157 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TTGCATTATGCTGCTTATTTT 0.368000 27 13 0 0 0.001855 0 0 CACNA1I 8911 broad.mit.edu 37 22 40045903 40045903 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:40045903C>T uc003ayc.3 + 9 1965 c.1965C>T c.(1963-1965)gtC>gtT p.V655V CACNA1I_uc003ayd.3_Silent_p.V620V|CACNA1I_uc003aye.3_Silent_p.V570V|CACNA1I_uc003ayf.3_Silent_p.V535V NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 655 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCAACACCGTCAGCATGGGCA 0.687000 43 21 0 0 0.006320 0 0 ISLR2 57611 broad.mit.edu 37 15 74425088 74425088 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:74425088G>A uc002axd.3 + 4 762 c.-7_splice c.e4-1 ISLR2_uc002axe.3_Splice_Site|ISLR2_uc010bjg.3_Splice_Site|ISLR2_uc010bjf.3_Splice_Site|ISLR2_uc021sqe.1_5'Flank NM_001130136 NP_065902 Q6UXK2 ISLR2_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA. positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CCATCTGCAGGAGCCGCGATG 0.607000 16 10 0 0 0.008291 0 0 IL1F10 84639 broad.mit.edu 37 2 113832373 113832373 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 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 48 15 0 0 0.003163 0 0 PAPPA 5069 broad.mit.edu 37 9 118974126 118974126 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:118974126C>T uc004bjn.3 + 3 2214 c.1833C>T c.(1831-1833)tcC>tcT p.S611S PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 611 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AACACAAGTCCTGTGGTGACC 0.527000 29 107 0 0 0.003610 0 0 IL10RA 3587 broad.mit.edu 37 11 117869953 117869953 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:117869953G>A uc001prv.3 + 6 1411 c.1334G>A c.(1333-1335)gGt>gAt p.G445D IL10RA_uc010rxl.2_Missense_Mutation_p.G425D|IL10RA_uc010rxm.2_Missense_Mutation_p.G425D|IL10RA_uc010rxn.2_Missense_Mutation_p.G296D|IL10RA_uc001prw.3_Missense_Mutation_p.G296D NM_001558 NP_001549 Q13651 I10R1_HUMAN Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA. 445 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GCATTCCAGGGTTACCTGAGG 0.627000 16 31 0 0 0.001786 0 0 RCBTB2 1102 broad.mit.edu 37 13 49086897 49086897 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:49086897A>G uc010tgg.2 - 5 790 c.499T>C c.(499-501)Tac>Cac p.Y167H RCBTB2_uc001vci.3_Missense_Mutation_p.Y138H|RCBTB2_uc010tgh.2_Intron|RCBTB2_uc001vch.3_Missense_Mutation_p.Y162H|RCBTB2_uc001vcj.3_Missense_Mutation_p.Y166H|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.Y138H NM_001268 NP_001259 O95199 RCBT2_HUMAN Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA. 162 Ran guanyl-nucleotide exchange factor activity p.L167L(1) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) AAAGAATGGTAAGACCCACAG 0.398000 47 31 0 0 0.002836 0 0 TMEM169 92691 broad.mit.edu 37 2 216964891 216964891 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:216964891C>T uc010zjr.2 + 3 846 c.520C>T c.(520-522)Ctt>Ttt p.L174F TMEM169_uc010zjs.2_Missense_Mutation_p.L174F|TMEM169_uc002vfw.3_Missense_Mutation_p.L174F|TMEM169_uc002vfv.4_Missense_Mutation_p.L174F NM_001142310 NP_612399 Q96HH4 TM169_HUMAN Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA. 174 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTTTTCATCCTTTCTTTTGT 0.512000 62 51 0 0 0.003610 0 0 FAM193A 8603 broad.mit.edu 37 4 2701659 2701659 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:2701659C>T uc010ick.3 + 17 3488 c.3487C>T c.(3487-3489)Cct>Tct p.P1163S FAM193A_uc003gfd.3_Missense_Mutation_p.P963S|FAM193A_uc011bvm.2_Missense_Mutation_p.P985S|FAM193A_uc011bvn.2_Missense_Mutation_p.P963S|FAM193A_uc010icl.3_Missense_Mutation_p.P963S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P817S NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 963 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AGAGTCTGTTCCTAACTCTGG 0.473000 54 31 0 0 0.001786 0 0 RGPD4 285190 broad.mit.edu 37 2 108487252 108487252 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:108487252G>A uc010ywk.2 + 19 2874 c.2792G>A c.(2791-2793)gGa>gAa p.G931E RGPD4_uc002tdu.3_Missense_Mutation_p.G118E|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 931 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCGGAACCAGGAAATCAAGAA 0.408000 164 82 0 0 0.003610 0 0 SMC1A 8243 broad.mit.edu 37 X 53436194 53436194 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:53436194G>A uc004dsg.3 - 8 1413 c.1344C>T c.(1342-1344)tcC>tcT p.S448S SMC1A_uc011moe.2_Silent_p.S426S|SMC1A_uc011mof.2_Silent_p.S214S NM_006306 NP_006297 Q14683 SMC1A_HUMAN Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA. 448 DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 GCTCTTCTAGGGACTGCCTAC 0.542000 0 9 0 0 0.006214 0 0 COL16A1 1307 broad.mit.edu 37 1 32155398 32155398 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:32155398C>T uc001btk.1 - 22 1929 c.1564G>A c.(1564-1566)Gga>Aga p.G522R COL16A1_uc001btj.1_Missense_Mutation_p.G351R|COL16A1_uc001btl.4_Missense_Mutation_p.G522R NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 522 Triple-helical region 8 (COL8) with 1 imperfection. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCAGGAAGTCCAACAAAGTTC 0.597000 89 18 0 0 0.001882 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144863441 144863441 + Splice_Site SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:144863441G>A uc021ouh.1 - 37 6263 c.5961_splice c.e37-1 p.R1987_splice NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Splice_Site_p.R1987_splice|PDE4DIP_uc001elx.4_Splice_Site_p.R1881_splice|PDE4DIP_uc001elv.4_Splice_Site_p.R994_splice|PDE4DIP_uc001ema.3_3'UTR NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1987 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGTGCTGCAGTCTGACCAGG 0.527000 T PDGFRB MPD 224 57 0 0 0.003610 0 0 EEF2K 29904 broad.mit.edu 37 16 22262007 22262007 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:22262007C>T uc002dki.3 + 4 926 c.441C>T c.(439-441)ttC>ttT p.F147F EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 147 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GGGAGTGCTTCCGGACGTAAG 0.587000 36 26 0 0 0.005443 0 0 TCHH 7062 broad.mit.edu 37 1 152085190 152085190 + Missense_Mutation SNP C G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152085190C>G uc009wne.1 - 2 775 c.503G>C c.(502-504)cGc>cCc p.R168P TCHH_uc001ezp.2_Missense_Mutation_p.R168P NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 168 keratinization cytoskeleton calcium ion binding p.R168H(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCGTCGCGGCGCTGCCTGTC 0.587000 198 38 0 0 0.002522 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49654486 49654486 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:49654486G>A uc001jgu.3 - 9 2390 c.2093C>T c.(2092-2094)tCg>tTg p.S698L ARHGAP22_uc001jgs.3_Missense_Mutation_p.S592L|ARHGAP22_uc001jgt.3_Missense_Mutation_p.S682L|ARHGAP22_uc010qgl.2_Missense_Mutation_p.S639L|ARHGAP22_uc010qgm.2_Missense_Mutation_p.S688L|ARHGAP22_uc001jgv.3_Missense_Mutation_p.S380L|ARHGAP22_uc001jgr.3_Missense_Mutation_p.S399L NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 682 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity p.P697T(1) endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCTAGGGTCGAAAAAAACTC 0.542000 18 44 0 0 0.003610 0 0 HRNR 388697 broad.mit.edu 37 1 152190845 152190845 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152190845G>A uc001ezt.1 - 2 3336 c.3260C>T c.(3259-3261)tCg>tTg p.S1087L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1087 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCACAGCTCGATGACTGTCC 0.562000 268 167 0 0 0.003610 0 0 HSPH1 10808 broad.mit.edu 37 13 31722162 31722162 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:31722162C>T uc001utl.3 - 9 1589 c.1318G>A c.(1318-1320)Ggg>Agg p.G440R HSPH1_uc001utj.3_Missense_Mutation_p.G438R|HSPH1_uc001utk.3_Missense_Mutation_p.G438R|HSPH1_uc010aaw.3_Missense_Mutation_p.G397R|HSPH1_uc010tds.2_Missense_Mutation_p.G362R NM_006644 NP_006635 Q92598 HS105_HUMAN Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. 