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 OR7E91P 79315 broad.mit.edu 37 2 71256050 71256050 + RNA SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:71256050C>T uc002sho.3 + 2 c.220C>T OR7E91P_uc010fdz.3_Non-coding_Transcript Homo sapiens olfactory receptor, family 7, subfamily E, member 91 pseudogene (OR7E91P), non-coding RNA. CCCAAGGTGTCCAAGTCACAC 0.473000 2 4 0 0 1 0 0 LSR 51599 broad.mit.edu 37 19 35749931 35749931 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:35749931G>A uc002nyl.3 + 2 905 c.682G>A c.(682-684)Ggg>Agg p.G228R LSR_uc010xsr.2_Intron|LSR_uc002nym.3_Missense_Mutation_p.G228R|LSR_uc002nyn.3_Missense_Mutation_p.G228R|LSR_uc002nyo.3_Missense_Mutation_p.G228R|LSR_uc002nyp.3_Missense_Mutation_p.G191R NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 228 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGACCTCCAGGGGAACAATGA 0.592000 56 30 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451437 55451437 + Silent SNP G A A rs140816006 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:55451437G>A uc002qih.4 - 3 826 c.750C>T c.(748-750)ttC>ttT p.F250F NLRP7_uc010esk.3_Silent_p.F250F|NLRP7_uc002qig.4_Silent_p.F250F|NLRP7_uc002qii.4_Silent_p.F250F|NLRP7_uc010esl.3_Silent_p.F278F NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 250 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CATCGACCACGAACAGGATTC 0.577000 99 65 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430789 37430789 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:37430789G>A uc021ppc.1 + 6 895 c.796G>A c.(796-798)Gaa>Aaa p.E266K ANKRD30A_uc001iza.1_Missense_Mutation_p.E266K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTTGGTGGAAAAAACACC 0.478000 34 12 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679626 104679626 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:104679626C>T uc001kwm.3 + 0 1552 c.1389C>T c.(1387-1389)gcC>gcT p.A463A CNNM2_uc001kwn.3_Silent_p.A463A|CNNM2_uc001kwl.3_Silent_p.A463A NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA. 463 CBS 1. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCGGCGAAGCCATCCTGGACT 0.577000 21 18 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108822756 108822756 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:108822756C>T uc003dxl.3 - 3 250 c.163G>A c.(163-165)Gaa>Aaa p.E55K MORC1_uc011bhn.2_Missense_Mutation_p.E55K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 55 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGCAGTTTTTCATTATCCACT 0.383000 61 54 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172628636 172628636 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:172628636C>T uc001gis.3 + 0 452 c.295C>T c.(295-297)Ctg>Ttg p.L99L FASLG_uc001git.3_Silent_p.L99L NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 99 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity p.G98G(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 AGGATTGGGCCTGGGGATGTT 0.567000 18 11 0 0 1 0 0 ANKRD19P 138649 broad.mit.edu 37 9 95646227 95646227 + RNA SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:95646227C>T uc004asr.4 + 8 c.1920C>T Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA. CTCCCAGTGTCCAGTAGGGCA 0.567000 2 40 0 0 1 0 0 ZNF826P 664701 broad.mit.edu 37 19 20607701 20607701 + RNA SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:20607701G>A uc002now.2 - 0 c.71C>T ZNF826P_uc010ecl.2_Non-coding_Transcript|ZNF826P_uc010xrf.2_Non-coding_Transcript|ZNF826P_uc021urn.1_Non-coding_Transcript|ZNF826P_uc002noz.3_Non-coding_Transcript Homo sapiens zinc finger protein 826, pseudogene (ZNF826P), non-coding RNA. large_intestine(4) 4 ACAGAGCAGTGAACAAGAGAT 0.577000 7 7 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146205 31146205 + Missense_Mutation SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:31146205T>G uc003tca.2 + 15 1603 c.1314T>G c.(1312-1314)agT>agG p.S438R ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.S466R|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.S465R|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.S417R|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.S466R NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 438 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TGGCCAGCAGTGGGGTGAATG 0.587000 39 29 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22539424 22539424 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:22539424C>T uc001wcy.3 + 1 331 c.320C>T c.(319-321)tCc>tTc p.S107F TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209. TTGTACATTTCCTCTTCCCAG 0.527000 27 15 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220037718 220037718 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:220037718G>A uc002vju.4 - 7 975 c.823C>T c.(823-825)Cgt>Tgt p.R275C NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.R275C NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA. 275 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 AGGAGGCAACGGGAGGTCAGT 0.617000 136 4 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47119686 47119686 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:47119686G>A uc002iom.3 + 8 1358 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K IGF2BP1_uc010dbj.3_Missense_Mutation_p.E203K NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 342 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.E342K(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGCCGAGCAGGAAATAATGAA 0.517000 1 58 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284414 159284414 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:159284414G>A uc010piu.2 - 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CTTCAAAGAGGAACTCAGTCA 0.423000 88 77 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2752551 2752552 + Missense_Mutation DNP GG TA TA TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:2752551_2752552GG>TA uc003jdc.3 + 0 290_291 c.173_174GG>TA c.(172-174)tgg>tTA p.W58L C5orf38_uc011cmg.2_Missense_Mutation_p.W58L|C5orf38_uc011cmh.2_Non-coding_Transcript|C5orf38_uc011cmi.2_Non-coding_Transcript|C5orf38_uc011cmj.2_Non-coding_Transcript NM_178569 NP_848664 Q86SI9 CEI_HUMAN Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA. 58 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GGGGCGCCTTGGTTGCGAATTG 0.673000 11 6 0 0 1 0 0 ANKRD16 54522 broad.mit.edu 37 10 5920177 5920177 + Silent SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:5920177A>T uc010qat.2 - 6 1545 c.1002T>A c.(1000-1002)tcT>tcA p.S334S ANKRD16_uc009xie.3_Intron|ANKRD16_uc009xif.3_Silent_p.S334S|ANKRD16_uc001iiq.3_3'UTR NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA. 334 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 TGATGTCTTCAGAATCCTTCA 0.557000 74 42 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95541354 95541354 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:95541354G>A uc003ygo.2 - 6 895 c.824C>T c.(823-825)cCt>cTt p.P275L KIAA1429_uc003ygp.3_Missense_Mutation_p.P275L|KIAA1429_uc010maz.2_5'Flank NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 275 Glu-rich. RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ttcctcctcAGGAATACTGTC 0.438000 6 8 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121219325 121219325 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:121219325C>T uc003yox.3 + 9 1448 c.1183C>T c.(1183-1185)Cca>Tca p.P395S COL14A1_uc003yoy.3_Missense_Mutation_p.P73S|COL14A1_uc010mde.1_Missense_Mutation_p.P73S NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 395 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGGTGGAAAACCAGACGAGGT 0.373000 14 11 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33465234 33465234 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:33465234G>A uc003zsz.3 - 19 2753 c.2652C>T c.(2650-2652)ttC>ttT p.F884F NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Silent_p.F881F|NOL6_uc011lob.2_Silent_p.F832F|NOL6_uc003ztb.1_Silent_p.F884F NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 884 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CAGGGTGCAGGAAAAGGGCAG 0.617000 0 5 0 0 1 0 0 EXOSC3 51010 broad.mit.edu 37 9 37785066 37785066 + Splice_Site SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:37785066C>T uc004aal.2 - 1 1 c.-25_splice c.e1-1 EXOSC3_uc010mly.1_Splice_Site|EXOSC3_uc004aam.2_Splice_Site NM_016042 NP_057126 Q9NQT5 EXOS3_HUMAN Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA. CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|RNA binding|protein binding breast(2)|endometrium(1)|kidney(1) 4 GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221) AACACCGTTTCCGGTACCCGC 0.632000 1 3 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301621 42301621 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:42301621C>T uc002orn.1 + 1 241 c.165C>T c.(163-165)gtC>gtT p.V55V CEACAM3_uc010eia.1_Silent_p.V55V|CEACAM3_uc002oro.1_Non-coding_Transcript NM_001815 NP_001806 P40198 CEAM3_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA. 55 Ig-like V-type. integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 TTCTACTTGTCCACAATCTGC 0.493000 96 89 0 0 1 0 0 C2orf28 51374 broad.mit.edu 37 2 27438360 27438360 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:27438360C>T uc002rjf.3 + 3 650 c.477C>T c.(475-477)ccC>ccT p.P159P C2orf28_uc002rjg.3_Silent_p.P46P|CAD_uc002rji.3_5'Flank|CAD_uc010eyw.3_5'Flank NM_001170795 NP_001164266 Q6UW56 APR3_HUMAN Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA. 104 EGF-like. integral to membrane|plasma membrane large_intestine(2)|lung(2)|skin(2) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGCAAACCCCCTCAAAGGTG 0.468000 59 65 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123751988 123751988 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:123751988G>A uc004bkv.3 - 23 3042 c.3012C>T c.(3010-3012)ccC>ccT p.P1004P NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1004 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) CACTCCCTTTGGGGAGGTGGG 0.438000 76 31 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886005 57886005 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:57886005G>A uc001nml.1 - 0 912 c.912C>T c.(910-912)gtC>gtT p.V304V OR9Q1_uc001nmj.3_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V304V(2) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTCTCCTAGCGACCTTTCTGA 0.428000 24 41 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760057 54760057 + Silent SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:54760057T>G uc010yer.1 - 3 588 c.477A>C c.(475-477)tcA>tcC p.S159S LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.S168S|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.S168S|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 168 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAGCTTCTGTGAGTACAGGG 0.542000 26 22 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122618162 122618162 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:122618162C>T uc001ubq.3 + 8 1468 c.1360C>T c.(1360-1362)Cct>Tct p.P454S MLXIP_uc001ubr.3_Missense_Mutation_p.P205S|MLXIP_uc001ubs.1_Missense_Mutation_p.P61S|MLXIP_uc001ubt.3_Missense_Mutation_p.P61S NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN Homo sapiens MLX interacting protein (MLXIP), mRNA. 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ACCATTAGTTCCTCCTCCTGC 0.632000 17 18 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202339374 202339374 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:202339374C>T uc002uyd.4 + 5 685 c.320C>T c.(319-321)gCc>gTc p.A107V STRADB_uc021vvb.1_Missense_Mutation_p.A107V NM_018571 NP_061041 Q9C0K7 STRAB_HUMAN Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA. 107 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 TCCTAGAAAGCCGTGATTCTA 0.408000 41 42 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10165989 10165989 + RNA SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:10165989G>A uc010dwx.2 + 14 c.1852G>A Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA. endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GGGAACCCAGGAAGCACTTGG 0.607000 58 31 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156915320 156915320 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:156915320G>A uc003lwz.3 - 20 2582 c.2503C>T c.(2503-2505)Cct>Tct p.P835S ADAM19_uc003lww.2_Missense_Mutation_p.P568S|ADAM19_uc003lwy.3_Missense_Mutation_p.P434S|ADAM19_uc011ddr.1_Missense_Mutation_p.P766S NM_033274 NP_150377 Q9H013 ADA19_HUMAN Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. 835 proteolysis integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGCTTGGAGGAGGCCTCCTG 0.587000 10 93 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390024 48390024 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:48390024G>A uc001jez.3 - 0 968 c.854C>T c.(853-855)tCc>tTc p.S285F NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 285 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGCCCCAGGGACCTGGACAC 0.701000 6 10 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653120 159653120 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:159653120C>T uc010kjv.3 + 10 1776 c.1576C>T c.(1576-1578)Cgc>Tgc p.R526C FNDC1_uc010kjw.1_Missense_Mutation_p.R411C NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 526 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACCCCAGCTTCGCGCCAAGAA 0.562000 11 20 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108474710 108474710 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:108474710G>A uc003dxh.2 - 2 349 c.251C>T c.(250-252)tCg>tTg p.S84L NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN Homo sapiens resistin like beta (RETNLB), mRNA. 84 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AACATCCCACGAACCACAGCC 0.577000 66 52 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80042406 80042406 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:80042406G>A uc002kdu.3 - 26 4868 c.4751C>T c.(4750-4752)tCc>tTc p.S1584F FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1584 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGCATCAGGGGACAGCTTGCC 0.682000 1 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458554 179458554 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179458554C>T uc021vsy.1 - 246 50994 c.50769G>A c.(50767-50769)gaG>gaA p.E16923E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E10618E|TTN_uc021vta.1_Silent_p.E10551E|TTN_uc021vtb.1_Silent_p.E10426E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17850 Fibronectin type-III 22. 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) CTTTGGTCACCTCATCAAAAC 0.388000 4 7 0 0 1 0 0 BATF2 116071 broad.mit.edu 37 11 64757232 64757232 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:64757232G>A uc021qlb.1 - 0 755 c.214C>T c.(214-216)Ccc>Tcc p.P72S BATF2_uc001oce.1_5'UTR|BATF2_uc001ocf.1_Missense_Mutation_p.S65F NM_138456 NP_612465 Q8N1L9 BATF2_HUMAN Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA. 223 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 GGCCTGCAGGGACTGGATCTC 0.652000 28 11 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060553 128060553 + Missense_Mutation SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:128060553T>G uc003eki.3 + 4 1302 c.1264T>G c.(1264-1266)Tgc>Ggc p.C422G NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 422 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GCCCGTCACCTGCCCTCGGCT 0.622000 62 33 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634459 156634459 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:156634459G>A uc003iov.3 + 7 1832 c.1296G>A c.(1294-1296)ctG>ctA p.L432L GUCY1A3_uc010iqc.2_Silent_p.L432L|GUCY1A3_uc010iqd.3_Silent_p.L431L|GUCY1A3_uc003iow.3_Silent_p.L432L|GUCY1A3_uc003iox.3_Silent_p.L432L|GUCY1A3_uc010iqe.3_Silent_p.L197L|GUCY1A3_uc003ioy.3_Silent_p.L432L|GUCY1A3_uc003ioz.3_Silent_p.L197L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.L432L NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 432 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGGGGAAGCTGAAGGCTACCC 0.527000 15 19 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662547 662547 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:662547G>A uc001qii.1 + 13 1458 c.1458G>A c.(1456-1458)ctG>ctA p.L486L B4GALNT3_uc001qij.1_Silent_p.L389L|B4GALNT3_uc001qik.1_Silent_p.L35L NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 486 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGGAGGGCCTGCTGGCCCCCT 0.627000 48 41 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677132 100677132 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:100677132C>T uc003uxp.1 + 2 2488 c.2435C>T c.(2434-2436)cCt>cTt p.P812L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 812 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) ACAAGTATACCTGTCAGCATC 0.478000 286 199 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7241545 7241545 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:7241545C>T uc010sfy.2 - 5 865 c.806G>A c.(805-807)gGg>gAg p.G269E C1R_uc010sfz.1_Missense_Mutation_p.G283E|C1R_uc021quh.1_Missense_Mutation_p.G158E|C1R_uc010sga.1_Missense_Mutation_p.G235E NM_001733 NP_001724 P00736 C1R_HUMAN Homo sapiens complement component 1, r subcomponent (C1R), mRNA. 269 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.L269L(1) 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) CCTTTGCTTCCCACAGAACTC 0.547000 7 5 0 0 1 0 0 SETD4 54093 broad.mit.edu 37 21 37417938 37417938 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:37417938G>A uc002yuw.2 - 4 2041 c.668C>T c.(667-669)cCg>cTg p.P223L SETD4_uc021wiy.1_Missense_Mutation_p.P223L|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.P199L|SETD4_uc002yuz.3_Missense_Mutation_p.P199L|SETD4_uc002yuy.3_Missense_Mutation_p.P223L|SETD4_uc002yva.3_Missense_Mutation_p.P199L NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA. 223 SET. autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 ACAGGTGTCCGGCTCTGCAGA 0.572000 44 41 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338452 103338452 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:103338452C>T uc022ajr.1 - 9 1151 c.991G>A c.(991-993)Gaa>Aaa p.E331K RELN_uc022ajq.1_Missense_Mutation_p.E331K|RELN_uc010liz.3_Missense_Mutation_p.E331K NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 331 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.E331K(4) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGAAGATTTTCCTGCTTCCAC 0.448000 69 64 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227915811 227915811 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:227915811C>T uc021vxr.1 - 31 3133 c.3032G>A c.