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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TMEM66 51669 broad.mit.edu 37 8 29927254 29927254 + Missense_Mutation SNP G G T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr8:29927254G>T uc003xhs.3 - 2 788 c.604C>A c.(604-606)Cca>Aca p.P202T MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.P30T NM_016127 NP_057211 Q96BY9 TMM66_HUMAN Homo sapiens transmembrane protein 66 (TMEM66), mRNA. 202 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GAGTACGGTGGAGGAGAATAC 0.488000 32 83 0 0 1 0 0 IL17REL 400935 broad.mit.edu 37 22 50436654 50436654 + Missense_Mutation SNP A A G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr22:50436654A>G uc003bje.1 - 9 918 c.686T>C c.(685-687)gTg>gCg p.V229A NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA. 229 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ATGGCCACTCACAGGGCAGGC 0.677000 3 78 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14759843 14759843 + Missense_Mutation SNP T T C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr9:14759843T>C uc003zlm.3 - 28 6077 c.5261A>G c.(5260-5262)gAg>gGg p.E1754G FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.E290G NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1754 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACCCACATTCTCACAGACTTC 0.388000 20 29 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93723588 93723588 + Missense_Mutation SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:93723588G>C uc001ybo.3 - 5 1887 c.1561C>G c.(1561-1563)Cga>Gga p.R521G BTBD7_uc010aur.3_Missense_Mutation_p.R46G|BTBD7_uc010two.2_Missense_Mutation_p.R341G|BTBD7_uc001ybp.3_Missense_Mutation_p.R170G|BTBD7_uc001ybq.4_Missense_Mutation_p.R436G NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 521 p.R521L(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TGTTCAATTCGCACAAAAGGT 0.408000 55 75 0 0 1 0 0 LSAMP 4045 broad.mit.edu 37 3 115561414 115561414 + Missense_Mutation SNP T T C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr3:115561414T>C uc011bis.2 - 4 1168 c.661A>G c.(661-663)Atc>Gtc p.I221V LSAMP_uc003ebs.3_Missense_Mutation_p.I221V NM_002338 NP_002329 Q13449 LSAMP_HUMAN Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA. 221 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GATTCTGTGATAGTGGGAGGA 0.493000 13 19 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102873742 102873742 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:102873742C>T uc001ylw.2 + 2 513 c.287C>T c.(286-288)aCa>aTa p.T96I TECPR2_uc010txw.2_Missense_Mutation_p.T96I|TECPR2_uc010awl.3_Missense_Mutation_p.T96I|TECPR2_uc010txx.2_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 96 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCAGCAGGCACAGCCTCTGGC 0.463000 54 36 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737969 62737969 + Missense_Mutation SNP C C A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr20:62737969C>A uc011abt.2 - 0 216 c.216G>T c.(214-216)agG>agT p.R72S NM_005286 NP_005277 P48146 NPBW2_HUMAN Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA. 72 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) TCTTGGGCGCCCTTAGGATTA 0.617000 33 25 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23075421 23075421 + Missense_Mutation SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:23075421G>A uc001wgm.3 + 4 803 c.734G>A c.(733-735)tGc>tAc p.C245Y ABHD4_uc010tna.1_Missense_Mutation_p.A272T|ABHD4_uc010tnb.2_Non-coding_Transcript NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 245 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) ATTTACCACTGCAACGCACAG 0.522000 13 10 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116811046 116811046 + Silent SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr9:116811046C>T uc004bid.3 + 14 1563 c.1464C>T c.(1462-1464)agC>agT p.S488S ZNF618_uc004bic.3_Silent_p.S395S|ZNF618_uc011lxi.2_Silent_p.S455S|ZNF618_uc011lxj.2_Silent_p.S456S|ZNF618_uc010mvb.3_Silent_p.S78S NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN Homo sapiens zinc finger protein 618 (ZNF618), mRNA. 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GCGTGGTCAGCGGGAAGGAGT 0.582000 33 67 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242794494 242794494 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr2:242794494C>T uc002wcq.4 - 2 516 c.448G>A c.(448-450)Gaa>Aaa p.E150K PDCD1_uc010fzs.3_Intron|PDCD1_uc010fzt.3_Non-coding_Transcript NM_005018 NP_005009 Q15116 PDCD1_HUMAN Homo sapiens programmed cell death 1 (PDCD1), mRNA. 150 T cell costimulation|apoptosis|humoral immune response|multicellular organismal development integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GTGGGCACTTCTGCCCTTCTC 0.677000 9 21 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr16:56782202C>T uc002eka.3 + 1 164 c.43C>T c.(43-45)Cag>Tag p.Q15* NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E14K(3)|p.Q15*(2) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 31 74 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45608849 45608849 + Missense_Mutation SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:45608849C>G uc002ilr.4 + 0 406 c.183C>G c.(181-183)atC>atG p.I61M NPEPPS_uc010wkt.2_Missense_Mutation_p.I57M|NPEPPS_uc010wku.2_Missense_Mutation_p.I61M NM_006310 NP_006301 P55786 PSA_HUMAN Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA. 61 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TCTCCCCCATCAACTACAGCC 0.687000 7 8 0 0 1 0 0 CCL13 6357 broad.mit.edu 37 17 32683581 32683581 + Silent SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:32683581C>G uc002hic.3 + 0 111 c.36C>G c.