438 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TCAAAAGGCCCCCTTCTCAGA 0.398000 131 99 0 0 0.003610 0 0 ARGFX 503582 broad.mit.edu 37 3 121289648 121289648 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:121289648G>A uc003eef.3 + 1 183 c.88G>A c.(88-90)Gat>Aat p.D30N NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) ACCACCACAGGATCCAGCTAG 0.443000 34 26 0 0 0.005443 0 0 BEND2 139105 broad.mit.edu 37 X 18195771 18195771 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:18195771C>T uc004cyj.4 - 9 1702 c.1548G>A c.(1546-1548)aaG>aaA p.K516K BEND2_uc010nfb.2_Silent_p.K425K NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 516 BEN 1. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TCAGGATTTCCTTGGAGAACA 0.423000 20 202 0 0 0.003610 0 0 LRRK2 120892 broad.mit.edu 37 12 40689422 40689422 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:40689422G>A uc001rmg.4 + 22 3193 c.3072G>A c.(3070-3072)acG>acA p.T1024T LRRK2_uc001rmh.1_Silent_p.T646T|LRRK2_uc009zjw.3_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 1024 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.L1023P(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATGCACTCACGAGCTTTCCAC 0.343000 23 17 0 0 0.008871 0 0 OR5M9 390162 broad.mit.edu 37 11 56230507 56230507 + Missense_Mutation SNP C T T rs138157356 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56230507C>T uc010rjj.2 - 0 371 c.371G>A c.(370-372)gGc>gAc p.G124D OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G124C(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AGGGTTGCAGCCGGCCATGTA 0.493000 51 29 0 0 0.001786 0 0 MTRF1 9617 broad.mit.edu 37 13 41797453 41797453 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:41797453T>A uc010tff.2 - 9 1421 c.1202A>T c.(1201-1203)tAt>tTt p.Y401F MTRF1_uc001uxx.3_Missense_Mutation_p.Y388F|MTRF1_uc001uxy.3_Missense_Mutation_p.Y388F|MTRF1_uc001uxz.3_Missense_Mutation_p.Y224F|AK056182_uc001uxv.1_Intron O75570 RF1M_HUMAN Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA. 388 regulation of translational termination mitochondrion translation release factor activity, codon specific breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) GGTGAAATTATATGTCCGAAT 0.368000 132 49 0 0 0.003610 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809785 18809785 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:18809785C>T uc001bax.3 + 0 2362 c.2310C>T c.(2308-2310)ccC>ccT p.P770P KLHDC7A_uc009vpg.3_Intron NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 770 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) TGCCCACCCCCGATTTGCCTC 0.657000 80 18 0 0 0.008871 0 0 PROM2 150696 broad.mit.edu 37 2 95954256 95954257 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:95954256_95954257GG>AA uc002suk.3 + 21 2493_2494 c.2360_2361GG>AA c.(2359-2361)tgg>tAA p.W787* PROM2_uc002suh.2_Nonsense_Mutation_p.W787*|PROM2_uc002sui.3_Nonsense_Mutation_p.W787*|PROM2_uc002suj.3_Nonsense_Mutation_p.W441*|PROM2_uc002sul.3_Nonsense_Mutation_p.W313*|PROM2_uc002sum.3_Non-coding_Transcript NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 787 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TGCCTGGCATGGTGCACCTTCT 0.594000 54 19 0 0 0.004672 0 0 COL6A3 1293 broad.mit.edu 37 2 238267874 238267874 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:238267874C>T uc002vwl.2 - 18 6614 c.6329G>A c.(6328-6330)gGa>gAa p.G2110E COL6A3_uc002vwo.2_Missense_Mutation_p.G1904E|COL6A3_uc010znj.1_Missense_Mutation_p.G1503E NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2110 Collagen-like 2.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G2110A(2) 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) ACCATCCAGTCCAATTTCTCC 0.408000 29 39 0 0 0.005524 0 0 DNAH8 1769 broad.mit.edu 37 6 38906668 38906668 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:38906668G>A uc021yzh.1 + 78 12020 c.11911G>A c.(11911-11913)Gaa>Aaa p.E3971K DNAH8_uc003ooe.2_Missense_Mutation_p.E3754K|DNAH8_uc003oog.1_Missense_Mutation_p.E203K|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGCCTATACGAAAACCACAA 0.373000 42 10 0 0 0.000978 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111953096 111953096 + Splice_Site SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:111953096T>C uc010tjo.2 + 18 1941 c.1889_splice c.e18-1 p.S630_splice ARHGEF7_uc001vrv.4_Splice_Site_p.S555_splice|ARHGEF7_uc001vrw.4_Splice_Site_p.S555_splice|ARHGEF7_uc001vrx.4_Splice_Site_p.S555_splice NM_003899 NP_003890 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 1, mRNA. 733 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGATCCTAGGTTCACGCAAAG 0.338000 85 51 0 0 0.003610 0 0 PI4KA 5297 broad.mit.edu 37 22 21073016 21073016 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:21073016G>A uc002zsz.4 - 43 5298 c.5037C>T c.(5035-5037)ttC>ttT p.F1679F PI4KA_uc002zsy.4_Silent_p.F489F NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 1679 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCTTGTTAAAGAAATCAAACT 0.512000 53 38 0 0 0.006230 0 0 WIPI1 55062 broad.mit.edu 37 17 66447029 66447029 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:66447029G>A uc010dey.3 - 2 264 c.173C>T c.(172-174)cCg>cTg p.P58L WIPI1_uc010wqo.2_5'UTR NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA. 58 macroautophagy|vesicle targeting, trans-Golgi to endosome PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GTAGACGTCCGGGATTTCATC 0.557000 46 21 0 0 0.001523 0 0 STK24 8428 broad.mit.edu 37 13 99114116 99114116 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:99114116G>A uc001vnm.1 - 7 1236 c.1001C>T c.(1000-1002)tCt>tTt p.S334F STK24_uc001vnn.1_Missense_Mutation_p.S322F|STK24_uc010tim.1_Missense_Mutation_p.S303F NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA. 334 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCAGTCCCCAGAATCACTGCC 0.532000 63 51 0 0 0.003610 0 0 ZBBX 79740 broad.mit.edu 37 3 167031864 167031864 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:167031864C>T uc011bpc.2 - 15 1652 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K ZBBX_uc003feq.3_Missense_Mutation_p.E410K|ZBBX_uc003fep.3_Missense_Mutation_p.E439K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 439 intracellular zinc ion binding p.Y438F(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATGCCATTTTCATATGGAAAG 0.289000 51 25 0 0 0.003954 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138719414 138719414 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:138719414G>A uc004cgr.4 - 7 1062 c.1062C>T c.(1060-1062)caC>caT p.H354H CAMSAP1_uc004cgq.4_Silent_p.H244H|CAMSAP1_uc010nbg.3_Silent_p.H76H NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 354 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGCTCTTCTGGTGTAACACTG 0.527000 21 6 0 0 0.001168 0 0 LIMK2 3985 broad.mit.edu 37 22 31663806 31663806 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:31663806C>T uc003akh.3 + 9 1318 c.1173C>T c.(1171-1173)ttC>ttT p.F391F LIMK2_uc003aki.3_Silent_p.F145F|LIMK2_uc003akj.3_Silent_p.F370F|LIMK2_uc003akk.3_Silent_p.F370F|LIMK2_uc011aln.2_Silent_p.F308F NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 391 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 TGCTCAAGTTCATTGGTGTGC 0.527000 47 39 0 0 0.006230 0 0 PCK1 5105 broad.mit.edu 37 20 56140810 56140810 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:56140810G>A uc002xyn.4 + 9 1982 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K PCK1_uc010zzm.2_Missense_Mutation_p.E290K NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 607 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCTCCCCTGTGAAATCGAGAG 0.458000 21 22 0 0 0.003330 0 0 CCDC101 112869 broad.mit.edu 37 16 28592443 28592443 + Missense_Mutation SNP A T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:28592443A>T uc002dqf.3 + 1 238 c.53A>T c.(52-54)cAt>cTt p.H18L NPIPL1_uc010vct.2_Intron NM_138414 NP_612423 Q96ES7 SGF29_HUMAN Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA. 18 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 ACAGAGCTCCATCAGCTGATC 0.547000 18 15 0 0 0.006122 0 0 IGSF9 57549 broad.mit.edu 37 1 159900975 159900975 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:159900975G>A uc001fur.2 - 12 1788 c.1590C>T c.