(3031-3033)gGa>gAa p.G1011E COL4A4_uc021vxs.1_Missense_Mutation_p.G1011E NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1011 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCTGTGAAATCCAGGTGGTCC 0.547000 77 45 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002110 98002110 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:98002110C>T uc003dsj.1 + 0 379 c.379C>T c.(379-381)Cgc>Tgc p.R127C NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GGCATATGATCGCTATGTAGC 0.378000 39 41 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763921 82763921 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:82763921G>A uc003uhx.2 - 2 3234 c.2945C>T c.(2944-2946)tCc>tTc p.S982F PCLO_uc003uhv.2_Missense_Mutation_p.S982F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 928 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 TTGACCTGTGGATTTGGGTGG 0.522000 11 14 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135015287 135015287 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:135015287C>T uc001llz.1 + 16 3273 c.3272C>T c.(3271-3273)cCc>cTc p.P1091L KNDC1_uc001lma.1_Missense_Mutation_p.P1026L|KNDC1_uc001lmb.1_Missense_Mutation_p.P503L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 1091 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGCTGCAGCCCCGGCTGGTGC 0.721000 4 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179392412 179392412 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179392412C>T uc021vsy.1 - 310 99962 c.99737G>A c.(99736-99738)gGa>gAa p.G33246E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26941E|TTN_uc021vta.1_Missense_Mutation_p.G26874E|TTN_uc021vtb.1_Missense_Mutation_p.G26749E|TTN_uc002umq.3_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 34173 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) CGAGAAGCTTCCTTGCAAGCT 0.483000 17 10 0 0 1 0 0 C9orf142 286257 broad.mit.edu 37 9 139887846 139887846 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:139887846C>T uc004cki.3 + 4 499 c.473C>T c.(472-474)cCt>cTt p.P158L NM_183241 NP_899064 Q9BUH6 CI142_HUMAN Homo sapiens chromosome 9 open reading frame 142 (C9orf142), mRNA. 158 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTGCAGGGCCTCAGCTCTTC 0.602000 1 5 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10914420 10914420 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:10914420G>A uc002yip.1 - 20 1667 c.1299C>T c.(1297-1299)atC>atT p.I433I TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.I415I|TPTE_uc002yir.1_Silent_p.I395I|TPTE_uc010gkv.1_Silent_p.I295I NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 433 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTCTATTTGGATTTTTAGAT 0.313000 30 5 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39053786 39053786 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:39053786G>A uc003ooj.4 + 12 1389 c.1329G>A c.(1327-1329)ctG>ctA p.L443L GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 443 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCAGCAGCCTGAGCAGTGGAG 0.637000 73 70 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831412 58831412 + Missense_Mutation SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:58831412A>T uc001xdp.3 + 19 2859 c.2605A>T c.(2605-2607)Ata>Tta p.I869L ARID4A_uc001xdo.3_Missense_Mutation_p.I869L|ARID4A_uc001xdq.3_Missense_Mutation_p.I869L|ARID4A_uc010apg.1_Missense_Mutation_p.I547L NM_002892 NP_002883 P29374 ARI4A_HUMAN Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA. 869 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity p.I869V(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGAGAAAAAAATAAGAATTGA 0.323000 19 20 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688965 55688965 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:55688965C>T uc010sph.2 - 0 52 c.52G>A c.(52-54)Gac>Aac p.D18N NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AACTGTGGGTCATCTGTCAAT 0.378000 26 25 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561085 44561085 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr18:44561085G>A uc002lcr.1 - 0 904 c.551C>T c.(550-552)cCt>cTt p.P184L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 184 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.P184T(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGCGGGCTCAGGGCCCTCGGG 0.701000 34 17 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961464 51961464 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:51961464C>T uc002pwt.3 - 0 245 c.178G>A c.(178-180)Gac>Aac p.D60N SIGLEC8_uc010yda.2_Missense_Mutation_p.D60N|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.D60N NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 60 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGAACTGGGTCAGAGTCAGTC 0.587000 68 54 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133901898 133901898 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:133901898G>A uc003eqc.1 - 10 1215 c.1117C>T c.(1117-1119)Cag>Tag p.Q373* RYK_uc003eqd.1_Nonsense_Mutation_p.Q370* NM_001005861 NP_001005861 P34925 RYK_HUMAN Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA. 371 Protein kinase. Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 ATTGTCACCTGAATTTCAGAA 0.343000 7 8 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36269237 36269237 + Missense_Mutation SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:36269237T>G uc002obs.2 + 3 389 c.245T>G c.(244-246)gTg>gGg p.V82G ARHGAP33_uc002obr.2_Missense_Mutation_p.V82G|ARHGAP33_uc002obt.2_5'UTR|ARHGAP33_uc010eek.2_Missense_Mutation_p.V100G NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 82 PX; atypical. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AATGAGCTGGTGTTCGGGGTG 0.607000 56 51 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31609293 31609293 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:31609293C>T uc002rnv.1 - 8 859 c.780G>A c.(778-780)ggG>ggA p.G260G NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 260 FAD-binding PCMH-type. 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) TCTCCGTGTTCCCCACGACCA 0.627000 44 34 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391579 5391580 + Missense_Mutation DNP CC TT TT TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:5391579_5391580CC>TT uc003soi.4 - 16 5689_5690 c.5340_5341GG>AA c.(5338-5343)aggggc>agAAgc p.G1781S TNRC18_uc003soj.3_Missense_Mutation_p.G163S NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 1781 DNA binding p.G1781C(2)|p.R1780S(2)|p.R1780_G1781>SC(2)|p.G836C(1)|p.R835_G836>SC(1)|p.R835S(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCGCCAGGCCCCTCTTGGTCA 0.649000 16 14 0 0 1 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010511 173010511 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:173010511G>A uc001giu.2 - 2 597 c.596C>T c.(595-597)tCc>tTc p.S199F NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA. 199 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding p.S177F(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 AAGTCTCTAGGAGATGAATTG 0.408000 19 13 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103274276 103274276 + Missense_Mutation SNP A C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:103274276A>C uc003ykr.2 - 54 8164 c.7709T>G c.(7708-7710)tTt>tGt p.F2570C UBR5_uc003yks.2_Missense_Mutation_p.F2569C|UBR5_uc003ykq.3_Missense_Mutation_p.F81C NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 2570 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGGATCAAAAAAAGCAAAATC 0.343000 30 17 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176815 41176815 + Silent SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:41176815A>G uc003jmk.2 - 7 1140 c.930T>C c.(928-930)gaT>gaC p.D310D C6_uc003jml.1_Silent_p.D310D|RN7SK_uc021xxu.1_5'Flank NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 310 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) TAAAACTAGAATCCTAAATGG 0.308000 8 8 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199302 86199302 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:86199302C>T uc001taf.1 - 1 825 c.486G>A c.(484-486)agG>agA p.R162R NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 162 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAAAGTTTTCCTGACTATTC 0.388000 72 59 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41052626 41052626 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:41052626C>T uc003jmj.4 - 11 1661 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K HEATR7B2_uc003jmi.4_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 391 binding p.R390L(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GGCCATCCTTCCCGAGCTTCA 0.393000 32 26 0 0 1 0 0 KCNN1 3780 broad.mit.edu 37 19 18092614 18092614 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:18092614C>T uc002nht.3 + 4 905 c.595C>T c.(595-597)Cac>Tac p.H199Y KCNN1_uc010xqa.1_Missense_Mutation_p.H199Y NM_002248 NP_002239 Q92952 KCNN1_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA. 199 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 GTGCGCCATTCACCCGGTGCC 0.662000 19 19 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58605023 58605024 + Missense_Mutation DNP CC TT TT TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:58605023_58605024CC>TT uc010tro.2 - 2 1365_1366 c.1167_1168GG>AA c.(1165-1170)gagggt>gaAAgt p.G390S C14orf37_uc001xdc.3_Missense_Mutation_p.G352S|C14orf37_uc001xdd.3_Missense_Mutation_p.G352S|C14orf37_uc001xde.3_Missense_Mutation_p.G352S NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA. 352 integral to membrane binding p.E351_G352>DC(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 CCTTCCATACCCTCATGGCTTA 0.554000 107 65 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169699572 169699572 + Splice_Site SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:169699572C>T uc001ggm.4 - 5 872 c.715_splice c.e5+1 p.V239_splice C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 239 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GAGGGATTTACCATTGCAGGC 0.438000 68 34 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122131379 122131379 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:122131379G>A uc022akp.1 - 9 2060 c.1638C>T c.(1636-1638)acC>acT p.T546T CADPS2_uc003vkg.4_Silent_p.T246T|CADPS2_uc022akq.1_Silent_p.T546T|CADPS2_uc010lkq.3_Silent_p.T546T|CADPS2_uc022akr.1_Silent_p.T546T NM_001167940 NP_001161412 Q86UW7 CAPS2_HUMAN Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA. 546 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GGTGGGGATCGGTATAATCCA 0.368000 7 6 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447897 24447897 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:24447897G>A uc001biq.2 - 6 1326 c.1123C>T c.(1123-1125)Cca>Tca p.P375S IL22RA1_uc010oeg.1_Missense_Mutation_p.P307S|IL22RA1_uc009vrb.2_Missense_Mutation_p.P239S|IL22RA1_uc010oeh.2_Missense_Mutation_p.P375S NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 375 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GCGTAGAATGGGAATTGAGCT 0.617000 76 92 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713998 23713998 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:23713998C>T uc002dma.4 - 8 1193 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K ERN2_uc010bxp.3_Missense_Mutation_p.E342K|ERN2_uc010bxq.1_Missense_Mutation_p.E150K NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 294 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AAGCCAGTTTCATCCTTCCCC 0.478000 42 39 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239059547 239059547 + Missense_Mutation SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:239059547A>T uc002vxr.2 + 7 1685 c.1578A>T c.(1576-1578)gaA>gaT p.E526D NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA. 526 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGGGCATGGAAGGTGACTACC 0.677000 15 12 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53452406 53452406 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:53452406C>T uc001sbp.3 + 15 1411 c.1276C>T c.(1276-1278)Ccc>Tcc p.P426S TENC1_uc001sbl.3_Missense_Mutation_p.P302S|TENC1_uc001sbn.3_Missense_Mutation_p.P436S|TENC1_uc001sbq.3_5'UTR|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_5'Flank NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 426 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CTCCTCCAGCCCCGAGAAGAT 0.607000 25 27 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123333824 123333824 + Missense_Mutation SNP T C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:123333824T>C uc003ieo.3 + 9 1341 c.1109T>C c.(1108-1110)gTt>gCt p.V370A ADAD1_uc003iep.3_Missense_Mutation_p.V359A|ADAD1_uc003ieq.3_Missense_Mutation_p.V352A NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 370 A to I editase. RNA processing|multicellular organismal development nucleus adenosine deaminase activity|double-stranded RNA binding p.V370A(2)|p.T369A(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TATCTGACTGTTTACTGTCCT 0.408000 63 68 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085504 9085504 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:9085504C>T uc002mkp.3 - 0 6515 c.6311G>A c.(6310-6312)aGa>aAa p.R2104K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2104 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 TTCTGGATTTCTTTGCTTAGC 0.502000 94 85 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508794 71508794 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:71508794G>A uc011caw.1 + 8 1932 c.1651G>A c.(1651-1653)Gaa>Aaa p.E551K NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 551 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATACCCTGAGGAAATCCCTTC 0.428000 132 51 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106631451 106631451 + RNA SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:106631451C>T uc021ser.1 - 1557 c.30528G>A Parts of antibodies, mostly variable regions. GAAGAGGATCCCCCAGGTACA 0.547000 36 20 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53155759 53155759 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:53155759G>A uc003dgj.3 - 4 568 c.514C>T c.(514-516)Ctg>Ttg p.L172L NM_052859 NP_443091 Q96AA3 RFT1_HUMAN Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA. 172 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GGCAACCACAGCACGAGAAAA 0.408000 20 12 0 0 1 0 0 GADD45B 4616 broad.mit.edu 37 19 2477146 2477146 + Missense_Mutation SNP T A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:2477146T>A uc002lwb.2 + 2 500 c.266T>A c.(265-267)aTc>aAc p.I89N GADD45B_uc002lwc.1_Missense_Mutation_p.I74N NM_015675 NP_056490 O75293 GA45B_HUMAN Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA. 89 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress cervix(2)|lung(1)|ovary(1) 4 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) GACATCAACATCGTGCGGGTG 0.627000 OREG0025141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 44 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372638 175372639 + Missense_Mutation DNP GG AA AA TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:175372638_175372639GG>AA uc001gkp.1 - 1 694_695 c.613_614CC>TT c.(613-615)ccg>TTg p.P205L TNR_uc009wwu.1_Missense_Mutation_p.P205L|TNR_uc010pmz.1_Missense_Mutation_p.P205L NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 205 Cys-rich. 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) GCAACCCAGCGGGCAGTAGGGC 0.594000 167 135 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206921284 206921284 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:206921284G>A uc002vaz.4 - 3 1007 c.602C>T c.(601-603)tCa>tTa p.S201L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN Homo sapiens INO80 complex subunit D (INO80D), mRNA. 201 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 CTGCTGCTGTGAAGGTGCAGG 0.527000 13 7 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G A A rs121913499 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:209113113G>A uc002vcs.3 - 3 640 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle cytosol|peroxisomal matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 40 45 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636330 73636330 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:73636330C>T uc001vje.3 + 1 917 c.593C>T c.(592-594)aCc>aTc p.T198I KLF5_uc001vjd.3_Missense_Mutation_p.T107I NM_001730 NP_001721 Q13887 KLF5_HUMAN Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA. 198 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TCACACCAGACCGCAGCTCCA 0.537000 41 50 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735840 158735840 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:158735840G>A uc010piq.2 - 0 633 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211F(2) 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) GGATCAGCAGGAAGGTGGCTA 0.493000 60 43 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19580814 19580814 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:19580814C>T uc002dgn.2 + 2 501 c.186C>T c.(184-186)tcC>tcT p.S62S C16orf62_uc002dgo.2_Silent_p.S151S|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.S151S NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA. 62 Ser-rich. integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CCTCCTCCTCCAGCTCCGTGG 0.567000 53 39 0 0 1 0 0 SLC45A3 85414 broad.mit.edu 37 1 205628503 205628503 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:205628503G>A uc001hda.1 - 4 1860 c.1521C>T c.(1519-1521)tcC>tcT p.S507S SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA. 507 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCATAAACAGGGATGGGGCCA 0.622000 T """ETV1, ETV5, ELK4, ERG""" prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 24 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110401307 110401307 + Splice_Site SNP G C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:110401307G>C uc003yne.3 + 8 728 c.624_splice c.e8-1 p.L208_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 208 IPT/TIG 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTTTAATTAGATATGGTCTA 0.289000 HNSCC(38;0.096) 25 21 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89809283 89809283 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:89809283C>T uc002fou.1 - 36 3732 c.3690G>A c.(3688-3690)ctG>ctA p.L1230L FANCA_uc010vpn.1_Silent_p.L1230L|FANCA_uc010vpo.2_Silent_p.L316L NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 1230 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TCGCAAAGTGCAGTGCAGCAG 0.537000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 63 57 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844436 215844436 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:215844436C>T uc001hku.1 - 63 14398 c.14011G>A c.