(34-36)ctC>ctG p.L12L NM_005408 NP_005399 Q99616 CCL13_HUMAN Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA. 12 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) GCCTGCTGCTCATGACAGCAG 0.502000 22 26 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8190434 8190434 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr11:8190434C>T uc010rbm.1 - 0 157 c.103G>A c.(103-105)Gag>Aag p.E35K RIC3_uc010rbl.1_5'UTR|RIC3_uc001mgd.2_Missense_Mutation_p.E35K|RIC3_uc001mgc.2_Missense_Mutation_p.E35K|RIC3_uc009yfm.2_Missense_Mutation_p.E35K|RIC3_uc001mge.2_Missense_Mutation_p.E35K|RIC3_uc009yfn.2_5'UTR|RIC3_uc001mgf.4_Missense_Mutation_p.E35K NM_024557 NP_001193600 Q7Z5B4 RIC3_HUMAN Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA. 35 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GGCGGCGGCTCCTGCCGCTTC 0.657000 6 7 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149845 45149845 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr13:45149845G>C uc001uzn.4 - 0 857 c.366C>G c.(364-366)tcC>tcG p.S122S TSC22D1_uc001uzo.2_Silent_p.S122S|TSC22D1-AS1_uc021rjb.1_5'Flank NM_183422 NP_904358 Q15714 T22D1_HUMAN Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA. 122 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity p.S122S(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGATACTAGCGGAGATCTGAG 0.493000 127 151 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112182761 112182761 + Missense_Mutation SNP C C G TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr12:112182761C>G uc009zvx.3 + 13 2322 c.2122C>G c.(2122-2124)Cgt>Ggt p.R708G ACAD10_uc001tsp.3_Missense_Mutation_p.R677G|ACAD10_uc001tsq.3_Missense_Mutation_p.R677G|ACAD10_uc001tss.1_Non-coding_Transcript NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 677 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CATGGAGCAACGTGTGTACCC 0.582000 57 48 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105261014 105261014 + Missense_Mutation SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr8:105261014C>T uc003yls.3 + 24 3857 c.3616C>T c.(3616-3618)Cgc>Tgc p.R1206C RIMS2_uc003ylp.3_Missense_Mutation_p.R1188C|RIMS2_uc003ylw.2_Missense_Mutation_p.R1195C|RIMS2_uc003ylq.3_Missense_Mutation_p.R1002C|RIMS2_uc003ylr.3_Missense_Mutation_p.R1027C NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1250 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCTAGTGGGACGCCAGACTCT 0.428000 HNSCC(12;0.0054) 17 30 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3282183 3282183 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr19:3282183G>C uc002lxm.3 + 6 847 c.810G>C c.(808-810)gtG>gtC p.V270V CELF5_uc010dtj.2_Silent_p.V270V|CELF5_uc002lxl.2_Silent_p.V270V|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA. 270 mRNA processing cytoplasm|nucleus RNA binding|nucleotide binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 GTCCCGGCGTGGCCTTCTCAC 0.622000 64 118 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744032 81744032 + Silent SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:81744032G>A uc001xvk.1 - 5 2036 c.1623C>T c.(1621-1623)ttC>ttT p.F541F STON2_uc010tvu.2_Silent_p.F541F|STON2_uc010tvt.2_Silent_p.F338F NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 541 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTGCATGGATGAAACTCAGGA 0.498000 50 66 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56204584 56204584 + Silent SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr18:56204584G>C uc002lhj.4 - 4 3049 c.2835C>G c.(2833-2835)ctC>ctG p.L945L ALPK2_uc002lhk.1_Silent_p.L276L NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 945 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CAGAAGAAAGGAGCTGTGTTT 0.532000 15 11 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20500614 20500614 + Missense_Mutation SNP G G C TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr10:20500614G>C uc001iqg.1 + 9 1715 c.1078G>C c.(1078-1080)Gat>Cat p.D360H PLXDC2_uc001iqh.1_Missense_Mutation_p.D311H|PLXDC2_uc009xkc.1_Intron NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 360 PSI. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CAGTGGATTTGATCGTCATCG 0.443000 4 6 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59789679 59789679 + Silent SNP C C T TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr14:59789679C>T uc001xdz.1 + 5 635 c.510C>T c.(508-510)taC>taT p.Y170Y DAAM1_uc001xea.1_Silent_p.Y170Y|DAAM1_uc001xeb.1_Silent_p.Y170Y NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA. 170 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane Rho GTPase binding|actin binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CCATGGACTACGAGACCTCAG 0.448000 58 67 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15983374 15983374 + Silent SNP G G A TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr17:15983374G>A uc002gpo.3 - 25 3674 c.3405C>T c.(3403-3405)acC>acT p.T1135T NCOR1_uc002gpn.3_Silent_p.T1151T|NCOR1_uc002gpp.1_Silent_p.T1042T|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_Silent_p.T43T|NCOR1_uc010vwc.2_5'UTR NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 1135 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGGCTCCTGCGGTACCTGAAT 0.463000 28 29 0 0 1 0 0 NDUFS5 4725 broad.mit.edu 37 1 39494585 39494586 + Frame_Shift_Ins INS - - TA TCGA-BJ-A191-01A-11D-A13W-08 TCGA-BJ-A191-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c2e6a0-2341-49c4-a6dd-656e7bb505dd 62c780b8-c3a9-4c61-a1bc-18a80c5ca48d g.chr1:39494585_39494586insTA uc001ccx.3 + 1 299_300 c.189_190insTA c.(187-192)ttcgtafs p.F63fs NDUFS5_uc001ccy.3_Frame_Shift_Ins_p.F63fs NM_004552 NP_004543 O43920 NDUS5_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) (NDUFS5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 63 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.D62Y(1) endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) ATGATGATTTCGTAGAGTGTTT 0.396 69 72 --- --- --- ---