(1588-1590)ggC>ggT p.G530G IGSF9_uc001fuq.2_Silent_p.G514G|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 530 Fibronectin type-III 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CACCATCAAAGCCAGGCTCCC 0.552000 10 21 0 0 0.001523 0 0 CCDC59 29080 broad.mit.edu 37 12 82751030 82751030 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:82751030C>T uc001szp.4 - 1 217 c.173G>A c.(172-174)cGa>cAa p.R58Q C12orf26_uc001szq.3_5'Flank|CCDC59_uc021rbm.1_Non-coding_Transcript NM_014167 NP_054886 Q9P031 TAP26_HUMAN Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA. 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2) 5 CAGTTTTCTTCGAAAAGCAAA 0.358000 27 20 0 0 0.001523 0 0 abParts 0 broad.mit.edu 37 2 89156800 89156800 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:89156800G>A uc002sti.1 - 0 c.3475C>T abParts_uc002stj.1_Non-coding_Transcript Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor. GTCCCCTGTGGAAAAAGGGTC 0.547000 11 4 0 0 0.000248 0 0 DNAH3 55567 broad.mit.edu 37 16 20959876 20959876 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:20959876C>T uc010vbe.2 - 56 11272 c.11272G>A c.(11272-11274)Gaa>Aaa p.E3758K DNAH3_uc010vbd.2_Missense_Mutation_p.E1193K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3758 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) TCCTCAATTTCCTTACAGTAG 0.532000 54 17 0 0 0.006122 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2585041 2585041 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:2585041C>T uc002fuw.4 + 10 1746 c.1178C>T c.(1177-1179)cCc>cTc p.P393L PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Missense_Mutation_p.P188L NM_000430 NP_000421 P43034 LIS1_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA. 393 Interaction with DCX.|Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin. G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AAGACGGCACCCTATGTCGTC 0.463000 22 4 0 0 0.000248 0 0 AGTR1 185 broad.mit.edu 37 3 148459398 148459398 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:148459398G>A uc003ewg.3 + 3 1022 c.576G>A c.(574-576)ccG>ccA p.P192P AGTR1_uc003ewh.3_Silent_p.P192P|AGTR1_uc003ewi.3_Silent_p.P192P|AGTR1_uc003ewj.3_Silent_p.P192P|AGTR1_uc003ewk.3_Silent_p.P192P|AGTR1_uc021xfj.1_Silent_p.P192P NM_031850 NP_114438 P30556 AGTR1_HUMAN Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA. 192 Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CAACCCTCCCGATAGGGCTGG 0.393000 32 29 0 0 0.007291 0 0 TNR 7143 broad.mit.edu 37 1 175375835 175375835 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:175375835C>T uc001gkp.1 - 0 97 c.16G>A c.(16-18)Gaa>Aaa p.E6K TNR_uc009wwu.1_Missense_Mutation_p.E6K|TNR_uc010pmz.1_Missense_Mutation_p.E6K NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 6 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACCACTGTTTCCCCATCTGCC 0.532000 32 55 0 0 0.003610 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072798 17072798 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:17072798C>T uc002zlp.1 - 0 903 c.643G>A c.(643-645)Gat>Aat p.D215N NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 215 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGGCAGGAATCCTCCAGTGTC 0.612000 86 15 0 0 0.004990 0 0 FOXI1 2299 broad.mit.edu 37 5 169533105 169533105 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:169533105C>T uc003mai.4 + 0 189 c.144C>T c.(142-144)tcC>tcT p.S48S FOXI1_uc003maj.4_Silent_p.S48S NM_012188 NP_036320 Q12951 FOXI1_HUMAN Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. 48 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCGGCCCTCCTTCGAGGGGG 0.687000 Pendred syndrome 13 18 0 0 0.008871 0 0 TOM1 10043 broad.mit.edu 37 22 35729441 35729442 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:35729441_35729442CC>TT uc003ann.3 + 9 1103_1104 c.978_979CC>TT c.(976-981)ggccct>ggTTct p.P327S TOM1_uc011ami.2_Missense_Mutation_p.P294S|TOM1_uc003anp.3_Missense_Mutation_p.P327S|TOM1_uc011aml.2_Missense_Mutation_p.P282S|TOM1_uc011amk.2_Missense_Mutation_p.P289S|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.P170S|MIR3909_uc021woj.1_5'Flank NM_005488 NP_005479 O60784 TOM1_HUMAN Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA. 327 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 TCGACATGGGCCCTGACCCAGC 0.609000 35 16 0 0 0.004672 0 0 SALL1 6299 broad.mit.edu 37 16 51171209 51171209 + Silent SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:51171209A>G uc021tif.1 - 2 3820 c.3498T>C c.(3496-3498)atT>atC p.I1166I SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.I115I NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1263 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T1165N(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGCTTCCAGGAATTGGAGGGA 0.597000 36 35 0 0 0.003755 0 0 F13B 2165 broad.mit.edu 37 1 197024856 197024856 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:197024856G>A uc001gtt.1 - 7 1387 c.1343C>T c.(1342-1344)cCt>cTt p.P448L NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 448 Sushi 7. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CAAGCAAACAGGTGGGGATGA 0.353000 47 17 0 0 0.002299 0 0 OR4A47 403253 broad.mit.edu 37 11 48510571 48510571 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:48510571C>T uc010rhx.2 + 0 227 c.227C>T c.(226-228)tCc>tTc p.S76F NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCATCCATTTCCCCCAGATTG 0.423000 60 53 0 0 0.003610 0 0 OR1C1 26188 broad.mit.edu 37 1 247921397 247921397 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:247921397G>A uc010pza.2 - 0 312 c.312C>T c.(310-312)ttC>ttT p.F104F NM_012353 NP_036485 Q15619 OR1C1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAAAAGAAACGAAGAAGAAGA 0.473000 21 36 0 0 0.004878 0 0 MED25 81857 broad.mit.edu 37 19 50333362 50333362 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:50333362C>T uc002ppw.2 + 6 769 c.706C>T c.(706-708)Cca>Tca p.P236S MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Missense_Mutation_p.P17S NM_030973 NP_112235 Q71SY5 MED25_HUMAN Homo sapiens mediator complex subunit 25 (MED25), mRNA. 236 Pro-rich. P -> L (in Ref. 2; CAE84581 and 4; CAB66680). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) TGGCTCAGCCCCAGGCCCCCT 0.632000 103 24 0 0 0.005443 0 0 OR51A4 401666 broad.mit.edu 37 11 4968057 4968057 + Missense_Mutation SNP G T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4968057G>T uc010qys.2 - 0 274 c.274C>A c.(274-276)Cct>Act p.P92T NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAATTTCAGGAGCATTGAAC 0.423000 70 62 5.82089e-37 6.55009e-37 0.003610 1 0 OR2M7 391196 broad.mit.edu 37 1 248487408 248487408 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248487408C>T uc010pzk.2 - 0 463 c.463G>A c.(463-465)Gat>Aat p.D155N NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGATTCCATCTGTAGAGCCC 0.488000 180 124 0 0 0.003610 0 0 LCN15 389812 broad.mit.edu 37 9 139658369 139658369 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:139658369G>A uc004cjd.3 - 1 214 c.189C>T c.(187-189)atC>atT p.I63I NM_203347 NP_976222 Q6UWW0 LCN15_HUMAN Homo sapiens lipocalin 15 (LCN15), mRNA. 63 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 CTGTGGGCCTGATGGCCCTGG 0.647000 53 62 0 0 0.003610 0 0 XPO4 64328 broad.mit.edu 37 13 21362747 21362747 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:21362747G>A uc001unq.4 - 19 2961 c.2925C>T c.(2923-2925)acC>acT p.T975T NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN Homo sapiens exportin 4 (XPO4), mRNA. 975 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GATTACAAAGGGTTGGAAACT 0.299000 87 20 0 0 0.002780 0 0 PHC1 1911 broad.mit.edu 37 12 9072355 9072355 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9072355C>T uc001qvd.3 + 2 274 c.118C>T c.(118-120)Ctg>Ttg p.L40L PHC1_uc001qvc.1_Intron|PHC1_uc010sgn.1_Silent_p.L40L|PHC1_uc001qve.3_Silent_p.L40L NM_004426 NP_004417 P78364 PHC1_HUMAN Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA. 40 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TTCCTAGGCTCTGCAAGCACT 0.502000 24 17 0 0 0.002299 0 0 CRNKL1 51340 broad.mit.edu 37 20 20024146 20024146 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:20024146T>C uc002wrs.3 - 7 1477 c.1445A>G c.