(14011-14013)Gaa>Aaa p.E4671K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4671 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTATAATTCGTAATACAAA 0.418000 HNSCC(13;0.011) 45 33 0 0 1 0 0 IRGQ 126298 broad.mit.edu 37 19 44097263 44097263 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:44097263G>A uc002oww.2 - 1 905 c.787C>T c.(787-789)Ccc>Tcc p.P263S IRGQ_uc010eiv.2_Missense_Mutation_p.P263S NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA. 263 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GCTGGGAAGGGAGTGGGTGCT 0.692000 13 13 0 0 1 0 0 EIF2C4 192670 broad.mit.edu 37 1 36306984 36306984 + Missense_Mutation SNP T C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:36306984T>C uc001bzj.2 + 13 2133 c.1943T>C c.(1942-1944)gTt>gCt p.V648A NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 648 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTAACATGGTTCGAGAGCTG 0.522000 91 3 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707705 75707705 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:75707705C>T uc010oqz.1 - 7 696 c.630G>A c.(628-630)gcG>gcA p.A210A SLC44A5_uc001dgt.2_Silent_p.A171A|SLC44A5_uc001dgs.2_Silent_p.A129A|SLC44A5_uc001dgr.2_Silent_p.A129A|SLC44A5_uc001dgu.3_Silent_p.A171A|SLC44A5_uc010ora.2_Silent_p.A165A|SLC44A5_uc010orb.2_Silent_p.A41A NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 171 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGGGAAAAATCGCTGTTGGAC 0.353000 54 18 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278789 47278789 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:47278789G>A uc002pfs.3 - 7 2224 c.1604C>T c.(1603-1605)tCt>tTt p.S535F SLC1A5_uc010xyh.2_Missense_Mutation_p.S333F|SLC1A5_uc002pfq.3_Missense_Mutation_p.S359F|SLC1A5_uc002pfr.3_Missense_Mutation_p.S307F NM_005628 NP_001138616 Q15758 AAAT_HUMAN Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA. 535 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TTCCTTCTCAGAGGCGACCGT 0.587000 87 91 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 169053734 169053734 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:169053734G>A uc003qwr.2 + 10 1364 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K SMOC2_uc003qws.2_Missense_Mutation_p.E371K|SMOC2_uc011egu.2_Missense_Mutation_p.E48K NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA. 371 EF-hand 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CGGCAAAAAGGAAATCAAACC 0.443000 44 42 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7522093 7522093 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:7522093G>A uc010sge.2 - 14 3955 c.3929C>T c.(3928-3930)tCg>tTg p.S1310L CD163L1_uc001qsy.3_Missense_Mutation_p.S1300L NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1300 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTGGCCAAACGAAGCGTCCCT 0.587000 65 65 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43411173 43411173 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:43411173G>A uc002ovj.1 - 4 1240 c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.P221S|PSG4_uc002ovg.1_Missense_Mutation_p.P381S NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 382 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GTAATTTGGGGGATAAAGAGC 0.453000 369 143 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79525461 79525461 + Nonsense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:79525461C>T uc003hld.3 + 11 1130 c.820C>T c.(820-822)Cga>Tga p.R274* NM_005139 NP_005130 P12429 ANXA3_HUMAN Homo sapiens annexin A3 (ANXA3), mRNA. 274 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TACTCTGAACCGAATAATGGT 0.368000 31 44 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131104255 131104255 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:131104255G>A uc003yta.2 - 24 2764 c.2536C>T c.(2536-2538)Cct>Tct p.P846S ASAP1_uc003ysz.2_Missense_Mutation_p.P657S|ASAP1_uc011liw.2_Missense_Mutation_p.P839S NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 846 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GGCCCATGAGGTAGTGGGCTG 0.617000 105 72 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48683676 48683676 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:48683676G>A uc003cuf.1 - 23 7520 c.7520C>T c.(7519-7521)cCc>cTc p.P2507L CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.P420L|CELSR3_uc003cul.3_Missense_Mutation_p.P2437L|CELSR3_uc021wxq.1_5'Flank NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 2437 GPS. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTTCATGACGGGGTTCTGAGG 0.612000 35 21 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890693 15890693 + RNA SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:15890693C>T uc002nbo.3 - 0 c.106G>A Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. CTGCCCGAGGCCCAGCCAGGA 0.667000 17 16 0 0 1 0 0 FAM182B 728882 broad.mit.edu 37 20 25848606 25848606 + RNA SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:25848606G>A uc002wvd.1 - 0 c.181C>T Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA. lung(1) 1 atcaccgtccgggcaggcctg 0.672000 9 6 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612737 20612737 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:20612737G>A uc010tla.2 + 0 843 c.843G>A c.(841-843)ttG>ttA p.L281L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCTTTCCTTTGATGAACCCTG 0.408000 50 52 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15920413 15920413 + Missense_Mutation SNP T C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:15920413T>C uc011lmu.2 + 23 3881 c.3770T>C c.(3769-3771)tTa>tCa p.L1257S CCDC171_uc003zmd.3_Missense_Mutation_p.L1249S|CCDC171_uc003zme.3_Missense_Mutation_p.L1164S NM_173550 NP_775821 Q6TFL3 CI093_HUMAN Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA. 1249 AATGCAAGTTTACAATCAGTA 0.313000 1 19 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97869149 97869149 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:97869149G>A uc003dsg.1 + 0 920 c.920G>A c.(919-921)aGa>aAa p.R307K NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGTTCAAAAGAAATGATGTT 0.303000 5 11 0 0 1 0 0 SLC16A11 162515 broad.mit.edu 37 17 6945575 6945575 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:6945575G>A uc002gei.1 - 2 1264 c.926C>T c.(925-927)cCg>cTg p.P309L NM_153357 NP_699188 Q8NCK7 MOT11_HUMAN Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA. 309 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 CAGCAGCCGCGGGAGGGGCAC 0.741000 0 5 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117630061 117630061 + Missense_Mutation SNP T A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:117630061T>A uc003pxp.1 - 40 6664 c.6465A>T c.(6463-6465)ttA>ttT p.L2155F ROS1_uc011ebi.1_Non-coding_Transcript NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2155 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GACCAAGAGTTAAAATCTCCC 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 23 17 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173322660 173322660 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:173322660G>A uc021xhm.1 + 0 592 c.272G>A c.(271-273)gGg>gAg p.G91E NLGN1_uc003fio.1_Missense_Mutation_p.G91E|NLGN1_uc010hww.1_Missense_Mutation_p.G91E|NLGN1_uc003fip.1_Missense_Mutation_p.G91E NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN Homo sapiens neuroligin 1 (NLGN1), mRNA. 91 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCACCAACAGGGGAACGTCGT 0.448000 67 44 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41743950 41743950 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:41743950G>A uc010ehj.3 + 6 1075 c.885G>A c.(883-885)cgG>cgA p.R295R AXL_uc010ehi.1_Silent_p.R295R|AXL_uc010ehk.3_Silent_p.R295R NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 295 Fibronectin type-III 1. R -> W (in a lung neuroendocrine carcinoma sample; somatic mutation). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R295W(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ATCAGCTTCGGCTAGGCAGCC 0.647000 111 136 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23110990 23110990 + Missense_Mutation SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:23110990A>T uc009vqj.1 + 2 377 c.232A>T c.(232-234)Atc>Ttc p.I78F EPHB2_uc001bge.3_Missense_Mutation_p.I78F|EPHB2_uc001bgf.3_Missense_Mutation_p.I78F|EPHB2_uc010odu.2_Missense_Mutation_p.I78F NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 78 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GACCAAGTTTATCCGGCGCCG 0.577000 26 15 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36992676 36992676 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:36992676G>A uc002xic.1 + 6 735 c.700G>A c.(700-702)Gaa>Aaa p.E234K NM_004139 NP_004130 P18428 LBP_HUMAN Homo sapiens lipopolysaccharide binding protein (LBP), mRNA. 234 Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TAGCTTAGTGGAAGCCCCTCG 0.547000 39 35 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656659 40656659 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:40656659C>T uc002rrx.3 - 0 786 c.762G>A c.(760-762)agG>agA p.R254R SLC8A1_uc002rry.3_Silent_p.R254R|SLC8A1_uc002rsb.2_Silent_p.R254R|SLC8A1_uc002rrz.3_Silent_p.R254R|SLC8A1_uc002rsa.3_Silent_p.R254R|SLC8A1_uc002rsd.4_Silent_p.R254R|SLC8A1_uc010fan.1_Silent_p.R254R|SLC8A1_uc002rsc.1_Silent_p.R254R NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 254 Calmodulin-binding (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.D253N(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACAGAAGTCTCCTATCCGCTA 0.453000 49 49 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25313734 25313734 + Nonsense_Mutation SNP C T T rs139395919 by1000genomes TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:25313734C>T uc001isi.4 + 2 1911 c.1582C>T c.(1582-1584)Cga>Tga p.R528* ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Nonsense_Mutation_p.R528* NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA. 528 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AATCCCGATTCGAAAATTTAT 0.363000 51 28 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49031358 49031358 + Nonsense_Mutation SNP G T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:49031358G>T uc001zwz.3 - 26 4414 c.4221C>A c.(4219-4221)tgC>tgA p.C1407* CEP152_uc001zwy.3_Nonsense_Mutation_p.C1351* NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 1351 G2/M transition of mitotic cell cycle|centrosome duplication centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GAGCTTGTTCGCACAGAGTTC 0.388000 51 39 1.30475e-32 1.32178e-32 1 1 0 ATG9B 285973 broad.mit.edu 37 7 150715110 150715110 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:150715110G>A uc011kvc.2 - 7 1976 c.1900C>T c.(1900-1902)Ccg>Tcg p.P634S ATG9B_uc003wig.4_Non-coding_Transcript NM_173681 NP_775952 Q674R7 ATG9B_HUMAN Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA. 634 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGAGGAGCGGGGACAGGAGC 0.617000 OREG0018444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 4 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656173 167656173 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:167656173C>T uc011cjq.1 - 9 1294 c.1237G>A c.(1237-1239)Gat>Aat p.D413N SPOCK3_uc021xuf.1_Missense_Mutation_p.D404N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D284N|SPOCK3_uc003iri.1_Missense_Mutation_p.D404N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D353N|SPOCK3_uc003irj.1_Missense_Mutation_p.D401N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D312N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D361N|SPOCK3_uc011cju.1_Missense_Mutation_p.D308N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D306N NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 404 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) tcgtcttcatcatcctcatca 0.353000 19 7 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130230109 130230109 + Splice_Site SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:130230109G>A uc004brb.2 + 10 991 c.619_splice c.e10+1 p.E207_splice LRSAM1_uc010mxk.2_Splice_Site_p.E207_splice|LRSAM1_uc004brc.2_Splice_Site_p.E207_splice|LRSAM1_uc004brd.2_Splice_Site_p.E207_splice NM_001005373 NP_612370 Q6UWE0 LRSM1_HUMAN Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA. 207 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CCTCTGCAAAGGTAAAGCCAG 0.632000 12 5 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621867 99621867 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:99621867C>T uc003usk.1 + 2 736 c.517C>T c.(517-519)Cac>Tac p.H173Y ZKSCAN1_uc003usj.3_Missense_Mutation_p.H172Y|ZKSCAN1_uc003usl.1_Missense_Mutation_p.H137Y|ZKSCAN1_uc003usm.1_Intron NM_003439 NP_003430 P17029 ZKSC1_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA. 173 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGACCTTCATCACGAGGCCAC 0.532000 49 31 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625237 142625237 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:142625237G>A uc003wby.1 - 6 1119 c.855C>T c.(853-855)tcC>tcT p.S285S TRPV5_uc003wbz.3_Silent_p.S285S NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 285 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCTCTCCCCAGGAGTCGATCT 0.542000 53 36 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759103 6759103 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:6759103C>T uc002wmu.1 + 2 1343 c.558C>T c.(556-558)ttC>ttT p.F186F NM_001200 NP_001191 P12643 BMP2_HUMAN Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. 186 BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ACTCGAAATTCCCCGTGACCA 0.458000 34 30 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62996983 62996983 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:62996983G>A uc001nwr.1 - 0 142 c.142C>T c.(142-144)Cgc>Tgc p.R48C SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R48C NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 48 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ACCCAGCAGCGATGATCAAGT 0.468000 64 18 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070067 9070067 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:9070067G>A uc002mkp.3 - 2 17583 c.17379C>T c.(17377-17379)atC>atT p.I5793I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5795 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 TCACAGTGTTGATCTCCTCAG 0.458000 30 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432386 179432386 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179432386C>T uc021vsy.1 - 274 70994 c.70769G>A c.(70768-70770)aGa>aAa p.R23590K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17285K|TTN_uc021vta.1_Missense_Mutation_p.R17218K|TTN_uc021vtb.1_Missense_Mutation_p.R17093K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24517 Fibronectin type-III 71. 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) GAATTCATATCTTTGATCTTC 0.408000 28 21 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305839 39305839 + Missense_Mutation SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:39305839A>T uc002hwb.3 - 0 216 c.181T>A c.(181-183)Tgc>Agc p.C61S NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA. 61 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgcagcagctaggg 0.667000 52 3 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129914209 129914209 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:129914209G>A uc001lke.3 - 6 658 c.463C>T c.(463-465)Cct>Tct p.P155S MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 155 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTACCTGAGGATTTCCTGAA 0.383000 45 30 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44561409 44561409 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:44561409G>A uc003tlb.3 - 11 2911 c.2855C>T c.(2854-2856)tCc>tTc p.S952F NPC1L1_uc011kbw.2_Missense_Mutation_p.S906F|NPC1L1_uc003tlc.3_Missense_Mutation_p.S952F|NPC1L1_uc003tla.3_5'Flank NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 952 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ATCCACCCAGGAGGAGGCAGG 0.607000 34 28 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13415253 13415253 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:13415253C>T uc003bxv.1 - 11 1635 c.1552G>A c.(1552-1554)Gat>Aat p.D518N NUP210_uc003bxx.3_Missense_Mutation_p.D190N NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 518 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TTCTGCACATCATGTGCCTGG 0.582000 41 43 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128870751 128870752 + Missense_Mutation DNP GG AA AA TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:128870751_128870752GG>AA uc002tps.3 + 5 793_794 c.615_616GG>AA c.(613-618)gaggaa>gaAAaa p.E206K UGGT1_uc010fme.1_Missense_Mutation_p.E81K|UGGT1_uc002tpr.3_Missense_Mutation_p.E182K NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA. 206 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TTGGCTCTGAGGAATTTTCCAA 0.351000 45 30 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88652175 88652175 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:88652175C>T uc001xwm.3 - 6 1458 c.1336G>A c.(1336-1338)Gac>Aac p.D446N KCNK10_uc001xwn.3_Missense_Mutation_p.D446N|KCNK10_uc001xwo.3_Missense_Mutation_p.D441N NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 441 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 ATGATGTTGTCCTCGGACGCA 0.547000 65 58 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092728 151092728 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:151092728C>T uc022cgv.1 + 0 592 c.592C>T c.(592-594)Ccc>Tcc p.P198S MAGEA4_uc004fez.3_Missense_Mutation_p.P198S|MAGEA4_uc004ffa.3_Missense_Mutation_p.P198S|MAGEA4_uc004ffb.3_Missense_Mutation_p.P198S|MAGEA4_uc022cgu.1_Missense_Mutation_p.P226S|MAGEA4_uc004ffc.3_Missense_Mutation_p.P198S|MAGEA4_uc004ffd.3_Missense_Mutation_p.P198S NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 198 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCAGATCTTTCCCAAGACAGG 0.557000 1 72 0 0 1 0 0 SYF2 25949 broad.mit.edu 37 1 25555608 25555608 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:25555608C>T uc001bjt.1 - 2 194 c.139G>A c.(139-141)Gct>Act p.A47T SYF2_uc001bju.1_Intron|SYF2_uc010oeo.1_Missense_Mutation_p.A47T NM_015484 NP_056299 O95926 SYF2_HUMAN Homo sapiens SYF2 homolog, RNA splicing factor (S. cerevisiae) (SYF2), transcript variant 1, mRNA. 47 catalytic step 2 spliceosome p.E46A(1) kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) AATTTACGAGCTTCATTCTAA 0.383000 39 29 0 0 1 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41442375 41442375 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:41442375G>A uc010ehg.1 + 2 421 c.413G>A c.(412-414)gGa>gAa p.G138E CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G138E|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TTCGGGATGGGAAAGCGGAGT 0.552000 18 16 0 0 1 0 0 TRIM61 391712 broad.mit.edu 37 4 165891000 165891000 + Missense_Mutation SNP G A A rs142627348 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:165891000G>A uc003iqw.3 - 2 766 c.155C>T c.(154-156)cCc>cTc p.P52L NM_001012414 NP_001012414 Q5EBN2 TRI61_HUMAN Homo sapiens tripartite motif containing 61 (TRIM61), mRNA. 52 intracellular zinc ion binding p.P52L(2) NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) AAAGGGGCAGGGGAAACTATC 0.453000 52 12 0 0 1 0 0 WFDC11 259239 broad.mit.edu 37 20 44278037 44278037 + Splice_Site SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:44278037C>T uc002xpa.3 - 4 296 c.101_splice c.e4-1 p.R34_splice NM_147197 NP_671730 Q8NEX6 WFD11_HUMAN Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA. 34 extracellular region endometrium(1)|lung(4) 5 Myeloproliferative disorder(115;0.0122) ACAATTCCTTCCCTGAAATTG 0.388000 72 54 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:112608394T>C uc002thi.3 - 13 1856 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 537 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 p.T537A(10) 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 GGCTTTGGAGTACTAACGCCA 0.433000 103 3 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12832255 12832255 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:12832255G>A uc002gnr.4 + 6 801 c.474G>A c.(472-474)caG>caA p.Q158Q ARHGAP44_uc010vvk.2_Silent_p.Q158Q|ARHGAP44_uc010vvl.2_Silent_p.Q158Q|ARHGAP44_uc002gns.4_Intron|ARHGAP44_uc010vvm.2_Silent_p.Q158Q|ARHGAP44_uc010vvn.2_Non-coding_Transcript NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 158 BAR. 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 GGTGGCAGCAGACTTCCAAGT 0.512000 0 9 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44181842 44181842 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:44181842G>A uc002xow.3 - 4 598 c.519C>T c.(517-519)atC>atT p.I173I WFDC8_uc002xox.3_Silent_p.I173I NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 173 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GGGGACAATCGATGTCACTGT 0.463000 40 43 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48677985 48677985 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:48677985C>T uc003cuf.1 - 35 9327 c.9327G>A c.(9325-9327)ctG>ctA p.L3109L CELSR3_uc010hkf.3_Silent_p.L301L|CELSR3_uc010hkg.3_Silent_p.L994L|CELSR3_uc003cul.3_Silent_p.L3011L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 3011 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCGGTTCTTCAGGATGCCTG 0.627000 8 7 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012721 189012721 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:189012721G>A uc011cle.1 - 7 1417 c.1195C>T c.(1195-1197)Ctt>Ttt p.L399F TRIML2_uc003izj.1_Missense_Mutation_p.L152F|TRIML2_uc003izk.1_Missense_Mutation_p.L132F|TRIML2_uc003izl.2_Missense_Mutation_p.L324F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 324 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TCGCAGTCAAGGAAAACGCCA 0.532000 105 41 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112302 154112302 + Silent SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:154112302A>G uc001fdw.3 - 4 765 c.693T>C c.(691-693)gtT>gtC p.V231V NUP210L_uc010peh.2_Silent_p.V231V NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 231 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATGAATTCGAACTTTTACAA 0.363000 156 159 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670529 134670529 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:134670529C>T uc003eqt.3 + 2 815 c.440C>T c.(439-441)tCc>tTc p.S147F EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.S147F NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 147 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAGAGCTTCTCCCAGGTGGAC 0.493000 80 60 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43547627 43547627 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:43547627C>T uc003tid.1 + 22 4368 c.3763C>T c.(3763-3765)Cgc>Tgc p.R1255C HECW1_uc011kbi.1_Missense_Mutation_p.R1221C NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 1255 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCTCATTATTCGCCGGGATCA 0.517000 39 27 0 0 1 0 0 ELMOD3 84173 broad.mit.edu 37 2 85598616 85598616 + Missense_Mutation SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:85598616A>G uc010ysn.2 + 7 880 c.538A>G c.(538-540)Aag>Gag p.K180E ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spf.4_Missense_Mutation_p.K180E|ELMOD3_uc002spg.4_Missense_Mutation_p.K180E|ELMOD3_uc002sph.4_Missense_Mutation_p.K180E|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Intron NM_032213 NP_115589 Q96FG2 ELMD3_HUMAN Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA. 180 ELMO. phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 GACCATCTATAAGAAGCTGAC 0.552000 45 37 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48137388 48137388 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:48137388C>T uc001rpz.4 - 17 2300 c.1750G>A c.(1750-1752)Gag>Aag p.E584K RAPGEF3_uc001rpw.3_5'Flank|RAPGEF3_uc001rpx.3_5'UTR|RAPGEF3_uc010sln.2_Intron|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.E542K|RAPGEF3_uc009zkq.3_Missense_Mutation_p.E542K NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 542 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GCCATCACCTCTCTCACGGAG 0.607000 64 42 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216348630 216348630 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:216348630G>A uc001hku.1 - 20 4978 c.4591C>T c.(4591-4593)Ccc>Tcc p.P1531S USH2A_uc001hkv.3_Missense_Mutation_p.P1531S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1531 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P1531L(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGGAGCTGGGAAATTTACAA 0.403000 HNSCC(13;0.011) 18 14 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6459558 6459558 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:6459558G>A uc002mex.1 - 0 224 c.82C>T c.(82-84)Cgc>Tgc p.R28C SLC25A23_uc002mev.3_Non-coding_Transcript NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA. 28 EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ACGTCCACGCGGCCATCCTTG 0.756000 39 37 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118969160 118969160 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:118969160G>A uc001pvi.3 - 4 1101 c.681C>T c.(679-681)ttC>ttT p.F227F H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Silent_p.F120F|DPAGT1_uc001pvk.3_Silent_p.F55F|DPAGT1_uc001pvm.1_Silent_p.F120F|DPAGT1_uc010rza.2_Silent_p.F120F NM_001382 NP_001373 Q9H3H5 GPT_HUMAN Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA. 227 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups p.F227F(2) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGGGTATCATGAAGTAGAGGG 0.443000 58 30 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170346460 170346460 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:170346460C>T uc003mba.3 + 10 1259 c.1117C>T c.(1117-1119)Cct>Tct p.P373S RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 373 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGAATTTGCTCCTAACAGTGT 0.323000 T TRD@ ALL 31 27 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653314 55653314 + Splice_Site SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:55653314G>A uc010rip.2 + 2 503 c.411_splice c.e2+1 p.R137_splice TRIM51_uc010riq.2_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 137 intracellular zinc ion binding GAGGAACGCCGGGTAAGTGAT 0.488000 13 12 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21049315 21049315 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:21049315C>T uc009vpy.1 - 8 1504 c.1002G>A c.(1000-1002)gtG>gtA p.V334V SH2D5_uc001bdt.1_Silent_p.V250V|SH2D5_uc001bdu.1_Non-coding_Transcript NM_001103161 NP_001096630 Q6ZV89 SH2D5_HUMAN Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA. 250 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACTGCGTGCGCACGGACAGAC 0.692000 7 3 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3653743 3653743 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:3653743G>A uc002fwo.4 - 15 2026 c.1927C>T c.(1927-1929)Cag>Tag p.Q643* NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 643 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CCGAAGTACTGGAGTCCTGGG 0.627000 2 29 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94564545 94564545 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:94564545G>A uc001dqh.3 - 5 677 c.573C>T c.(571-573)ttC>ttT p.F191F ABCA4_uc010otn.1_Silent_p.F191F NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 191 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) CTCCATGAGCGAACTGCAGGG 0.587000 14 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587872 179587872 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179587872C>T uc021vsy.1 - 71 18355 c.18130G>A c.(18130-18132)Gaa>Aaa p.E6044K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2705K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6971 Ig-like 41. 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) TTCAGAATTTCCAGGATACAA 0.393000 11 6 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577107 158577107 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:158577107G>A uc010pio.2 + 0 879 c.879G>A c.(877-879)agG>agA p.R293R NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L292I(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATAGTCTAAGGAATAGGGCTA 0.463000 111 104 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28914025 28914025 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr18:28914025G>A uc002kwp.3 + 7 1077 c.865G>A c.(865-867)Gag>Aag p.E289K NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 289 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AAATTTGCTCGAGATTAGAGT 0.328000 52 24 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769633 50769633 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:50769633G>A uc002xwl.3 - 5 1447 c.1098C>T c.(1096-1098)tgC>tgT p.C366C ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.C364C|ZFP64_uc002xwn.3_Silent_p.C312C NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA. 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGCGGTCGGTGCAGTGGATAC 0.577000 78 73 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011768 34011768 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:34011768C>T uc001bxm.1 - 56 9146 c.8969G>A c.(8968-8970)cGt>cAt p.R2990H CSMD2_uc001bxn.1_Missense_Mutation_p.R2846H NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2963 Sushi 22. integral to membrane|plasma membrane protein binding p.R2846H(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCCCCCAAACGGATGCCATG 0.567000 27 19 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19209609 19209609 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:19209609G>A uc021wle.1 - 15 2501 c.2426C>T c.(2425-2427)cCt>cTt p.P809L CLTCL1_uc021wld.1_Missense_Mutation_p.P809L|CLTCL1_uc021wlc.1_Missense_Mutation_p.P809L|CLTCL1_uc021wlf.1_Missense_Mutation_p.P809L|CLTCL1_uc011agw.1_Missense_Mutation_p.P809L NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 809 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GGTCCGGCTAGGGTTGACCTA 0.473000 T ? ALCL 115 92 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43011351 43011351 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:43011351G>A uc003otq.3 - 16 3522 c.3190C>T c.(3190-3192)Ccc>Tcc p.P1064S CUL7_uc010jyg.3_Missense_Mutation_p.P343S|CUL7_uc011dvb.2_Missense_Mutation_p.P1148S|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA. 1064 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAACCCAGGGGGCTAATGCCA 0.587000 9 10 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190571836 190571836 + Missense_Mutation SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:190571836A>T uc002uqw.2 + 8 2171 c.2083A>T c.(2083-2085)Aat>Tat p.N695Y ANKAR_uc002uqu.3_Non-coding_Transcript NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 695 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) aataaaattaaatattCCTGA 0.289000 4 6 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100847495 100847495 + Nonsense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:100847495C>T uc003yiv.3 + 52 9871 c.9760C>T c.(9760-9762)Cga>Tga p.R3254* VPS13B_uc003yiw.3_Nonsense_Mutation_p.R3229* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3254 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCCTAGTCCTCGAGTAATTAT 0.343000 26 14 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566486 55566486 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:55566486C>T uc010qhq.2 - 34 5291 c.4896G>A c.(4894-4896)ctG>ctA p.L1632L PCDH15_uc010qhr.2_Silent_p.L1627L NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.A1631V(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) CTGTGCTTTTCAGCCTGTTCC 0.443000 HNSCC(58;0.16) 74 94 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32948438 32948438 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:32948438C>T uc010juh.3 + 12 3758 c.2454C>T c.(2452-2454)tcC>tcT p.S818S BRD2_uc003ocn.4_Silent_p.S783S|BRD2_uc003ocp.4_Silent_p.S663S|BRD2_uc003ocq.4_Silent_p.S783S|BRD2_uc021ywf.1_Silent_p.S736S NM_001199455 NP_001186384 P25440 BRD2_HUMAN Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA. 783 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GCTCAGATTCCAGCTCCTCCT 0.552000 45 38 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140337 178140337 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:178140337G>A uc003mjj.3 - 4 740 c.542C>T c.(541-543)cCc>cTc p.P181L NM_005649 NP_005640 O60765 Z354A_HUMAN Homo sapiens zinc finger protein 354A (ZNF354A), mRNA. 181 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTTTTCTCTGGGAAGTATCTG 0.358000 112 84 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 823261 823261 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:823261G>A uc002cjz.1 - 9 2007 c.2007C>T c.(2005-2007)ttC>ttT p.F669F NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 318 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 AGTGCACCAGGAAGAGGTCGT 0.647000 57 44 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185330413 185330413 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:185330413G>A uc003fpn.3 + 8 1007 c.836G>A c.(835-837)aGg>aAg p.R279K SENP2_uc011brv.2_Missense_Mutation_p.R269K|SENP2_uc011brw.2_Missense_Mutation_p.R92K NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 279 Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GTTGAAACAAGGGGACCTCTA 0.308000 13 15 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578530 7578530 + Missense_Mutation SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:7578530A>G uc002gim.2 - 4 594 c.400T>C c.(400-402)Ttt>Ctt p.F134L TP53_uc002gig.1_Missense_Mutation_p.F134L|TP53_uc002gih.3_Missense_Mutation_p.F134L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F2L|TP53_uc010cnf.1_Missense_Mutation_p.F2L|TP53_uc002gii.1_Missense_Mutation_p.F2L|TP53_uc010cni.1_Missense_Mutation_p.F134L|TP53_uc010cnh.1_Missense_Mutation_p.F134L|TP53_uc002gij.2_Missense_Mutation_p.F134L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.F41L|TP53_uc002gio.2_Missense_Mutation_p.F2L|TP53_uc010vug.2_Missense_Mutation_p.F95L NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 134 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F134L(33)|p.F134V(22)|p.M133K(12)|p.0?(8)|p.F134C(6)|p.M133R(5)|p.C135fs*35(5)|p.M133fs*37(4)|p.M133fs*36(4)|p.M133I(3)|p.F134S(3)|p.K132_A138delKMFCQLA(2)|p.M133T(2)|p.M133V(2)|p.N131fs*27(2)|p.M133fs*13(2)|p.S127_Q136del10(2)|p.M133L(2)|p.F134fs*39(2)|p.F134F(1)|p.F134_T140>S(1)|p.F41V(1)|p.C135T(1)|p.F41L(1)|p.V73fs*9(1)|p.Y126fs*11(1)|p.L130_M133delLNKM(1)|p.F2V(1)|p.?(1)|p.K132_M133del(1)|p.M133fs*16(1)|p.F2L(1)|p.F134fs*14(1)|p.S127fs*36(1)|p.M40fs*36(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGTTGGCAAAACATCTTGTTG 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 1 17 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189611994 189611994 + Splice_Site SNP G A A rs113056519 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:189611994G>A uc003fry.2 + 14 1836 c.1747_splice c.e14-1 p.D583_splice TP63_uc003frz.2_Splice_Site_p.R551_splice|TP63_uc010hzc.1_Splice_Site_p.R503_splice|TP63_uc003fsc.2_Splice_Site_p.D489_splice|TP63_uc003fsd.2_Splice_Site_p.R457_splice|TP63_uc021xir.1_Splice_Site_p.R409_splice|TP63_uc010hzd.1_Splice_Site_p.D404_splice NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 583 SAM. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 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) CTGTTGCACAGGATCTGGCAA 0.493000 HNSCC(45;0.13) 26 32 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886782 55886782 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:55886782C>T uc010spo.2 + 0 636 c.636C>T c.(634-636)atC>atT p.I212I NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 CCTTTATTATCACTCTTGTAT 0.348000 14 10 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676334 113676334 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:113676334C>T uc002tij.3 + 4 647 c.605C>T c.(604-606)tCa>tTa p.S202L IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 202 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ATTGAATTTTCATTTCAACCA 0.458000 47 19 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367117 105367117 + Nonsense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:105367117C>T uc003ylx.1 + 2 1091 c.1042C>T c.(1042-1044)Caa>Taa p.Q348* NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 348 osteoclast differentiation cell surface|integral to membrane|plasma membrane ACAAGGAACTCAAGATATTAT 0.368000 11 9 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101652 168101652 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:168101652G>A uc002udx.3 + 8 3839 c.3750G>A c.(3748-3750)aaG>aaA p.K1250K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K1075K|XIRP2_uc010fpq.3_Silent_p.K1028K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1075 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAATTGATAAGATAAAAGAAA 0.338000 28 29 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091511 74091511 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr18:74091511G>A uc021ulp.1 - 3 2877 c.2559C>T c.(2557-2559)ccC>ccT p.P853P ZNF516_uc002lmd.3_Non-coding_Transcript NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P853L(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCACTCCCAGGGGAGAAGAGC 0.627000 81 47 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7572147 7572147 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:7572147G>A uc003mxp.1 + 14 2255 c.1976G>A c.