(1444-1446)gAa>gGa p.E482G NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 482 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CTTCACTTCTTCTTCGTACTG 0.398000 77 58 0 0 0.003610 0 0 FAM19A5 25817 broad.mit.edu 37 22 49103614 49103614 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:49103614C>T uc003bim.4 + 2 465 c.348C>T c.(346-348)ggC>ggT p.G116G FAM19A5_uc003bio.4_Silent_p.G109G NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA. 116 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) ACCGGTCAGGCTGGACGTGCA 0.592000 74 69 0 0 0.003610 0 0 POFUT1 23509 broad.mit.edu 37 20 30804475 30804475 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:30804475T>A uc002wxp.3 + 3 542 c.493T>A c.(493-495)Ttt>Att p.F165I POFUT1_uc002wxo.3_Missense_Mutation_p.F165I|POFUT1_uc010ztt.2_Missense_Mutation_p.F57I|POFUT1_uc010ztu.2_Intron NM_015352 NP_056167 Q9H488 OFUT1_HUMAN Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA. 165 Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTCGGAGCTTTTTACAGGCAT 0.512000 70 55 0 0 0.003610 0 0 FCRL1 115350 broad.mit.edu 37 1 157771858 157771858 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:157771858C>T uc001frg.3 - 4 846 c.733G>A c.(733-735)Gag>Aag p.E245K FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.E245K|FCRL1_uc001fri.3_Missense_Mutation_p.E245K|FCRL1_uc001frj.3_Non-coding_Transcript NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 245 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.H244N(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTGATATCCTCGTGATAAAAC 0.592000 46 35 0 0 0.004878 0 0 ELTD1 64123 broad.mit.edu 37 1 79392644 79392644 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:79392644G>A uc001diq.4 - 7 1166 c.1010C>T c.(1009-1011)tCa>tTa p.S337L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 337 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CATTGAGACTGAAATTACTGA 0.333000 31 12 0 0 0.001368 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653724 30653724 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:30653724G>A uc003nra.3 - 1 303 c.72C>T c.(70-72)ggC>ggT p.G24G PPP1R18_uc003nrb.4_Silent_p.G24G NM_001134870 NP_597728 Q6NYC8 PHTNS_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA. 24 cytoplasm|cytoskeleton actin binding CTTTCTCTCGGCCTCGAACGG 0.677000 105 90 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731541 140731541 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140731541G>A uc003ljo.2 + 0 1714 c.1714G>A c.(1714-1716)Gat>Aat p.D572N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.D572N NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 577 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTCTTCGATATGGTGCC 0.662000 32 12 0 0 0.001882 0 0 IPO8 10526 broad.mit.edu 37 12 30833476 30833476 + Silent SNP G A A rs112676658 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:30833476G>A uc001rjd.3 - 4 927 c.579C>T c.(577-579)tcC>tcT p.S193S NM_006390 NP_006381 O15397 IPO8_HUMAN Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA. 193 intracellular protein transport|signal transduction cytoplasm|nucleus Ran GTPase binding|protein transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AATAATAGGAGGAATCAGGAA 0.363000 106 28 0 0 0.001786 0 0 TMEM5 10329 broad.mit.edu 37 12 64202862 64202862 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:64202862A>G uc001srq.1 + 5 1426 c.1322A>G c.(1321-1323)aAt>aGt p.N441S TMEM5_uc001srs.1_Missense_Mutation_p.N181S NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN Homo sapiens transmembrane protein 5 (TMEM5), mRNA. 441 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTAATGAATAATAAAAGTTAA 0.254000 7 6 0 0 0.001168 0 0 MGAM 8972 broad.mit.edu 37 7 141755362 141755362 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:141755362G>A uc003vwy.3 + 27 3373 c.3319G>A c.(3319-3321)Gac>Aac p.D1107N NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1107 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTCAGTTGGGACTCTCAGCT 0.453000 89 24 0 0 0.006320 0 0 TMEM2 23670 broad.mit.edu 37 9 74349793 74349793 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:74349793G>A uc011lsa.1 - 5 1862 c.1322C>T c.(1321-1323)tCc>tTc p.S441F TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Non-coding_Transcript NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 441 integral to membrane p.S441F(2) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TTGGTACATGGAATAGTCTGT 0.438000 16 54 0 0 0.003610 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105883952 105883952 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:105883952G>A uc002tcq.3 - 11 2555 c.2471C>T c.(2470-2472)cCc>cTc p.P824L TGFBRAP1_uc010fjc.3_Missense_Mutation_p.P593L|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P824L|LOC644617_uc002tcp.3_5'Flank NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 824 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTCACAAAAGGGATTTTGGCA 0.473000 46 21 0 0 0.002299 0 0 MYO18B 84700 broad.mit.edu 37 22 26219584 26219584 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:26219584C>T uc003abz.1 + 12 2884 c.2634C>T c.(2632-2634)atC>atT p.I878I MYO18B_uc003aca.1_Silent_p.I759I|MYO18B_uc010guy.1_Silent_p.I759I|MYO18B_uc010guz.1_Silent_p.I759I|MYO18B_uc011aka.1_Silent_p.I32I|MYO18B_uc011akb.1_Silent_p.I391I NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 878 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCGACAGATCATCCAGCAAA 0.587000 138 92 0 0 0.003610 0 0 PYGO2 90780 broad.mit.edu 37 1 154932091 154932091 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:154932091G>A uc001fft.3 - 2 591 c.385C>T c.(385-387)Ctc>Ttc p.L129F NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA. 129 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCGACGGAGTGGCTGGGGG 0.672000 35 45 0 0 0.002852 0 0 TTN 7273 broad.mit.edu 37 2 179437594 179437594 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179437594C>T uc021vsy.1 - 274 65786 c.65561G>A c.(65560-65562)aGa>aAa p.R21854K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15549K|TTN_uc021vta.1_Missense_Mutation_p.R15482K|TTN_uc021vtb.1_Missense_Mutation_p.R15357K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22781 Fibronectin type-III 58. 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) AGGCAGCATTCTGTCTTCAGC 0.483000 23 23 0 0 0.002780 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964408 15964408 + Silent SNP G A A rs141225215 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:15964408G>A uc003gon.3 - 0 452 c.345C>T c.(343-345)tcC>tcT p.S115S FGFBP2_uc021xmm.1_Silent_p.S115S NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA. 115 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCCTGCACACGGATGGCCTAA 0.647000 54 19 0 0 0.008871 0 0 PDIA4 9601 broad.mit.edu 37 7 148702402 148702402 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:148702402G>A uc003wff.2 - 8 1635 c.1353C>T c.(1351-1353)gcC>gcT p.A451A NM_004911 NP_004902 P13667 PDIA4_HUMAN Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA. 451 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CGTCCGCAATGGCAAAGGTGT 0.587000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 90 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140788198 140788198 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140788198C>T uc003lkj.2 + 0 429 c.429C>T c.(427-429)ttC>ttT p.F143F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.F143F NM_018926 NP_061749 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA. 143 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGAAATTTTCGAATCTGCAT 0.348000 33 8 0 0 0.006214 0 0 NBPF10 100132406 broad.mit.edu 37 1 145360608 145360608 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:145360608T>A uc021oul.1 + 73 9268 c.9233T>A c.(9232-9234)cTg>cAg p.L3078Q NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3078 p.L3078Q(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACTGGATAGATGT 0.478000 43 9 0 0 0.000978 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140803070 140803070 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140803070C>T uc003lkq.2 + 0 2534 c.2276C>T c.