(1975-1977)aGa>aAa p.R659K DSP_uc003mxq.1_Missense_Mutation_p.R659K|DSP_uc021yle.1_Missense_Mutation_p.R659K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 659 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAACCAACAGAGAAAATGAC 0.433000 45 41 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45661694 45661694 + Missense_Mutation SNP G A A rs147804855 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:45661694G>A uc001zvc.3 - 2 643 c.314C>T c.(313-315)cCa>cTa p.P105L GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.P158L NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 105 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CTGGTAAAATGGCCAGTACTT 0.363000 19 12 0 0 1 0 0 TIPIN 54962 broad.mit.edu 37 15 66641432 66641432 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:66641432G>A uc002apr.2 - 5 527 c.441C>T c.(439-441)ctC>ctT p.L147L TIPIN_uc010ujn.1_Silent_p.L46L|TIPIN_uc010ujo.1_Silent_p.L46L|SCARNA14_uc010bhp.1_5'Flank NM_017858 NP_060328 Q9BVW5 TIPIN_HUMAN Homo sapiens TIMELESS interacting protein (TIPIN), mRNA. 147 DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 GTAAAATAGGGAGATCAAGTC 0.303000 16 5 0 0 1 0 0 FLJ00285 0 broad.mit.edu 37 16 15204364 15204364 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:15204364G>A uc002ddh.2 - 12 2407 c.2015C>T c.(2014-2016)aCc>aTc p.T672I PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285; TCGAACCTTGGTTTCCACCTG 0.393000 79 58 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49656898 49656898 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:49656898C>T uc002pmv.3 - 0 1784 c.1597G>A c.(1597-1599)Gag>Aag p.E533K NM_002152 NP_002143 P23327 SRCH_HUMAN Homo sapiens histidine rich calcium binding protein (HRC), mRNA. 533 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) tcttcctcctcctGGTTCAGG 0.587000 14 12 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110370892 110370892 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:110370892G>A uc001tps.2 - 19 2336 c.2171C>T c.(2170-2172)tCa>tTa p.S724L TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Missense_Mutation_p.S694L|GIT2_uc001tpv.2_Missense_Mutation_p.S646L|GIT2_uc001tpu.2_Missense_Mutation_p.S644L|GIT2_uc001tpt.2_Missense_Mutation_p.S596L|GIT2_uc010sxu.1_Missense_Mutation_p.S632L NM_057169 NP_476510 Q14161 GIT2_HUMAN Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA. 724 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 GTCTGTGGGTGAGCCGGGGTc 0.577000 15 22 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607989 68607989 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:68607989G>A uc002sen.4 + 2 495 c.333G>A c.(331-333)agG>agA p.R111R PLEK_uc010fde.3_Silent_p.R111R NM_002664 NP_002655 P08567 PLEK_HUMAN Homo sapiens pleckstrin (PLEK), mRNA. 111 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding p.A110D(1)|p.A110T(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AATTTGCCAGGAAATCTACCA 0.463000 84 63 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140992371 140992371 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:140992371C>T uc002tvj.1 - 89 14615 c.13643G>A c.(13642-13644)gGa>gAa p.G4548E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4548 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) agttagtggtcctttcaaatc 0.443000 TSP Lung(27;0.18) 21 9 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885791 88885791 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:88885791G>A uc003ydz.3 - 0 506 c.409C>T c.(409-411)Cac>Tac p.H137Y NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 137 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAATCCAAGTGATTCAGTGAG 0.567000 58 62 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940223 36940223 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:36940223G>A uc010xtf.2 - 4 1051 c.916C>T c.(916-918)Cat>Tat p.H306Y ZNF566_uc002oea.4_Missense_Mutation_p.H305Y|ZNF566_uc010xte.2_Missense_Mutation_p.H305Y|ZNF566_uc002oeb.4_Missense_Mutation_p.H305Y|ZNF566_uc002oec.4_Missense_Mutation_p.H201Y|ZNF566_uc010xtg.2_Missense_Mutation_p.H201Y NM_001145343 NP_001138815 Q969W8 ZN566_HUMAN Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA. 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TCCCCAGTATGAATTCTCTGA 0.408000 55 49 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2894600 2894600 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:2894600G>A uc010ckd.3 + 11 913 c.823G>A c.(823-825)Gag>Aag p.E275K RAP1GAP2_uc010cke.3_Missense_Mutation_p.E260K NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 275 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GACCCTGGAGGAGGAGCTATT 0.473000 0 4 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759756 196759756 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:196759756C>T uc002utj.4 - 29 4941 c.4840G>A c.(4840-4842)Gga>Aga p.G1614R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1614 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G1614R(2) 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 CTAGTTTTTCCTCCAAATGGT 0.318000 14 20 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90032355 90032355 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:90032355C>T uc002fpn.2 + 12 1656 c.1523C>T c.(1522-1524)cCc>cTc p.P508L DEF8_uc002fpo.2_Missense_Mutation_p.P447L|DEF8_uc002fpp.2_Missense_Mutation_p.P437L|DEF8_uc021tmv.1_Missense_Mutation_p.P447L|DEF8_uc010vpq.2_Missense_Mutation_p.P387L|DEF8_uc010vpr.2_Missense_Mutation_p.P430L|DEF8_uc002fpq.2_Missense_Mutation_p.P205L NM_207514 NP_001229746 Q6ZN54 DEFI8_HUMAN Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA. 508 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GAGCCAGGTCCCGATGTGGAG 0.637000 16 14 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394705 86394705 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:86394705G>A uc003uid.3 + 1 1343 c.244G>A c.(244-246)Gat>Aat p.D82N GRM3_uc010lef.3_Missense_Mutation_p.D80N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 82 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AATCAACAAAGATGATTACTT 0.443000 77 55 0 0 1 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148742246 148742246 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:148742246C>T uc003lqk.2 + 1 197 c.135C>T c.(133-135)ctC>ctT p.L45L PCYOX1L_uc003lql.2_Silent_p.L28L|PCYOX1L_uc010jgz.2_Silent_p.L28L|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_5'UTR NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA. 45 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCATTTTCTCCAGCAGCACT 0.587000 3 58 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219633 4219633 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:4219633G>A uc010dtt.1 + 18 3325 c.3049G>A c.(3049-3051)Gag>Aag p.E1017K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 1017 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) ACACGCAGCCGAGGCACAGCT 0.642000 82 59 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539219 56539219 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:56539219G>A uc002qmj.3 + 6 1620 c.1620G>A c.(1618-1620)tgG>tgA p.W540* NLRP5_uc002qmi.3_Nonsense_Mutation_p.W521* NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 540 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGGGAGTGTGGAATAGGAAGT 0.552000 16 16 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128922363 128922363 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:128922363C>T uc002tps.3 + 25 3063 c.2885C>T c.(2884-2886)cCa>cTa p.P962L UGGT1_uc010fme.1_Missense_Mutation_p.P837L|UGGT1_uc002tpr.3_Missense_Mutation_p.P938L NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA. 962 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AAAGGAGATCCAAGAATCGAG 0.368000 32 22 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26168438 26168438 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:26168438C>T uc003abz.1 + 6 2080 c.1830C>T c.(1828-1830)gtC>gtT p.V610V MYO18B_uc003aca.1_Silent_p.V491V|MYO18B_uc010guy.1_Silent_p.V491V|MYO18B_uc010guz.1_Silent_p.V491V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.V123V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 610 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 ATCTGATTGTCCTCCAGCCCC 0.637000 32 29 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 206992629 206992629 + Missense_Mutation SNP C A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:206992629C>A uc010ziq.2 - 15 1879 c.1818G>T c.(1816-1818)aaG>aaT p.K606N NDUFS1_uc002vbe.3_Missense_Mutation_p.K592N|NDUFS1_uc010zir.2_Missense_Mutation_p.K556N|NDUFS1_uc010zis.2_Missense_Mutation_p.K535N|NDUFS1_uc010zit.2_Missense_Mutation_p.K481N|NDUFS1_uc010ziu.2_Missense_Mutation_p.K476N NM_001199984 NP_001186913 P28331 NDUS1_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA. 592 ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) ATGTAGCAGACTTCTCTGTGT 0.458000 56 3 0.115264 0.115562 1 1 0 TMEM109 79073 broad.mit.edu 37 11 60689555 60689555 + Missense_Mutation SNP G C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:60689555G>C uc001nqg.3 + 3 1028 c.650G>C c.(649-651)cGa>cCa p.R217P TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank NM_024092 NP_076997 Q9BVC6 TM109_HUMAN Homo sapiens transmembrane protein 109 (TMEM109), mRNA. 217 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 GCCAAGGTGCGAGGGCTGGAA 0.706000 18 7 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34090782 34090782 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:34090782C>T uc021wco.1 + 29 5232 c.4585C>T c.(4585-4587)Cta>Tta p.L1529L CEP250_uc010zve.2_Silent_p.L897L NM_007186 NP_009117 Q9BV73 CP250_HUMAN Homo sapiens centrosomal protein 250kDa (CEP250), mRNA. 1529 Gln/Glu-rich. G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCATCAGCTTCTAGAACTTGA 0.522000 44 27 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78959017 78959017 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:78959017G>A uc001din.3 + 1 855 c.589G>A c.(589-591)Gaa>Aaa p.E197K PTGFR_uc001dim.3_Missense_Mutation_p.E197K NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 197 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CAAAGACTGGGAAGATAGATT 0.403000 27 46 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169455 113169455 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:113169455C>T uc010mtz.3 - 37 8762 c.8425G>A c.(8425-8427)Ggc>Agc p.G2809S SVEP1_uc010mty.3_Missense_Mutation_p.G735S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2809 Sushi 23. 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 CTCTCAGTGCCATTCAGCACA 0.488000 100 90 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161495526 161495526 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:161495526G>A uc001gaq.3 + 0 1491 c.1078G>A c.(1078-1080)Gag>Aag p.E360K TRNA_Gly_uc021pdc.1_5'Flank NM_002155 NP_002146 P17066 HSP76_HUMAN Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA. 360 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAACGGCAAGGAGCTGAACAA 0.577000 15 16 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 558970 558970 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:558970G>A uc001lpx.3 - 1 107 c.44C>T c.(43-45)tCg>tTg p.S15L AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA. 15 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCACTGACCGACTCTTGCTC 0.652000 0 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585769 179585769 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179585769G>A uc021vsy.1 - 75 19470 c.19245C>T c.(19243-19245)ttC>ttT p.F6415F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F3076F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7342 Ig-like 45. 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) CAGAATTAATGAATGACATGT 0.423000 48 29 0 0 1 0 0 VPS26A 9559 broad.mit.edu 37 10 70916829 70916829 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:70916829G>A uc001jpb.3 + 3 422 c.296G>A c.(295-297)gGa>gAa p.G99E VPS26A_uc001jpc.3_Missense_Mutation_p.G99E|VPS26A_uc009xqa.3_Missense_Mutation_p.G92E|VPS26A_uc001jpd.3_5'UTR NM_004896 NP_004887 O75436 VP26A_HUMAN Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA. 99 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GCCTTACCTGGAGAACTGACT 0.348000 38 11 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13692188 13692188 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:13692188C>T uc003jfd.2 - 78 13822 c.13780G>A c.(13780-13782)Gac>Aac p.D4594N DNAH5_uc003jfc.2_Missense_Mutation_p.D762N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4594 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) TAGTTCAAGTCCGTTCGAACT 0.463000 Kartagener syndrome 35 27 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4060651 4060651 + Missense_Mutation SNP A C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:4060651A>C uc003mvv.3 + 14 2916 c.2825A>C c.(2824-2826)aAa>aCa p.K942T PRPF4B_uc003mvw.3_Non-coding_Transcript|FAM217A_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript NM_003913 NP_003904 Q13523 PRP4B_HUMAN Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA. 942 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTTTAGGAGAAAGTTACTGTT 0.338000 22 18 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127911958 127911958 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:127911958G>A uc010mwv.3 - 7 1244 c.1023C>T c.(1021-1023)ttC>ttT p.F341F PPP6C_uc004bpg.4_Silent_p.F304F|PPP6C_uc010mww.3_Silent_p.F282F|PPP6C_uc011lzr.2_Silent_p.F157F NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 304 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GGCCTCAAAGGAAATATGGCG 0.418000 82 35 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302906 58302906 + Missense_Mutation SNP T A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:58302906T>A uc002aex.3 - 3 707 c.434A>T c.(433-435)aAa>aTa p.K145I ALDH1A2_uc010ugv.2_Missense_Mutation_p.K124I|ALDH1A2_uc002aey.3_Missense_Mutation_p.K145I|ALDH1A2_uc010ugw.2_Missense_Mutation_p.K116I|ALDH1A2_uc002aew.3_Missense_Mutation_p.K49I NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 145 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCGAAAGGTTTTGATGACGCC 0.423000 15 13 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599814 29599814 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:29599814G>A uc001usl.4 + 0 1067 c.1009G>A c.(1009-1011)Gcc>Acc p.A337T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 327 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGGAAAGGCAGCCCAGGAAGG 0.542000 37 29 0 0 1 0 0 HSPA7 3311 broad.mit.edu 37 1 161577159 161577159 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:161577159G>A uc010pkp.1 + 0 1311 c.1079G>A c.(1078-1080)gGa>gAa p.G360E Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA. CAACGGCAAGGAGCTGAACAA 0.572000 23 7 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134379613 134379613 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:134379613G>A uc004cav.3 + 1 210 c.8G>A c.(7-9)gGa>gAa p.G3E POMT1_uc011mci.1_Missense_Mutation_p.G3E|POMT1_uc004cax.3_Missense_Mutation_p.G3E|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Missense_Mutation_p.G3E|POMT1_uc004caw.3_Intron|POMT1_uc011mck.2_Intron|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Missense_Mutation_p.G3E NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. 3 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AAGATGTGGGGATTTTTGAAG 0.582000 OREG0019563 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 59 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133551267 133551267 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:133551267C>T uc004exj.3 + 8 1105 c.903C>T c.(901-903)taC>taT p.Y301Y PHF6_uc004exk.3_Silent_p.Y301Y|PHF6_uc011mvk.2_Silent_p.Y267Y|PHF6_uc004exi.3_Silent_p.Y302Y NM_001015877 NP_115834 Q8IWS0 PHF6_HUMAN Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA. 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding p.Y301fs*1(2)|p.Y301*(2)|p.T300A(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) TTAAGACTTACCATTACCACT 0.358000 """F, N, Splice, Mis""" ETP ALL 0 32 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720152 160720152 + Silent SNP C T T rs144271994 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:160720152C>T uc001fwq.3 + 3 723 c.708C>T c.(706-708)ctC>ctT p.L236L SLAMF7_uc010pjn.2_Silent_p.L142L|SLAMF7_uc001fws.3_Silent_p.L129L|SLAMF7_uc001fwr.3_Silent_p.L236L|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN Homo sapiens SLAM family member 7 (SLAMF7), mRNA. 236 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTGCCCCTCCTGCTCAGTC 0.502000 98 87 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232100035 232100035 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:232100035C>T uc002vrq.4 + 7 833 c.721C>T c.(721-723)Ctc>Ttc p.L241F ARMC9_uc002vrp.4_Missense_Mutation_p.L241F NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 241 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CTACCACAATCTCATTGGAGT 0.488000 30 23 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14105173 14105173 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:14105173G>A uc001avi.3 + 7 1739 c.883G>A c.(883-885)Gaa>Aaa p.E295K PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.E295K|PRDM2_uc021ogk.1_Missense_Mutation_p.E58K|PRDM2_uc001avk.3_Missense_Mutation_p.E94K|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 295 Asp/Glu-rich (acidic).|Retinoblastoma protein binding. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) cgagggggaagaagaAGCCAG 0.438000 25 22 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652489 1652489 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:1652489G>A uc002qxa.3 - 16 3127 c.3063C>T c.(3061-3063)atC>atT p.I1021I NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 1021 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCGCACCCACGATCTTCCTGG 0.617000 8 15 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139368510 139368510 + Silent SNP G C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:139368510G>C uc004chx.3 - 2 3867 c.3558C>G c.(3556-3558)ctC>ctG p.L1186L SEC16A_uc004chv.4_Silent_p.L576L|SEC16A_uc004chw.3_Silent_p.L1186L|SEC16A_uc010nbn.3_Silent_p.L1186L|SEC16A_uc010nbo.1_Silent_p.L1186L NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 1008 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCTGGTAATAGAGGGAGGCTG 0.522000 2 30 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778306 111778306 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:111778306G>A uc001eam.3 + 5 597 c.526G>A c.(526-528)Gaa>Aaa p.E176K CHI3L2_uc001ean.3_Missense_Mutation_p.E166K|CHI3L2_uc001eao.3_Missense_Mutation_p.E97K NM_004000 NP_001020370 Q15782 CH3L2_HUMAN Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA. 176 chitin catabolic process extracellular space cation binding|chitinase activity p.E176K(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) ATCCACCAAGGAAAGGCTTCT 0.448000 49 27 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59852045 59852045 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:59852045G>A uc003xtw.1 - 2 448 c.227C>T c.(226-228)cCt>cTt p.P76L NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 76 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) TGGGAGGGAAGGAGGAGTAAT 0.458000 45 31 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 898519 898519 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:898519G>A uc003gbm.4 - 4 630 c.431C>T c.(430-432)tCg>tTg p.S144L GAK_uc003gbn.4_Missense_Mutation_p.S65L|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.S8L NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 144 Protein kinase. S -> L. cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity p.S144L(2) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CGTGTCGCACGAAAGGGGGCC 0.552000 0 19 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134384356 134384356 + Missense_Mutation SNP C A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:134384356C>A uc004cav.3 + 5 688 c.486C>A c.(484-486)ttC>ttA p.F162L POMT1_uc011mci.1_Intron|POMT1_uc004cax.3_Missense_Mutation_p.F162L|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Missense_Mutation_p.F162L|POMT1_uc004caw.3_Missense_Mutation_p.F108L|POMT1_uc011mck.2_Missense_Mutation_p.F45L|POMT1_uc011mcl.2_Missense_Mutation_p.F10L|POMT1_uc011mcm.2_Missense_Mutation_p.F132L NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. 162 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TAATATTTTTCAATCTATTGG 0.393000 3 33 2.1956e-27 2.21847e-27 1 1 0 abParts 0 broad.mit.edu 37 14 106518643 106518644 + RNA DNP GG AA AA rs113025074 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:106518643_106518644GG>AA uc021ser.1 - 2195 c.39309_39310CC>TT Parts of antibodies, mostly variable regions. AGAGTCTCAGGGACCCCCCAGG 0.594000 116 96 0 0 1 0 0 OSGEP 55644 broad.mit.edu 37 14 20915794 20915794 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:20915794C>T uc001vxf.3 - 8 1274 c.849G>A c.(847-849)cgG>cgA p.R283R NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA. 283 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) TAGCAAAAAGCCGGGCTCCAC 0.433000 17 27 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501671 140501671 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140501671C>T uc003lip.1 + 0 91 c.91C>T c.(91-93)Cgt>Tgt p.R31C NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 31 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGCCTATTCGTTATTCTGT 0.527000 1 33 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192701266 192701266 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:192701266C>T uc002utb.3 - 1 1016 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 221 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TCCACCTTTTCCTCGGCACTG 0.483000 72 63 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272404 158272404 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:158272404C>T uc002tzj.1 - 7 937 c.865G>A c.(865-867)Gag>Aag p.E289K CYTIP_uc010zcl.1_Missense_Mutation_p.E183K NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 289 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TCATCCCCCTCCTTGGGGATA 0.542000 48 37 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725546 41725546 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:41725546C>T uc002yyq.1 - 4 1232 c.780G>A c.(778-780)aaG>aaA p.K260K DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 260 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCATGTTGTCCTTCAGCCAGC 0.582000 23 25 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143348 61143348 + RNA SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:61143348C>T uc002ycy.3 - 4 c.1333G>A C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA. AGGGCCCTCCCCTGGACAAGG 0.682000 13 12 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146271487 146271487 + Missense_Mutation SNP C A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:146271487C>A uc003qlf.3 - 3 1294 c.895G>T c.(895-897)Gca>Tca p.A299S SHPRH_uc003qle.3_Missense_Mutation_p.A299S|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.A188S NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 299 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGGATCAATGCAGGATGCTGG 0.463000 72 53 1.14385e-22 1.15277e-22 1 1 0 MLL 4297 broad.mit.edu 37 11 118362611 118362611 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:118362611C>T uc001pta.3 + 14 4986 c.4963C>T c.(4963-4965)Cgg>Tgg p.R1655W MLL_uc001ptb.3_Missense_Mutation_p.R1658W|MLL_uc001pte.1_Non-coding_Transcript NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 1655 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding p.S1654F(1) breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTTGAATTCTCGGACTACCAG 0.468000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 13 14 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3784181 3784181 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:3784181G>A uc002wjn.3 + 13 2265 c.1487G>A c.(1486-1488)cGc>cAc p.R496H CDC25B_uc010zqk.2_Missense_Mutation_p.R432H|CDC25B_uc010zql.2_Missense_Mutation_p.R418H|CDC25B_uc010zqm.2_Missense_Mutation_p.R405H|CDC25B_uc002wjl.3_Missense_Mutation_p.R384H|CDC25B_uc002wjm.3_Missense_Mutation_p.R384H|CDC25B_uc021waa.1_Missense_Mutation_p.R343H|CDC25B_uc002wjo.3_Missense_Mutation_p.R482H|CDC25B_uc002wjp.3_Missense_Mutation_p.R455H|CDC25B_uc002wjq.3_Missense_Mutation_p.R296H NM_021873 NP_068659 P30305 MPIP2_HUMAN Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA. 496 Rhodanese. G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 CGTGGGCCCCGCATGTGAGTC 0.612000 98 3 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601998 135601998 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:135601998C>T uc003lbn.2 - 4 1477 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K TRPC7_uc010jef.2_Missense_Mutation_p.E355K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.E358K|TRPC7_uc010jei.2_Missense_Mutation_p.E303K NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 419 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGAAGGTTTCGTTTGGCAGG 0.398000 3 49 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73829377 73829377 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:73829377G>A uc001ouu.2 - 8 1643 c.1416C>T c.(1414-1416)gtC>gtT p.V472V C2CD3_uc001ouv.2_Silent_p.V472V NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 472 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TTTTAGAAGGGACGATATCAT 0.423000 42 21 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10351974 10351974 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:10351974G>A uc002gmn.3 - 31 4603 c.4492C>T c.(4492-4494)Cat>Tat p.H1498Y AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1498 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.H1498D(2) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTTCAAGATGATCCAGGGAT 0.428000 4 56 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78449574 78449574 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:78449574C>T uc001ozl.4 - 19 3261 c.2798G>A c.(2797-2799)gGa>gAa p.G933E NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 933 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CAGGGGGGTTCCATCTGATGT 0.473000 15 23 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28509498 28509498 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:28509498C>T uc002dqb.2 + 2 3085 c.3052C>T c.(3052-3054)Cgt>Tgt p.R1018C NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R547C NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 1009 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCCCTCTTTTCGTCGGACTCC 0.682000 9 4 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57399065 57399065 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:57399065C>T uc001cyp.3 - 9 1562 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K C8B_uc010oon.2_Missense_Mutation_p.E437K|C8B_uc010ooo.2_Missense_Mutation_p.E447K NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 499 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.E499K(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GAACTAACTTCCTTCTGGAAC 0.527000 33 23 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55568560 55568560 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:55568560C>T uc021pqw.1 - 35 5654 c.5259G>A c.(5257-5259)caG>caA p.Q1753Q PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.Q1748Q|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.I1753V(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) GACCTCCAGACTGACTTTCGC 0.498000 HNSCC(58;0.16) 4 9 0 0 1 0 0 TP53I13 90313 broad.mit.edu 37 17 27896362 27896362 + Silent SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:27896362A>G uc002hee.3 + 2 206 c.168A>G c.(166-168)cgA>cgG p.R56R ABHD15_uc002hed.2_5'Flank NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA. 56 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) CCTACACACGAGTGAGCCCAG 0.612000 12 2 0 0 1 0 0 TMEM178 130733 broad.mit.edu 37 2 39934218 39934218 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:39934218G>A uc002rrt.3 + 2 624 c.544G>A c.(544-546)Ggc>Agc p.G182S TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Intron NM_152390 NP_689603 Q8NBL3 TM178_HUMAN Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA. 182 integral to membrane endometrium(1)|large_intestine(5)|lung(5) 11 all_hematologic(82;0.248) TGGCTTCCTCGGCATGGCCGT 0.483000 28 35 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111668626 111668626 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:111668626C>T uc004bdm.4 - 13 2120 c.1600G>A c.(1600-1602)Gct>Act p.A534T IKBKAP_uc004bdl.3_Missense_Mutation_p.A185T|IKBKAP_uc011lwc.2_Missense_Mutation_p.A420T|IKBKAP_uc010mtq.3_Missense_Mutation_p.A185T NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 534 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCAGAAGAAGCTGCAGTCAAA 0.468000 67 56 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43855019 43855019 + Missense_Mutation SNP G A A rs145463901 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:43855019G>A uc002zbe.3 + 9 1432 c.1348G>A c.(1348-1350)Gat>Aat p.D450N UBASH3A_uc002zbf.3_Missense_Mutation_p.D412N|UBASH3A_uc010gpe.3_Missense_Mutation_p.D412N|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. 450 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CTTTGAAAACGATCCCCCATT 0.433000 49 52 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20774298 20774298 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:20774298C>T uc001reh.2 + 4 1533 c.1493C>T c.(1492-1494)gCt>gTt p.A498V PDE3A_uc021qwa.1_Missense_Mutation_p.A176V NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 498 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TCATCCTATGCTATTTCTGCA 0.398000 21 18 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994493 72994493 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:72994493G>A uc003hgg.2 + 1 589 c.491G>A c.(490-492)gGa>gAa p.G164E NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.G65E|NPFFR2_uc003hgh.2_Missense_Mutation_p.G62E NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 164 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) TGCATGATGGGAAATACTGTG 0.363000 41 53 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461443 76461443 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:76461443G>A uc002fex.1 + 2 633 c.494G>A c.(493-495)tGg>tAg p.W165* CNTNAP4_uc002feu.1_Nonsense_Mutation_p.W161*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.W74*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.W137*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.W137* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 162 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 CCTTTGGAATGGAACCCCAAG 0.408000 30 27 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7679270 7679270 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:7679270G>A uc021pmv.1 - 4 679 c.573C>T c.(571-573)atC>atT p.I191I ITIH5_uc001ijr.2_Silent_p.I191I NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 191 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.I191I(3) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CGCTCTCCAGGATATTCACGT 0.652000 39 54 0 0 1 0 0 TBCCD1 55171 broad.mit.edu 37 3 186272727 186272727 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:186272727G>A uc003fqg.3 - 4 1135 c.1006C>T c.(1006-1008)Cgt>Tgt p.R336C TBCCD1_uc011bry.2_Missense_Mutation_p.R336C|TBCCD1_uc003fqh.3_Missense_Mutation_p.R240C NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA. 336 C-CAP/cofactor C-like. cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) TCGTTGCAACGATGAATCTTT 0.468000 56 43 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233834931 233834931 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:233834931C>T uc002vts.2 - 2 624 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 126 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TACCTCATTTCCTGGGCTCCT 0.498000 40 29 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97772304 97772304 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:97772304G>A uc010qop.2 + 4 368 c.136G>A c.(136-138)Gag>Aag p.E46K LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.E46K NM_001159747 NP_001153219 Q6DHV5 C2D2B_HUMAN Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA. 46 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) AGATCAAACAGAGGTCTTGCA 0.313000 15 10 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151927082 151927082 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:151927082G>A uc003wla.3 - 17 3121 c.2902C>T c.(2902-2904)Caa>Taa p.Q968* MLL3_uc003wkz.3_Nonsense_Mutation_p.Q29* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 968 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.G967C(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTGCTCCTTGGCCAAAACTG 0.348000 N medulloblastoma 401 37 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42368155 42368155 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:42368155G>A uc001wvm.3 + 4 3332 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K LRFN5_uc010ana.3_3'UTR NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 712 integral to membrane p.E712*(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATTGTCCAGGAAACACAGGT 0.279000 HNSCC(30;0.082) 53 38 0 0 1 0 0 FRMD4B 23150 broad.mit.edu 37 3 69237038 69237038 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:69237038C>T uc003dnv.2 - 18 2092 c.1802G>A c.(1801-1803)cGa>cAa p.R601Q FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.R253Q|FRMD4B_uc011bga.1_Missense_Mutation_p.R445Q NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN Homo sapiens FERM domain containing 4B (FRMD4B), mRNA. 601 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TGAACTTGATCGCTGCCCAGG 0.383000 5 4 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126128626 126128626 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:126128626C>T uc004bnx.1 + 3 827 c.735C>T c.(733-735)ttC>ttT p.F245F CRB2_uc004bnw.1_Silent_p.F245F NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 245 EGF-like 5. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCGGGAGCTTCCGCTGCCTCT 0.736000 18 10 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93754581 93754581 + Missense_Mutation SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:93754581T>G uc001pep.2 + 0 204 c.47T>G c.(46-48)cTg>cGg p.L16R NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 16 copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.F15L(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTCACATTCCTGGGTCTGTCT 0.502000 46 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440352 179440352 + Missense_Mutation SNP A C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179440352A>C uc021vsy.1 - 274 63028 c.62803T>G c.(62803-62805)Tgt>Ggt p.C20935G MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C14630G|TTN_uc021vta.1_Missense_Mutation_p.C14563G|TTN_uc021vtb.1_Missense_Mutation_p.C14438G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21862 Ig-like 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATATTCACACCCTTCAGAC 0.438000 57 9 0 0 1 0 0 GADD45B 4616 broad.mit.edu 37 19 2477183 2477183 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:2477183C>T uc002lwb.2 + 2 537 c.303C>T c.(301-303)ctC>ctT p.L101L GADD45B_uc002lwc.1_Silent_p.L86L NM_015675 NP_056490 O75293 GA45B_HUMAN Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA. 101 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress cervix(2)|lung(1)|ovary(1) 4 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) TGGCGCAGCTCCTGGGAGAGC 0.662000 OREG0025141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 33 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144672257 144672257 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:144672257G>A uc003yyq.2 - 0 374 c.145C>T c.(145-147)Cgg>Tgg p.R49W EEF1D_uc003yyp.2_5'Flank|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Intron|EEF1D_uc003yyr.3_Intron|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CTCATCTTCCGGACACAGCGA 0.657000 39 35 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272156 164272156 + Missense_Mutation SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:164272156A>G uc003iqn.3 + 3 913 c.731A>G c.(730-732)aAc>aGc p.N244S NPY5R_uc021xtw.1_Missense_Mutation_p.N244S NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 244 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) GGATTGTCCAACAAAGAAAAC 0.383000 55 20 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727950 69727950 + Nonsense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:69727950C>T uc002exm.2 + 11 4504 c.4168C>T c.(4168-4170)Caa>Taa p.Q1390* NFAT5_uc002exj.2_Nonsense_Mutation_p.Q1314*|NFAT5_uc002exk.2_Nonsense_Mutation_p.Q1314*|NFAT5_uc002exl.2_Nonsense_Mutation_p.Q1408*|NFAT5_uc002exn.2_Nonsense_Mutation_p.Q1407*|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Nonsense_Mutation_p.Q1314* NM_006599 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA. 1390 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGTATAAATCAACAAGATAT 0.443000 47 34 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1284223 1284223 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:1284223G>A uc009xhq.3 - 4 1658 c.1332C>T c.