(2275-2277)tCt>tTt p.S759F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.S759F|PCDHGC5_uc003lkp.2_Intron|PCDHGB8P_uc011daz.2_5'Flank NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 763 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAGGTCTCTCTCATTGCG 0.567000 28 26 0 0 0.006320 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554605 44554605 + Nonsense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:44554605G>A uc010xdb.2 - 0 1845 c.1609C>T c.(1609-1611)Cga>Tga p.R537* KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TTGTAGTCTCGAATTGCCTTG 0.602000 474 9 0 0 0.008871 0 0 ZNF677 342926 broad.mit.edu 37 19 53747073 53747073 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53747073G>A uc002qbg.1 - 3 244 c.93C>T c.(91-93)gcC>gcT p.A31A ZNF677_uc002qbf.1_Silent_p.A31A|ZNF677_uc002qbh.3_Non-coding_Transcript NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) CCCTGTACAAGGCCCTCTGGG 0.483000 23 38 0 0 0.004878 0 0 C11orf58 10944 broad.mit.edu 37 11 16774376 16774376 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:16774376C>T uc001mmk.2 + 3 431 c.253C>T c.(253-255)Cag>Tag p.Q85* NM_014267 NP_055082 O00193 SMAP_HUMAN Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA. 85 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 GTCTCAATATCAGCAAAGTAT 0.338000 32 10 0 0 0.000978 0 0 ABCA4 24 broad.mit.edu 37 1 94474331 94474331 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:94474331G>A uc001dqh.3 - 40 5915 c.5811C>T c.(5809-5811)atC>atT p.I1937I ABCA4_uc001dqi.1_Silent_p.I56I NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1937 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTAGCCTTAAGATGTCAGTTT 0.423000 91 26 0 0 0.007291 0 0 ZNF677 342926 broad.mit.edu 37 19 53741769 53741769 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53741769C>T uc002qbg.1 - 4 362 c.211G>A c.(211-213)Gaa>Aaa p.E71K ZNF677_uc002qbf.1_Missense_Mutation_p.E71K NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTATTATTTTCCTTTGGTGAT 0.338000 43 10 0 0 0.008291 0 0 DOK5 55816 broad.mit.edu 37 20 53208205 53208205 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:53208205G>A uc002xwy.3 + 4 680 c.460G>A c.(460-462)Gaa>Aaa p.E154K NM_018431 NP_060901 Q9P104 DOK5_HUMAN Homo sapiens docking protein 5 (DOK5), mRNA. 154 IRS-type PTB. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TGTACATGGCGAATGTGCCTT 0.438000 71 51 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9085565 9085565 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9085565T>C uc002mkp.3 - 0 6454 c.6250A>G c.(6250-6252)Agt>Ggt p.S2084G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2084 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTAGTTGAACTTGGGTTTGAA 0.483000 121 41 0 0 0.002522 0 0 NPY5R 4889 broad.mit.edu 37 4 164272439 164272439 + Silent SNP G A A rs144160203 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:164272439G>A uc003iqn.3 + 3 1196 c.1014G>A c.(1012-1014)gaG>gaA p.E338E NPY5R_uc021xtw.1_Silent_p.E338E NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 338 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CTTGCTTTGAGATAAAACCTG 0.388000 23 31 0 0 0.007291 0 0 NCR2 9436 broad.mit.edu 37 6 41318535 41318535 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:41318535G>A uc003oqh.2 + 4 851 c.764G>A c.(763-765)aGa>aAa p.R255K NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR NM_004828 NP_004819 O95944 NCTR2_HUMAN Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA. 255 cellular defense response integral to plasma membrane transmembrane receptor activity p.R255K(2) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) cctgtagagagagaaatatta 0.423000 27 16 0 0 0.003163 0 0 INPPL1 3636 broad.mit.edu 37 11 71945360 71945360 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:71945360T>C uc001osf.3 + 19 2395 c.2248T>C c.(2248-2250)Ttt>Ctt p.F750L INPPL1_uc001osg.3_Missense_Mutation_p.F508L NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 750 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CTACATTGAGTTTGAGAGCAT 0.547000 42 24 0 0 0.004656 0 0 abParts 0 broad.mit.edu 37 14 106573654 106573654 + RNA SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:106573654G>A uc021ser.1 - 1888 c.35128C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.468000 65 30 0 0 0.002836 0 0 KRT79 338785 broad.mit.edu 37 12 53227863 53227863 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:53227863C>T uc001sbb.3 - 0 215 c.182G>A c.(181-183)aGc>aAc p.S61N NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN Homo sapiens keratin 79 (KRT79), mRNA. 61 Head. keratin filament structural molecule activity p.R60Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTTATAGAGGCTTCGGCTGCC 0.662000 41 39 0 0 0.006230 0 0 MUC17 140453 broad.mit.edu 37 7 100679004 100679004 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:100679004C>T uc003uxp.1 + 2 4360 c.4307C>T c.(4306-4308)tCt>tTt p.S1436F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1436 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCCACTTCATCTCCTACAACT 0.517000 243 66 0 0 0.003610 0 0 USP2 9099 broad.mit.edu 37 11 119228237 119228237 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:119228237G>A uc001pwm.4 - 10 1860 c.1565C>T c.(1564-1566)cCc>cTc p.P522L USP2_uc001pwl.4_Missense_Mutation_p.P313L|USP2_uc001pwn.4_Missense_Mutation_p.P279L NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 522 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GTCTCTTAGGGGGaagttcac 0.488000 12 49 0 0 0.003610 0 0 KIN 22944 broad.mit.edu 37 10 7811239 7811239 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:7811239C>T uc001ijt.3 - 7 832 c.738G>A c.(736-738)caG>caA p.Q246Q KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Silent_p.Q140Q NM_012311 NP_036443 O60870 KIN17_HUMAN Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA. 246 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix RNA binding|double-stranded DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 GAGTTGAGCTCTGGGAAGATT 0.433000 8 41 0 0 0.006999 0 0 FNDC3B 64778 broad.mit.edu 37 3 172046830 172046830 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:172046830C>T uc003fhy.3 + 11 1515 c.1343C>T c.(1342-1344)aCa>aTa p.T448I FNDC3B_uc003fhz.4_Missense_Mutation_p.T448I|FNDC3B_uc003fia.3_Missense_Mutation_p.T379I NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 448 Fibronectin type-III 2. T -> A (in Ref. 3; BAG37083). endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ATGGGGTACACATTCAGGCTG 0.483000 102 28 0 0 0.007291 0 0 CAMTA2 23125 broad.mit.edu 37 17 4885044 4885044 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:4885044G>A uc010cku.2 - 6 975 c.563C>T c.(562-564)tCc>tTc p.S188F CAMTA2_uc002gag.2_Missense_Mutation_p.S164F|CAMTA2_uc002gah.2_Missense_Mutation_p.S165F|CAMTA2_uc002gai.2_Missense_Mutation_p.S167F|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.2_5'UTR NM_001171167 NP_001164638 O94983 CMTA2_HUMAN Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA. 165 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GCTGCTGATGGAACAAAAGAT 0.582000 43 12 0 0 0.001855 0 0 HERC2P4 440362 broad.mit.edu 37 16 32163504 32163504 + RNA SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:32163504C>A uc002ecx.3 - 1 c.267G>T Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA. TGATTTTGCCCTTCGGGGTGA 0.532000 81 17 2.08468e-23 2.33312e-23 0.001882 1 0 abParts 0 broad.mit.edu 37 22 22550605 22550605 + RNA SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:22550605C>T uc021wml.1 + 14 c.1416C>T Parts of antibodies, mostly variable regions. ACTCTGCCTCCCTCACCATCT 0.542000 29 27 0 0 0.006320 0 0 FAT3 120114 broad.mit.edu 37 11 92569774 92569774 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:92569774C>T uc001pdj.4 + 14 10146 c.10129C>T c.(10129-10131)Cat>Tat p.H3377Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3377 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGGACAGATTCATTTTTCCAT 0.413000 TCGA Ovarian(4;0.039) 58 193 0 0 0.003610 0 0 GRM8 2918 broad.mit.edu 37 7 126409978 126409978 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:126409978C>T uc003vlr.2 - 5 1609 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 433 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGTACTCATTCGTGGACAAAG 0.403000 HNSCC(24;0.065) 25 41 0 0 0.002522 0 0 OR51B6 390058 broad.mit.edu 37 11 5373574 5373574 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:5373574C>T uc010qzb.2 + 0 837 c.837C>T c.