(1330-1332)ttC>ttT p.F444F NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 444 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCGTGTAGAGGAAGTGCAGGA 0.706000 14 3 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72549780 72549781 + Splice_Site DNP GG AA AA TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:72549780_72549781GG>AA uc002auc.3 - 12 1366 c.907_splice c.e12-1 p.P303_splice PARP6_uc002aua.3_Splice_Site_p.P148_splice|PARP6_uc002aub.3_Splice_Site|PARP6_uc002aud.4_Splice_Site|PARP6_uc002auf.1_Splice_Site_p.P303_splice NM_020214 NP_064599 Q2NL67 PARP6_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA. 303 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 ACAGACAGCTGGCTGAAAGGAT 0.515000 67 31 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108635019 108635019 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:108635019C>T uc003dxj.2 - 2 465 c.397G>A c.(397-399)Gaa>Aaa p.E133K GUCA1C_uc003dxk.2_Missense_Mutation_p.E133K NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 133 EF-hand 4. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TTGATGAATTCTTCAGGACTC 0.403000 68 59 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196336 102196336 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:102196336G>A uc003dvt.1 + 10 1270 c.1170G>A c.(1168-1170)ctG>ctA p.L390L ZPLD1_uc003dvs.1_Silent_p.L374L|ZPLD1_uc011bhg.1_Silent_p.L374L NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 374 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CCAGCGCACTGATATCAGGAA 0.468000 101 109 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919933 48919933 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:48919933C>T uc010slu.2 + 0 519 c.519C>T c.(517-519)atC>atT p.I173I NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AAGCCAAAATCATTCACCACT 0.507000 58 53 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047337 42047337 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:42047337G>A uc001cgz.4 - 3 4345 c.3132C>T c.(3130-3132)ttC>ttT p.F1044F HIVEP3_uc001cha.4_Silent_p.F1044F|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1044 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GTCTCACCAAGAAGCATTTTC 0.582000 28 23 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457059 110457059 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:110457059G>A uc003yne.3 + 37 5065 c.4961G>A c.(4960-4962)cGa>cAa p.R1654Q NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1654 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGATAGGCGATTTGTACTT 0.433000 HNSCC(38;0.096) 125 112 0 0 1 0 0 CCNG2 901 broad.mit.edu 37 4 78082696 78082696 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:78082696C>T uc003hkq.4 + 4 894 c.591C>T c.(589-591)atC>atT p.I197I CCNG2_uc003hkn.4_Silent_p.I197I|CCNG2_uc011ccc.1_Silent_p.I197I|CCNG2_uc003hkp.4_Silent_p.I197I NM_004354 NP_004345 Q16589 CCNG2_HUMAN Homo sapiens cyclin G2 (CCNG2), mRNA. 197 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 GCCGACTCATCTTTTCAAAAG 0.294000 22 11 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330095 125330095 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:125330095C>T uc004bmp.1 - 0 662 c.662G>A c.(661-663)cGa>cAa p.R221Q NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R221*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGTGAGGATTCGTATATAAGA 0.428000 22 9 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97875247 97875247 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:97875247G>A uc003upg.3 - 2 417 c.212C>T c.(211-213)gCc>gTc p.A71V TECPR1_uc003uph.1_Intron NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA. 71 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATTCTCATAGGCCTCCTCTCG 0.562000 10 7 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561263 9561263 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:9561263C>T uc002wnl.2 - 4 1064 c.519G>A c.(517-519)atG>atA p.M173I PAK7_uc002wnk.2_Missense_Mutation_p.M173I|PAK7_uc002wnj.2_Missense_Mutation_p.M173I|PAK7_uc010gby.1_Missense_Mutation_p.M173I NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 173 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCTTCATTTTCATTACGTGCC 0.463000 78 73 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113875471 113875471 + Splice_Site SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:113875471G>A uc002tiz.3 + 1 1 c.-125_splice c.e1-1 IL1RN_uc002tix.1_Intron|IL1RN_uc002tiy.3_Splice_Site|IL1RN_uc002tja.3_Splice_Site NM_173841 NP_776215 P18510 IL1RA_HUMAN Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 2, mRNA. immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) TGGAAGGAGGGGCAGCTCCAC 0.607000 Lichen Sclerosis et Atrophicus, Familial Clustering of 16 14 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156825262 156825262 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:156825262G>A uc003ipf.1 + 1 192 c.128G>A c.(127-129)gGg>gAg p.G43E NM_005651 NP_005642 P48775 T23O_HUMAN Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA. 43 Substrate binding (By similarity). tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CTTATCTATGGGAACTACCTG 0.413000 8 20 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44770458 44770458 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:44770458C>T uc021uvi.1 + 2 229 c.123C>T c.(121-123)ttC>ttT p.F41F ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Silent_p.F41F NM_001207005 NP_001193934 A6NK53 ZN233_HUMAN Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA. 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TGGAGAACTTCAGGAACCTGC 0.507000 97 72 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739504 55739504 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:55739504C>T uc003pcq.3 - 0 872 c.160G>A c.(160-162)Gaa>Aaa p.E54K BMP5_uc011dxf.2_Missense_Mutation_p.E54K NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 54 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.E54K(2) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGAGAATTTCCCTTTGTATT 0.438000 50 39 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251489 129251489 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:129251489C>T uc003emt.3 + 3 905 c.810C>T c.(808-810)agC>agT p.S270S NM_000539 NP_000530 P08100 OPSD_HUMAN Homo sapiens rhodopsin (RHO), mRNA. 270 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding p.A269T(1) breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CCTACGCCAGCGTGGCATTCT 0.572000 28 27 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57216787 57216787 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:57216787G>A uc001cym.4 - 8 1723 c.1317C>T c.(1315-1317)gcC>gcT p.A439A C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 439 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TGTCAATCATGGCCTCTTGCT 0.483000 33 34 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2274938 2274938 + Missense_Mutation SNP G T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:2274938G>T uc003slm.3 - 2 589 c.560C>A c.(559-561)cCt>cAt p.P187H MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Missense_Mutation_p.P33H NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA. 187 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TGTCCCCCCAGGTTGCAGGAT 0.547000 54 29 1.88708e-17 1.89686e-17 1 1 0 TAOK2 9344 broad.mit.edu 37 16 29999120 29999120 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:29999120C>T uc010bzm.2 + 14 3583 c.3548C>T c.(3547-3549)gCc>gTc p.A1183V BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.A1063V|TAOK2_uc002dva.2_Missense_Mutation_p.A1176V|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.A1003V NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 1176 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCCCCGTGGGCCATCCACACA 0.677000 27 28 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091612 143091612 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:143091612G>A uc003qjd.3 - 4 5007 c.4264C>T c.(4264-4266)Ccc>Tcc p.P1422S NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 1422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1422L(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AAACACAAGGGGATGGAGGAT 0.547000 42 27 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537910 55537910 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:55537910G>A uc003xsd.1 + 3 1616 c.1468G>A c.(1468-1470)Gaa>Aaa p.E490K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 490 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGAAGAAAGGGAAAGTGGGGA 0.358000 28 30 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19486669 19486669 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:19486669C>T uc011aha.2 + 9 873 c.795C>T c.(793-795)atC>atT p.I265I CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.I228I|CDC45_uc002zpr.3_Silent_p.I233I|CDC45_uc002zpt.3_Silent_p.I187I NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 233 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AAGACAAGATCACTCAGTAAG 0.572000 74 55 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125557523 125557523 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:125557523C>T uc001lhk.1 - 5 1183 c.858G>A c.(856-858)atG>atA p.M286I CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 286 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCTCCATTCTCATGCAGATGC 0.557000 22 30 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136873442 136873442 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:136873442C>T uc002tuz.3 - 1 151 c.56G>A c.(55-57)gGg>gAg p.G19E CXCR4_uc002tuy.3_Missense_Mutation_p.G23E|CXCR4_uc010fnk.3_Missense_Mutation_p.G4E NM_003467 NP_003458 P61073 CXCR4_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA. 19 Important for chemokine binding, signaling and HIV-1 coreceptor activity. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GTCATAGTCCCCTGAGCCCAT 0.423000 50 54 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151453191 151453191 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:151453191C>T uc010ntk.1 - 3 519 c.279G>A c.(277-279)gtG>gtA p.V93V NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 93 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTCAGTCTTCACTTCAGTCA 0.438000 3 32 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:126707544T>G uc003ejg.3 + 0 108 c.108T>G c.(106-108)ggT>ggG p.G36G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 40 5 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132618591 132618591 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:132618591C>T uc004bys.2 + 3 298 c.87C>T c.(85-87)acC>acT p.T29T USP20_uc004byr.2_Silent_p.T29T|USP20_uc004byt.1_Silent_p.T29T NM_001110303 NP_006667 Q9Y2K6 UBP20_HUMAN Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA. 29 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) CACAGGGAACCTGTCAGTCGT 0.592000 7 93 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44426927 44426927 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:44426927C>T uc001ckx.3 + 13 3132 c.2337C>T c.(2335-2337)ttC>ttT p.F779F NM_014652 NP_055467 O94829 IPO13_HUMAN Homo sapiens importin 13 (IPO13), mRNA. 779 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TCACTCTCTTCCAGCAAGGTA 0.582000 182 185 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155506994 155506994 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:155506994G>A uc003iod.1 - 4 1645 c.1587C>T c.(1585-1587)ttC>ttT p.F529F FGA_uc003ioe.1_Silent_p.F529F|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 529 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGAAACCTGGGAATGTTTTTC 0.473000 12 29 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17056374 17056374 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:17056374C>T uc011awc.2 + 3 3061 c.2965C>T c.(2965-2967)Ctg>Ttg p.L989L PLCL2_uc011awd.2_Silent_p.L871L NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 997 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCCGGAGGTTCTGAAGAAGAT 0.502000 90 68 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180299 124180299 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed 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 12 10 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146868 52146868 + Missense_Mutation SNP A C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:52146868A>C uc002pxf.4 - 5 1190 c.1070T>G c.(1069-1071)gTc>gGc p.V357G NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA. 357 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) CAGGGTGAGGACGAGGGGCCA 0.582000 40 25 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:12957624C>G uc003wwm.2 - 8 2666 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 54 3 0 0 1 0 0 RNFT2 84900 broad.mit.edu 37 12 117217093 117217093 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:117217093C>T uc009zwn.3 + 6 1055 c.822C>T c.(820-822)acC>acT p.T274T RNFT2_uc001twb.4_Silent_p.T274T|RNFT2_uc001twa.4_Silent_p.T184T|RNFT2_uc001twc.4_Silent_p.T22T NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA. 274 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) AGTACATCACCATCGCCCTCA 0.557000 52 59 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G C C rs141357429 by1000genomes TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:39274087G>C uc002hvz.3 - 0 520 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 12 4 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870827 12870827 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:12870827G>A uc001ilo.3 + 10 1334 c.1099G>A c.(1099-1101)Gga>Aga p.G367R NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 367 calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CTCAGGAGTTGGAGCCGAGCG 0.622000 13 38 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794549 15794549 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:15794549C>T uc002nbl.3 + 6 1013 c.894C>T c.(892-894)ttC>ttT p.F298F NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTTTGGATTTCATTGATGTGC 0.438000 82 71 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464422 2464422 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:2464422G>A uc002wge.1 - 5 1673 c.1185C>T c.(1183-1185)acC>acT p.T395T ZNF343_uc010gao.1_Silent_p.T395T|ZNF343_uc002wgd.1_Silent_p.T305T NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN Homo sapiens zinc finger protein 343 (ZNF343), mRNA. 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GTTTTCTGAGGGTTGACTTAT 0.498000 40 32 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875287 247875287 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:247875287G>A uc001idj.1 - 0 771 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACGTGAAGGAAAACTGTGG 0.527000 52 43 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55355009 55355009 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:55355009G>A uc010spd.1 - 9 1643 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S TESPA1_uc001sgl.3_Missense_Mutation_p.P366S|TESPA1_uc001sgm.3_Missense_Mutation_p.P251S|TESPA1_uc010spb.1_Missense_Mutation_p.P251S|TESPA1_uc010spc.1_Missense_Mutation_p.P366S|TESPA1_uc001sgn.3_Missense_Mutation_p.P504S NM_001136030 NP_001092285 A2RU30 K0748_HUMAN Homo sapiens KIAA0748 (KIAA0748), mRNA. 504 GGTCTGCTGGGCCAGCGACTC 0.567000 122 113 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382018 41382018 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:41382018G>A uc003jmm.1 - 1 824 c.722C>T c.(721-723)tCg>tTg p.S241L NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 241 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.S241L(2)|p.S241S(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TATAAAAAACGATCCCTTCTT 0.507000 27 28 0 0 1 0 0 BRP44 25874 broad.mit.edu 37 1 167887567 167887567 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:167887567G>A uc001ges.3 - 4 738 c.378C>T c.(376-378)caC>caT p.H126H BRP44_uc001geu.3_Silent_p.H126H|BRP44_uc001get.3_Silent_p.H126H NM_015415 NP_056230 O95563 BR44_HUMAN Homo sapiens brain protein 44 (BRP44), transcript variant 2, mRNA. 126 mitochondrion breast(1)|kidney(1)|large_intestine(2) 4 all_hematologic(923;0.215) KIRC - Kidney renal clear cell carcinoma(1967;0.247) TCTTTTATTTGTGTGCTTTAG 0.308000 18 19 0 0 1 0 0 MON1B 22879 broad.mit.edu 37 16 77225523 77225524 + Missense_Mutation DNP GG AA AA TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:77225523_77225524GG>AA uc002fez.3 + 1 471_472 c.141_142GG>AA c.(139-144)gaggaa>gaAAaa p.E48K MON1B_uc010vnf.2_Missense_Mutation_p.E48K|MON1B_uc010vng.2_Intron|MON1B_uc002ffa.3_5'Flank NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA. 48 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 AGGGCCTGGAGGAAACAGGTAT 0.584000 9 8 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49448473 49448473 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:49448473C>T uc001jgi.3 - 5 961 c.630G>A c.(628-630)agG>agA p.R210R FRMPD2_uc001jgh.3_Silent_p.R179R|FRMPD2_uc001jgj.3_Silent_p.R179R NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 210 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCAGCCTCTTCCTGAGCAGGT 0.587000 21 12 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204163 106204163 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:106204163G>A uc001yse.3 - 6 1180 c.734C>T c.(733-735)tCg>tTg p.S245L abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; GTCCACCACCGAGGAGAAGAT 0.667000 111 73 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119263714 119263715 + Splice_Site DNP CC TT TT TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:119263714_119263715CC>TT uc003ecq.3 - 3 496 c.101_splice c.e3-1 p.G34_splice CD80_uc010hqt.1_Splice_Site_p.G34_splice|CD80_uc010hqu.1_Splice_Site_p.G34_splice|CD80_uc003ecr.1_Splice_Site_p.G34_splice NM_005191 NP_005182 P33681 CD80_HUMAN Homo sapiens CD80 molecule (CD80), mRNA. 34 T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) GTGGATAACACCTATGGAGAGG 0.441000 9 11 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179338084 179338084 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:179338084C>T uc001gmo.3 + 2 634 c.247C>T c.(247-249)Cct>Tct p.P83S AXDND1_uc001gmn.2_Intron|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.P41S NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 83 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CTTACTACCTCCTAAGAAAAT 0.373000 28 27 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911365 100911365 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:100911365G>A uc010nnt.2 - 4 2019 c.1210C>T c.(1210-1212)Caa>Taa p.Q404* ARMCX2_uc004eid.2_Nonsense_Mutation_p.Q404*|ARMCX2_uc004eie.3_Nonsense_Mutation_p.Q404*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.Q404*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.Q404*|ARMCX2_uc022caq.1_Nonsense_Mutation_p.Q404* NM_177949 NP_808818 Q7L311 ARMX2_HUMAN Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA. 404 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GCTACCTGTTGGATGAAAGGA 0.453000 3 42 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13629110 13629110 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:13629110C>T uc001imp.3 + 0 172 c.24C>T c.