(835-837)ttC>ttT p.F279F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA. 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATCCACTTCCTTTTCCCAC 0.393000 66 60 0 0 0.003610 0 0 RRM1 6240 broad.mit.edu 37 11 4127421 4127421 + Missense_Mutation SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4127421A>G uc001lyw.4 + 2 573 c.254A>G c.(253-255)aAc>aGc p.N85S RRM1_uc009yeh.1_5'UTR|RRM1_uc009yei.3_Missense_Mutation_p.N45S|RRM1_uc010qyc.2_Intron NM_001033 NP_001024 P23921 RIR1_HUMAN Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA. 85 ATP-cone. DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) GCTGTCTCTAACTTGCACAAA 0.408000 14 13 0 0 0.001855 0 0 RXFP2 122042 broad.mit.edu 37 13 32371395 32371395 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:32371395C>T uc001utt.3 + 16 1915 c.1844C>T c.(1843-1845)tCc>tTc p.S615F RXFP2_uc010aba.3_Missense_Mutation_p.S591F NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 615 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ATGTTCTGTTCCATTCAAAAA 0.398000 53 30 0 0 0.003271 0 0 PCNXL2 80003 broad.mit.edu 37 1 233122064 233122064 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233122064C>T uc001hvl.2 - 32 6249 c.6014G>A c.(6013-6015)gGc>gAc p.G2005D PCNXL2_uc001hvk.1_Missense_Mutation_p.G657D|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 2005 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACTCAGGTGGCCGGTGGTGGT 0.687000 6 3 0 0 0.004672 0 0 IGSF21 84966 broad.mit.edu 37 1 18703426 18703426 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:18703426C>T uc001bau.2 + 7 1617 c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C IGSF21_uc001bav.2_Missense_Mutation_p.R233C NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 412 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CTCCATGTATCGCTGCACCGC 0.657000 22 12 0 0 0.003163 0 0 KCNS3 3790 broad.mit.edu 37 2 18113407 18113407 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:18113407C>T uc021veh.1 + 0 1132 c.1132C>T c.(1132-1134)Ccg>Tcg p.P378S KCNS3_uc002rcv.3_Missense_Mutation_p.P378S|KCNS3_uc002rcw.3_Missense_Mutation_p.P378S NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 378 Segment H5 (pore-forming) (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.P378L(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGACACCCACCCGGTCACCTT 0.557000 28 30 0 0 0.007291 0 0 GAD1 2571 broad.mit.edu 37 2 171716242 171716242 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:171716242G>A uc002ugi.3 + 16 2057 c.1635G>A c.(1633-1635)ctG>ctA p.L545L GAD1_uc010fqc.3_Silent_p.L164L NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 545 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.A544G(1)|p.A544T(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCAAAGCCCTGATGATGGAGT 0.483000 14 19 0 0 0.008871 0 0 ZNF34 80778 broad.mit.edu 37 8 145998669 145998669 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:145998669C>T uc003zdy.4 - 5 1767 c.1665G>A c.(1663-1665)cgG>cgA p.R555R ZNF34_uc010mgb.3_Silent_p.R452R|ZNF34_uc003zdx.4_Silent_p.R534R NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN Homo sapiens zinc finger protein 34 (ZNF34), mRNA. 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) AGAAGTCCTCCCGGAGGTGAA 0.602000 22 10 0 0 0.006214 0 0 ZNF414 84330 broad.mit.edu 37 19 8576722 8576722 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8576722G>A uc002mke.4 - 4 771 c.653C>T c.(652-654)cCc>cTc p.P218L ZNF414_uc010dwf.3_Missense_Mutation_p.P207L|ZNF414_uc002mkf.3_Missense_Mutation_p.P218L NM_001146175 NP_001139647 Q96IQ9 ZN414_HUMAN Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA. 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CTCCGGCGCGGGCGGCTCTCG 0.751000 6 8 0 0 0.004482 0 0 MYO15A 51168 broad.mit.edu 37 17 18060493 18060493 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:18060493C>T uc021trm.1 + 48 8956 c.8737C>T c.(8737-8739)Cgc>Tgc p.R2913C MYO15A_uc021trl.1_Missense_Mutation_p.R2911C|MYO15A_uc010vxi.2_Missense_Mutation_p.R177C|MYO15A_uc010vxj.1_Missense_Mutation_p.R112C|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank|MYO15A_uc010vxm.2_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2913 SH3.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTGCGTGGTTCGCAGGAAGGT 0.662000 7 7 0 0 0.003080 0 0 UBXN10 127733 broad.mit.edu 37 1 20517764 20517764 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:20517764G>A uc001bdb.3 + 1 794 c.710G>A c.(709-711)cGa>cAa p.R237Q UBXN10_uc021oia.1_Missense_Mutation_p.R237Q NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN Homo sapiens UBX domain protein 10 (UBXN10), mRNA. 237 UBX. endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 ACCTCCTACCGACACTGCAGC 0.502000 50 48 0 0 0.003214 0 0 IGLL1 3543 broad.mit.edu 37 22 23917246 23917246 + Nonsense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:23917246C>T uc002zxd.3 - 1 348 c.230G>A c.(229-231)tGg>tAg p.W77* IGLL1_uc002zxe.3_Intron NM_020070 NP_064455 P15814 IGLL1_HUMAN Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA. 77 immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 GGGGCCAGTCCAGGAGCCGCG 0.632000 59 9 0 0 0.000978 0 0 SPAG17 200162 broad.mit.edu 37 1 118570995 118570995 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:118570995G>A uc001ehk.2 - 25 3700 c.3632C>T c.(3631-3633)cCt>cTt p.P1211L NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1211 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) TTGTAAAACAGGTTCTGGTTC 0.398000 67 35 0 0 0.005524 0 0 STAT6 6778 broad.mit.edu 37 12 57502002 57502002 + Silent SNP G C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57502002G>C uc009zpg.3 - 1 209 c.207C>G c.(205-207)gtC>gtG p.V69V STAT6_uc009zpe.3_Silent_p.V20V|STAT6_uc001sna.3_Silent_p.V20V|STAT6_uc009zpf.3_Silent_p.V20V|STAT6_uc010srb.2_Intron|STAT6_uc010src.2_5'UTR|STAT6_uc010srd.2_Intron NM_001178081 NP_001171552 P42226 STAT6_HUMAN Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA. 20 regulation of transcription from RNA polymerase II promoter cytosol|nucleus DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GGGGAAAGTCGACATAGAGCC 0.577000 20 5 0 0 0.001984 0 0 VWA3B 200403 broad.mit.edu 37 2 98846523 98846523 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:98846523G>A uc002syo.3 + 15 2425 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E240K|VWA3B_uc002sym.3_Missense_Mutation_p.E721K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E378K|VWA3B_uc002syp.1_Missense_Mutation_p.E113K|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_Missense_Mutation_p.E38K NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 721 p.E721K(2) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCATCAAAAGGAAATCTGTTC 0.358000 28 15 0 0 0.004007 0 0 RC3H2 54542 broad.mit.edu 37 9 125617595 125617595 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:125617595G>A uc010mwc.1 - 14 2924 c.2683C>T c.(2683-2685)Ccc>Tcc p.P895S RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P895S|RC3H2_uc004bne.4_Missense_Mutation_p.P895S NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA. 895 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TCACTAAAGGGAATTATTGGA 0.433000 9 17 0 0 0.004007 0 0 BBOX1 8424 broad.mit.edu 37 11 27114840 27114841 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:27114840_27114841GG>AA uc001mre.1 + 4 828_829 c.460_461GG>AA c.(460-462)gga>AAa p.G154K BBOX1_uc009yih.1_Missense_Mutation_p.G154K|BBOX1_uc001mrg.1_Missense_Mutation_p.G154K|BBOX1_uc021qfd.1_Missense_Mutation_p.G154K NM_003986 NP_003977 O75936 BODG_HUMAN Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA. 154 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AAGACTCACCGGAGCATCTGAC 0.426000 43 35 0 0 0.004672 0 0 SPTB 6710 broad.mit.edu 37 14 65252634 65252634 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:65252634G>A uc001xht.3 - 15 3648 c.3597C>T c.