(22-24)atC>atT p.I8I PRPF18_uc001imq.3_Non-coding_Transcript NM_003675 NP_003666 Q99633 PRP18_HUMAN Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA. 8 RNA splicing|mRNA processing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 AATCAGAGATCCTTCGGAAGC 0.612000 55 76 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75974676 75974676 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:75974676C>T uc002baw.3 - 7 5001 c.4908G>A c.(4906-4908)caG>caA p.Q1636Q NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 1636 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CTGTGCTGTCCTGCTGGGCGT 0.672000 46 61 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140263656 140263656 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140263656G>A uc003lif.2 + 0 1803 c.1803G>A c.(1801-1803)tcG>tcA p.S601S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S601S|PCDHAC2_uc003lid.3_Silent_p.S601S NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 614 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCGATTCGGGCTACAATG 0.697000 5 76 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2028377 2028377 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:2028377C>T uc002cnu.1 + 20 2300 c.2198C>T c.(2197-2199)gCc>gTc p.A733V TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.A619V|TBL3_uc010bsc.1_Missense_Mutation_p.A600V|TBL3_uc010uvt.1_Missense_Mutation_p.A202V|TBL3_uc002cnw.1_Non-coding_Transcript NM_006453 NP_006444 Q12788 TBL3_HUMAN Homo sapiens transducin (beta)-like 3 (TBL3), mRNA. 733 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 GAGGCCCAGGCCGTGCTGGGT 0.672000 59 56 0 0 1 0 0 CD3G 917 broad.mit.edu 37 11 118220644 118220644 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:118220644G>A uc001psu.2 + 2 346 c.266G>A c.(265-267)gGa>gAa p.G89E CD3G_uc009zaa.1_Missense_Mutation_p.G29E NM_000073 NP_000064 P09693 CD3G_HUMAN Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA. 89 Ig-like. T cell activation|T cell costimulation|T cell receptor signaling pathway|establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis T cell receptor complex|integral to plasma membrane T cell receptor binding|protein heterodimerization activity|receptor signaling complex scaffold activity|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CAGTGTAAAGGATCACAGAAC 0.388000 48 22 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857387 9857387 + Silent SNP C T T rs61758997 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:9857387C>T uc010uym.2 - 13 4324 c.4014G>A c.(4012-4014)ggG>ggA p.G1338G GRIN2A_uc002czo.4_Silent_p.G1338G|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1338 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) AGCTTTTTTTCCCCGAGAGTT 0.552000 42 30 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52309829 52309829 + Missense_Mutation SNP T G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:52309829T>G uc001rzj.3 + 7 1341 c.1058T>G c.(1057-1059)gTg>gGg p.V353G ACVRL1_uc001rzk.3_Missense_Mutation_p.V353G|ACVRL1_uc010snm.2_Missense_Mutation_p.V179G NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 353 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity p.V353V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GGCCTGGCTGTGATGCACTCA 0.632000 66 68 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307514 140307514 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140307514C>T uc003lih.2 + 0 1213 c.1037C>T c.(1036-1038)tCg>tTg p.S346L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S346L NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 371 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACTCTTTCGAACCCAGTA 0.517000 7 78 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733690 35733690 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:35733690C>T uc021rid.1 + 21 3916 c.3382C>T c.(3382-3384)Cca>Tca p.P1128S NBEA_uc021ric.1_Missense_Mutation_p.P1128S|NBEA_uc010abi.3_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 1128 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGATAATGGTCCATTGATAAC 0.343000 11 9 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205549915 205549915 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:205549915C>T uc001hcv.4 + 2 642 c.556C>T c.(556-558)Cat>Tat p.H186Y MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.H131Y NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 186 transmembrane transport integral to membrane p.H186N(2) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCACCTGTTCCATGTCTCCAG 0.617000 35 35 0 0 1 0 0 FLJ36000 284124 broad.mit.edu 37 17 21904093 21904093 + RNA SNP A G G rs76302591 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:21904093A>G uc002gza.2 + 0 c.32A>G Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA. cacggggtccacaggaacgtc 0.682000 38 3 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490101 128490101 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:128490101C>T uc003vnz.4 + 30 5480 c.5271C>T c.(5269-5271)ccC>ccT p.P1757P FLNC_uc003voa.4_Intron NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1757 Hinge 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACGCTCCTccccggcccggcg 0.687000 2 2 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 108 132 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726745 25726745 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:25726745C>T uc003nfc.3 - 0 46 c.11G>A c.(10-12)cGa>cAa p.R4Q HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 4 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CTGCTTCCCTCGTCCAGACAT 0.522000 73 65 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11031727 11031728 + Missense_Mutation DNP GA AC AC TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:11031727_11031728GA>AC uc002mpz.3 + 13 1665_1666 c.1539_1540GA>AC c.(1537-1542)gggatg>ggACtg p.M514L CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Missense_Mutation_p.M297L NM_199141 NP_954592 Q86X55 CARM1_HUMAN Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA. 514 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TGGACACAGGGATGCCGACCGC 0.668000 34 20 0 0 1 0 0 DCTN2 10540 broad.mit.edu 37 12 57929324 57929324 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:57929324G>A uc021qzn.1 - 5 354 c.222C>T c.(220-222)ttC>ttT p.F74F DCTN2_uc001som.1_Silent_p.F69F|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR NM_006400 NP_006391 Q13561 DCTN2_HUMAN Homo sapiens dynactin 2 (p50) (DCTN2), mRNA. 69 G2/M transition of mitotic cell cycle|cell proliferation|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding p.D73H(1) endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 TACGATCTGAGAAATCTGCCA 0.448000 66 39 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768441 57768441 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:57768441C>T uc002yan.3 + 0 2367 c.2367C>T c.(2365-2367)gcC>gcT p.A789A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 789 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAGGAGGTGCCCGAGGTGTGG 0.657000 19 17 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622600 180622600 + Nonsense_Mutation SNP C A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:180622600C>A uc003mmz.1 - 6 1169 c.1102G>T c.(1102-1104)Gag>Tag p.E368* TRIM7_uc003mmv.1_Nonsense_Mutation_p.E186*|TRIM7_uc003mmw.1_Nonsense_Mutation_p.E160*|TRIM7_uc003mmy.1_Nonsense_Mutation_p.E160*|TRIM7_uc003mmx.1_Nonsense_Mutation_p.E160* NM_203293 NP_976041 Q9C029 TRIM7_HUMAN Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA. 368 B30.2/SPRY. cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TGGGCCCGCTCGCCGAGGCGC 0.667000 98 3 1 1 1 1 0 PSMB1 5689 broad.mit.edu 37 6 170862327 170862327 + Silent SNP A G G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:170862327A>G uc011ehe.2 - 0 91 c.4T>C c.(4-6)Ttg>Ctg p.L2L PSMB1_uc003qxq.2_Non-coding_Transcript|PSMB1_uc003qxr.3_5'Flank|TBP_uc003qxu.3_5'Flank|TBP_uc011ehf.2_5'Flank|TBP_uc003qxt.3_5'Flank NM_002793 NP_002784 P20618 PSB1_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA. 2 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) GTAGAGGACAACATCGCACGG 0.602000 13 9 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42603282 42603282 + Missense_Mutation SNP G T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:42603282G>T uc011dur.2 + 13 1970 c.1672G>T c.(1672-1674)Gat>Tat p.D558Y UBR2_uc011dus.2_Missense_Mutation_p.D203Y|UBR2_uc010jxv.1_Missense_Mutation_p.D62Y|UBR2_uc003osh.3_Non-coding_Transcript NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA. 558 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTGTGCTTCAGATGTGAGTTT 0.423000 60 62 4.79706e-38 4.87241e-38 1 1 0 ZPLD1 131368 broad.mit.edu 37 3 102181165 102181165 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:102181165G>A uc003dvt.1 + 5 771 c.671G>A c.(670-672)gGa>gAa p.G224E ZPLD1_uc003dvs.1_Missense_Mutation_p.G208E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G208E NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 208 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CCCAGTATAGGATTACCTTTG 0.353000 46 27 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100336192 100336192 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:100336192G>A uc003uwj.3 + 6 887 c.722G>A c.(721-723)gGa>gAa p.G241E ZAN_uc003uwk.3_Missense_Mutation_p.G241E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 241 MAM 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGGTCATCAGGAAAGCCAGGC 0.557000 16 11 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71531935 71531935 + Splice_Site SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:71531935C>T uc009zrt.1 - 4 498 c.336_splice c.e4+1 p.K112_splice TSPAN8_uc001swk.1_Splice_Site_p.K112_splice|TSPAN8_uc001swj.1_Splice_Site_p.K112_splice NM_004616 NP_004607 P19075 TSN8_HUMAN Homo sapiens tetraspanin 8 (TSPAN8), mRNA. 112 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) TGTGCACACACCTTAGATTTG 0.358000 101 72 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019312 55019312 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:55019312G>A uc002qgc.3 + 2 399 c.277G>A c.(277-279)Gaa>Aaa p.E93K LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.E93K|LAIR2_uc010erl.3_Intron NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA. 93 Ig-like C2-type. extracellular region receptor activity p.E93E(1) central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CTCAGTAAGTGAAGGAAATGC 0.493000 64 57 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90611620 90611620 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:90611620C>T uc002bov.2 + 1 1374 c.1251C>T c.(1249-1251)tcC>tcT p.S417S NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN Homo sapiens zinc finger protein 710 (ZNF710), mRNA. 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TGGACTTCTCCACCCTGACCC 0.662000 33 35 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170724939 170724939 + Nonsense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:170724939G>A uc003fhe.1 - 4 919 c.610C>T c.(610-612)Cag>Tag p.Q204* SLC2A2_uc003fhf.1_Nonsense_Mutation_p.Q31*|SLC2A2_uc011bpu.1_Nonsense_Mutation_p.Q77* NM_000340 NP_000331 P11168 GTR2_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA. 204 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GTTTTTACCTGACTAATAAGA 0.483000 12 17 0 0 1 0 0 TCRBV2S1 0 broad.mit.edu 37 7 142334807 142334808 + Missense_Mutation DNP GA AC AC TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:142334807_142334808GA>AC uc003vzp.2 + 1 284_285 c.229_230GA>AC c.(229-231)gag>ACg p.E77T TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.E78T|TCRBV2S1_uc022anq.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GCAAGGCGTCGAGAAGGACAAG 0.515000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 45 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80647328 80647328 + Silent SNP A C C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:80647328A>C uc001szd.3 + 12 1347 c.1341A>C c.(1339-1341)tcA>tcC p.S447S NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CAGTTGGTTCAAAAATTGAAC 0.388000 29 24 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234878989 234878989 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:234878989G>A uc002vvh.3 + 16 2314 c.2274G>A c.(2272-2274)atG>atA p.M758I TRPM8_uc010fyj.3_Intron NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 758 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGCTGCTCATGGATTTCCATT 0.557000 267 199 0 0 1 0 0 FAM116B 414918 broad.mit.edu 37 22 50750841 50750841 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:50750841G>A uc011arv.1 - 18 1638 c.1566C>T c.(1564-1566)atC>atT p.I522I NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA. 522 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCAGGTCTCGATGTTCTGCA 0.622000 12 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085830 9085830 + Silent SNP A T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:9085830A>T uc002mkp.3 - 0 6189 c.5985T>A c.(5983-5985)gtT>gtA p.V1995V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1995 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 TCTGCACAGAAACTTTTTCTG 0.468000 37 30 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126739070 126739070 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:126739070C>T uc003ejg.3 + 19 3921 c.3921C>T c.(3919-3921)atC>atT p.I1307I NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1307 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.R1307W(1) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AGACAGACATCCACGAGCTGA 0.637000 50 42 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18688694 18688694 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:18688694C>T uc001bau.2 + 4 893 c.510C>T c.(508-510)tgC>tgT p.C170C IGSF21_uc001bav.2_5'UTR NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 170 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) CGCTGGTCTGCATCGTGTCTG 0.612000 19 14 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12164553 12164553 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:12164553C>T uc001atq.3 + 3 608 c.386C>T c.(385-387)tCt>tTt p.S129F TNFRSF8_uc010obc.2_Missense_Mutation_p.S18F NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 129 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane p.S129F(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TTCTTCCATTCTGTCTGTCCG 0.577000 22 26 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265197 42265197 + Missense_Mutation SNP C A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:42265197C>A uc002orm.2 + 2 614 c.465C>A c.(463-465)aaC>aaA p.N155K NM_002483 NP_002474 P40199 CEAM6_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA. 155 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ACAACTCCAACCCCGTGGAGG 0.557000 165 101 6.13486e-44 6.24758e-44 1 1 0 OR1L6 392390 broad.mit.edu 37 9 125513035 125513035 + Silent SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:125513035G>A uc022bna.1 + 0 909 c.909G>A c.(907-909)aaG>aaA p.K303K NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 339 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 GGGGTTTGAAGAAATTACAGG 0.403000 28 37 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140175559 140175559 + Missense_Mutation SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140175559C>T uc003lhd.2 + 0 1116 c.1010C>T c.(1009-1011)tCa>tTa p.S337L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.S337L|PCDHAC2_uc011czy.2_Missense_Mutation_p.S337L NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 352 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTAAAATTTCATTAAAACTT 0.413000 3 21 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169611778 169611778 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:169611778G>A uc011cjx.2 + 6 1571 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K PALLD_uc003iru.3_Missense_Mutation_p.E454K|PALLD_uc003irv.3_Missense_Mutation_p.E72K NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 454 Ig-like C2-type 2. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding p.A453A(1) 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) AGCCGTGGCGGAAGGCCAGGT 0.502000 Pancreatic Cancer, Familial Clustering of 38 67 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 856086 856086 + Silent SNP C T T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:856086C>T uc002lqb.3 + 4 764 c.726C>T c.(724-726)atC>atT p.I242I NM_001972 NP_001963 P08246 ELNE_HUMAN Homo sapiens elastase, neutrophil expressed (ELANE), mRNA. 242 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) TAAACTGGATCGACTCTATCA 0.652000 175 138 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67171762 67171762 + Missense_Mutation SNP G A A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:67171762G>A uc001ola.3 + 1 118 c.89G>A c.(88-90)gGg>gAg p.G30E PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.G30E|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 30 intracellular Rab GTPase activator activity p.S29S(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGCTCAGCGGGCCTGGCCCA 0.687000 8 19 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT - - TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:66436625_66436627delGCT uc003dmx.3 - 12 1581_1583 c.1567_1569delAGC c.(1567-1569)agcdel p.S524del SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_In_Frame_Del_p.S144del|LRIG1_uc003dmw.3_In_Frame_Del_p.S190del|LRIG1_uc010hnz.3_In_Frame_Del_p.S240del|LRIG1_uc010hoa.3_In_Frame_Del_p.S548del NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 524 Ig-like C2-type 1.|Poly-Ser. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 --- 526 --- --- 8 --- SRF 6722 broad.mit.edu 37 6 43139485 43139487 + In_Frame_Del DEL GGC - - TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:43139485_43139487delGGC uc003oui.3 + 0 566_568 c.91_93delGGC c.(91-93)ggcdel p.G35del SRF_uc011dvf.2_5'Flank NM_003131 NP_003122 P11831 SRF_HUMAN Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA. 35 Gly-rich. angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) ggggcggccgggcggcggcggcg 0.818 --- 4 --- --- 2 --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + Splice_Site INS - C C rs36063533 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:7080212_7080213insC uc001qsh.4 + 1 269 c.126_splice c.e1+1 p.S42_splice PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript NM_006331 NP_006322 Q92979 NEP1_HUMAN Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA. 42 ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 --- 17 --- --- 7 ---