(3595-3597)tcC>tcT p.S1199S SPTB_uc001xhr.3_Silent_p.S1199S|SPTB_uc001xhs.3_Silent_p.S1199S|SPTB_uc001xhu.3_Silent_p.S1199S NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1199 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.S1199C(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CAGCTTCCAGGGAGTCTGGGG 0.532000 66 78 0 0 0.003610 0 0 MC5R 4161 broad.mit.edu 37 18 13826521 13826521 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:13826521C>T uc010xaf.2 + 0 979 c.757C>T c.(757-759)Ccg>Tcg p.P253S NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 253 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.P253L(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GTGCTGGGCCCCGTTCTTCCT 0.577000 121 31 0 0 0.007291 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519888 113519888 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:113519888C>T uc010ljy.1 - 3 1290 c.1259G>A c.(1258-1260)gGa>gAa p.G420E NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 420 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACTAGTATCTCCCAATGATGG 0.398000 122 22 0 0 0.002299 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22830952 22830952 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:22830952C>T uc001irl.4 - 7 1065 c.817G>A c.(817-819)Gac>Aac p.D273N PIP4K2A_uc010qcu.2_Missense_Mutation_p.D133N NM_005028 NP_005019 P48426 PI42A_HUMAN Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA. 273 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 AGACTGTAGTCCATGAGCTTC 0.542000 6 41 0 0 0.003610 0 0 ETV6 2120 broad.mit.edu 37 12 12022615 12022615 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:12022615G>A uc001qzz.3 + 4 995 c.721G>A c.(721-723)Gag>Aag p.E241K ETV6_uc001raa.1_Missense_Mutation_p.E34K NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 241 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) GTCTCCCATGGAGAATAATCA 0.637000 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""" 84 31 0 0 0.002445 0 0 UBASH3A 53347 broad.mit.edu 37 21 43863433 43863433 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:43863433C>T uc002zbe.3 + 12 1727 c.1643C>T c.(1642-1644)cCc>cTc p.P548L UBASH3A_uc002zbf.3_Missense_Mutation_p.P510L|UBASH3A_uc010gpe.3_Intron|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. 548 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CCCGCGTTTCCCCTGTCCGCC 0.592000 3 6 0 0 0.001984 0 0 KIF5A 3798 broad.mit.edu 37 12 57962771 57962772 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57962771_57962772CC>TT uc001sor.1 + 8 948_949 c.740_741CC>TT c.(739-741)gcc>gTT p.A247V KIF5A_uc010srr.1_Missense_Mutation_p.A158V NM_004984 NP_004975 Q12840 KIF5A_HUMAN Homo sapiens kinesin family member 5A (KIF5A), mRNA. 247 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GCAGAGGGAGCCGTGCTGGACG 0.564000 29 7 0 0 0.004672 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267576 67267576 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:67267576G>A uc001olx.3 - 4 1146 c.957C>T c.(955-957)tcC>tcT p.S319S PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Silent_p.S319S|PITPNM1_uc001olz.3_Silent_p.S319S NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 319 Poly-Ser. brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CTCCATGTTGGGATGAGTAGG 0.692000 51 6 0 0 0.001984 0 0 C12orf51 283450 broad.mit.edu 37 12 112616865 112616865 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:112616865G>A uc021reb.1 - 63 11227 c.10831C>T c.(10831-10833)Cca>Tca p.P3611S NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TTGGGCTTTGGCACGCCATAC 0.642000 27 9 0 0 0.008291 0 0 DLEC1 9940 broad.mit.edu 37 3 38087107 38087107 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:38087107G>A uc003chp.1 + 1 506 c.485G>A c.(484-486)cGg>cAg p.R162Q DLEC1_uc003cho.1_Missense_Mutation_p.R162Q|DLEC1_uc010hgv.1_Missense_Mutation_p.R162Q NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 162 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GCCCAAGCACGGGCTATTGCG 0.527000 61 28 0 0 0.001786 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160688295 160688295 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:160688295G>A uc002ubb.4 - 27 3918 c.3844C>T c.(3844-3846)Cca>Tca p.P1282S LY75-CD302_uc010fos.3_Missense_Mutation_p.P1282S|LY75-CD302_uc002ubc.4_Missense_Mutation_p.P1282S NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 1282 C-type lectin 8. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding TGTGATTTTGGATCTGTTGAA 0.279000 35 12 0 0 0.000978 0 0 TLR6 10333 broad.mit.edu 37 4 38829400 38829400 + Missense_Mutation SNP T A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:38829400T>A uc010ifg.2 - 1 1816 c.1695A>T c.(1693-1695)gaA>gaT p.E565D TLR6_uc003gtm.3_Missense_Mutation_p.E565D NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN Homo sapiens toll-like receptor 6 (TLR6), mRNA. 565 LRRCT. MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTATAACTTTCTGGGTAGT 0.428000 89 70 0 0 0.003610 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574090 140574090 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140574090C>T uc003lix.3 + 0 2139 c.1965C>T c.(1963-1965)acC>acT p.T655T NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 655 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCGGCCACCGCCACGCTGC 0.711000 8 30 0 0 0.006320 0 0 ROBO2 6092 broad.mit.edu 37 3 77612324 77612324 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:77612324G>A uc011bgk.2 + 11 2181 c.1538G>A c.(1537-1539)gGa>gAa p.G513E ROBO2_uc021xat.1_Missense_Mutation_p.G525E|ROBO2_uc003dpy.4_Missense_Mutation_p.G509E|ROBO2_uc003dpz.3_Missense_Mutation_p.G513E|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 509 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATAGAGTCTGGAGCAACAATC 0.433000 23 14 0 0 0.001855 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901663 160901663 + Nonsense_Mutation SNP C A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:160901663C>A uc002ube.2 - 1 327 c.115G>T c.(115-117)Gga>Tga p.G39* PLA2R1_uc010zcp.2_Nonsense_Mutation_p.G39*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.G39* NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 39 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ACAAATATTCCTTTATCTGAA 0.378000 26 10 2.17888e-05 2.40983e-05 0.006214 1 0 PDE8B 8622 broad.mit.edu 37 5 76645262 76645262 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:76645262G>A uc003kfa.3 + 7 940 c.895G>A c.(895-897)Gaa>Aaa p.E299K PDE8B_uc003kfd.3_Intron|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.E279K|PDE8B_uc003kfc.3_Missense_Mutation_p.E299K NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 299 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCCAGCCTTCGAAAGGATGAT 0.502000 161 62 0 0 0.003610 0 0 SUPT6H 6830 broad.mit.edu 37 17 27003316 27003316 + Silent SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:27003316C>T uc010crt.3 + 7 957 c.765C>T c.(763-765)ccC>ccT p.P255P SUPT6H_uc002hby.3_Silent_p.P255P NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 255 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GAGTGCGCCCCAAGAAGACCA 0.458000 70 18 0 0 0.007413 0 0 TIGIT 201633 broad.mit.edu 37 3 114014634 114014634 + Missense_Mutation SNP G A A rs146935299 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:114014634G>A uc003ebg.2 + 1 1059 c.304G>A c.(304-306)Gat>Aat p.D102N NM_173799 NP_776160 Q495A1 TIGIT_HUMAN Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA. 102 Ig-like V-type. negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding p.D102N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GACCGTGAACGATACAGGGGA 0.567000 26 26 0 0 0.004656 0 0 SLC9C2 284525 broad.mit.edu 37 1 173486750 173486750 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:173486750C>T uc001giz.2 - 22 3256 c.2833G>A c.(2833-2835)Gac>Aac p.D945N SLC9C2_uc009wwe.2_Missense_Mutation_p.D503N NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 945 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CCAATTATGTCCCCAGTAGTA 0.398000 127 29 0 0 0.007291 0 0 SYCP1 6847 broad.mit.edu 37 1 115537360 115537360 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:115537360G>A uc001efr.3 + 30 2954 c.2745G>A c.(2743-2745)agG>agA p.R915R SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.R915R|SYCP1_uc009wgw.3_Silent_p.R890R NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 915 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CACTGTATAGGAACAATAATC 0.279000 12 16 0 0 0.006122 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701304 195701304 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:195701304C>T uc011btq.1 - 7 1189 c.560G>A c.(559-561)gGc>gAc p.G187D SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA. AGGGCACATGCCTGACCAGAC 0.572000 39 6 0 0 0.001984 0 0 ADA 100 broad.mit.edu 37 20 43251473 43251473 + Silent SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:43251473G>A uc002xmj.3 - 7 905 c.777C>T c.(775-777)ttC>ttT p.F259F NM_000022 NP_000013 P00813 ADA_HUMAN Homo sapiens adenosine deaminase (ADA), mRNA. 259 T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) CGCTTACCTCGAAGTGCATGT 0.602000 Adenosine Deaminase Deficiency 99 72 0 0 0.003610 0 0 ANO10 55129 broad.mit.edu 37 3 43591317 43591317 + Silent SNP A G G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:43591317A>G uc003cmv.3 - 10 1863 c.1692T>C c.(1690-1692)gtT>gtC p.V564V ANO10_uc011azs.2_Silent_p.V564V|ANO10_uc003cmw.3_Silent_p.V498V|ANO10_uc010hil.3_Silent_p.V374V|ANO10_uc011azt.2_Silent_p.V453V NM_018075 NP_060545 Q9NW15 ANO10_HUMAN Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA. 564 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CCACAGATATAACACTCATCG 0.358000 34 11 0 0 0.001368 0 0 ATP13A2 23400 broad.mit.edu 37 1 17318891 17318891 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:17318891G>A uc001baa.2 - 17 2042 c.1852C>T c.(1852-1854)Ccc>Tcc p.P618S ATP13A2_uc001bac.2_Missense_Mutation_p.P613S|ATP13A2_uc001bab.2_Missense_Mutation_p.P613S NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 618 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGCACCGGGGGCTCCTCCTGC 0.692000 25 22 0 0 0.001882 0 0 THSD7B 80731 broad.mit.edu 37 2 137814229 137814229 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:137814229C>T uc002tva.1 + 1 286 c.286C>T c.(286-288)Cgg>Tgg p.R96W THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.V96V(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTCAAGCCTCGGACTGCAGA 0.537000 34 21 0 0 0.008871 0 0 OXER1 165140 broad.mit.edu 37 2 42990265 42990265 + Missense_Mutation SNP G A A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:42990265G>A uc002rss.3 - 0 1137 c.1055C>T c.(1054-1056)cCc>cTc p.P352L NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 352 regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity p.P352P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 GTAGAGCACGGGGTCCAGGAC 0.652000 21 22 0 0 0.002299 0 0 C4BPA 722 broad.mit.edu 37 1 207307809 207307809 + Missense_Mutation SNP G A A rs141825051 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:207307809G>A uc001hfo.3 + 8 1339 c.1145G>A c.(1144-1146)cGt>cAt p.R382H NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 382 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 AGGAAAAGTCGTCCTGCCAAT 0.398000 66 19 0 0 0.002780 0 0 ZNF619 285267 broad.mit.edu 37 3 40529712 40529712 + Missense_Mutation SNP C T T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:40529712C>T uc011azb.2 + 5 2138 c.1831C>T c.(1831-1833)Cct>Tct p.P611S ZNF619_uc011aza.2_Missense_Mutation_p.P513S|ZNF619_uc011azc.2_Missense_Mutation_p.P571S|ZNF619_uc011azd.2_Missense_Mutation_p.P527S|ZNF619_uc003ckj.3_Missense_Mutation_p.P555S|ZNF619_uc021wwh.1_Missense_Mutation_p.P562S NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA. 611 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GAGCCCGAATCCTTTGTCTCA 0.473000 66 24 0 0 0.003954 0 0 APPL2 55198 broad.mit.edu 37 12 105568156 105568156 + Missense_Mutation SNP T C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:105568156T>C uc010swu.1 - 20 2167 c.1949A>G c.(1948-1950)aAc>aGc p.N650S APPL2_uc010swt.2_Missense_Mutation_p.N601S|APPL2_uc001tlf.1_Missense_Mutation_p.N644S|APPL2_uc001tlg.1_Missense_Mutation_p.N398S NM_001251904 NP_001238833 Q8NEU8 DP13B_HUMAN Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA. 644 cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGGTTGATCGTTTAACAGTAC 0.438000 38 31 0 0 0.007291 0 0 XPR1 9213 broad.mit.edu 37 1 180849298 180849298 + Frame_Shift_Del DEL C - - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:180849298delC uc001goi.3 + 13 2087 c.1895delC c.(1894-1896)gccfs p.A632fs XPR1_uc009wxn.3_Frame_Shift_Del_p.A567fs NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA. 632 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ATCTCTGTGGCCCCCCTGAAC 0.507 --- 30 --- --- 74 --- ICA1L 130026 broad.mit.edu 37 2 203682140 203682140 + Splice_Site DEL C - - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:203682140delC uc002uzh.1 - 7 848 c.684_splice c.e7+1 p.Q228_splice ICA1L_uc002uzi.1_Splice_Site_p.Q228_splice|ICA1L_uc021vvi.1_Splice_Site NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA. 228 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGTGGGTACCTGGTAGGTA 0.383 --- 126 --- --- 140 --- CLDN1 9076 broad.mit.edu 37 3 190039919 190039920 + Frame_Shift_Ins INS - C C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:190039919_190039920insC uc003fsh.3 - 0 316_317 c.76_77insG c.(76-78)gccfs p.A26fs NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 26 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CTGGGGCAGGGCAGTGCTGACG 0.658 --- 74 --- --- 31 --- RIMS1 22999 broad.mit.edu 37 6 72952079 72952079 + Frame_Shift_Del DEL A - - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:72952079delA uc003pga.3 + 9 2097 c.2020delA c.(2020-2022)aacfs p.N674fs RIMS1_uc011dyb.2_Frame_Shift_Del_p.N300fs|RIMS1_uc003pgc.3_Frame_Shift_Del_p.N300fs|RIMS1_uc010kaq.3_Frame_Shift_Del_p.N148fs|RIMS1_uc011dyc.2_Frame_Shift_Del_p.N148fs|RIMS1_uc010kar.3_Frame_Shift_Del_p.N67fs|RIMS1_uc011dyd.2_Frame_Shift_Del_p.N133fs|RIMS1_uc003pgb.4_Frame_Shift_Del_p.N300fs|RIMS1_uc010kas.1_Frame_Shift_Del_p.N133fs NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 674 PDZ. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGAAGTTTACAACATTATTTT 0.308 --- 7 --- --- 4 --- ASZ1 136991 broad.mit.edu 37 7 117003732 117003734 + In_Frame_Del DEL CTA - - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:117003732_117003734delCTA uc003vjb.2 - 12 1407_1409 c.1344_1346delTAG c.(1342-1347)agtaga>aga p.S448del ASZ1_uc011kno.1_In_Frame_Del_p.S439del|ASZ1_uc011knp.1_In_Frame_Del_p.S240del NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. 448 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTTCAAAATTCTACTATTCCATG 0.320 --- 33 --- --- 36 --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT - - rs34222232 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:139277995_139277997delGCT uc004chh.3 - 14 1633_1635 c.1624_1626delAGC c.(1624-1626)agcdel p.S542del NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(4) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 --- 5 --- --- 4 --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - TCC TCC rs61746014 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:2049882_2049883insTCC uc002cof.1 - 10 1682_1683 c.1667_1668insGGA c.(1666-1668)gac>gaGGAc p.555_556insE TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN Homo sapiens zinc finger protein 598 (ZNF598), mRNA. 555 intracellular zinc ion binding p.E555_D556insE(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 --- 13 --- --- 6 --- SLCO4A1 28231 broad.mit.edu 37 20 61303154 61303164 + Frame_Shift_Del DEL CGGAGTCTTCA - - rs149499822 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:61303154_61303164delCGGAGTCTTCA uc002ydb.1 + 11 2283_2293 c.2078_2088delCGGAGTCTTCA c.(2077-2088)tcggagtcttcafs p.S693fs SLCO4A1_uc002yde.1_Frame_Shift_Del_p.S95fs NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA. 693 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) AAGCCCCTGTCGGAGTCTTCAGATGGCCTGG 0.640 --- 106 --- --- 18 --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - TGC TGC rs34890218 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:28194933_28194934insTGC uc003adj.3 - 0 2553_2554 c.1598_1599insGCA c.(1597-1599)caa>caGCAa p.533_533Q>QQ NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 533 Poly-Gln. binding p.Q532Q(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" --- 9 --- --- 4 ---