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 ARID1A 8289 broad.mit.edu 37 1 27106176 27106176 + Missense_Mutation SNP T T G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr1:27106176T>G uc001bmv.1 + 19 6160 c.5787T>G c.(5785-5787)agT>agG p.S1929R ARID1A_uc001bmu.1_Missense_Mutation_p.S1712R|ARID1A_uc001bmx.1_Missense_Mutation_p.S775R|ARID1A_uc009vsm.1_Missense_Mutation_p.S257R|ARID1A_uc009vsn.1_Missense_Mutation_p.S171R NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1929 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.K1928*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GAGCTAAGAGTTCAGAGGCCA 0.532 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" NBPF10 100132406 broad.mit.edu 37 1 145299838 145299838 + Missense_Mutation SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr1:145299838G>A uc021oul.1 + 5 922 c.887G>A c.(886-888)cGc>cAc p.R296H NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R296H|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 296 p.R296H(6)|p.R25H(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAGAAATTGCGCCCCCAGCTG 0.488 OR2L3 391192 broad.mit.edu 37 1 248224277 248224277 + Silent SNP T T A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr1:248224277T>A uc001idx.1 + 0 294 c.294T>A c.(292-294)atT>atA p.I98I OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G97A(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGTGTGGGATTCAGAGTTTCT 0.428 SYT13 57586 broad.mit.edu 37 11 45273992 45273992 + Missense_Mutation SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr11:45273992C>T uc001myq.2 - 3 952 c.826G>A c.(826-828)Gag>Aag p.E276K SYT13_uc009yku.1_Missense_Mutation_p.E132K NM_020826 NP_001234916 Q7L8C5 SYT13_HUMAN Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA. 276 transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 GTCTTCAGCTCGCCCCACTGG 0.632 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAPK8IP1 9479 broad.mit.edu 37 11 45927211 45927211 + Missense_Mutation SNP A A G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr11:45927211A>G uc001nbr.3 + 11 2400 c.2075A>G c.(2074-2076)cAg>cGg p.Q692R NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 692 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) AGAGCATTCCAGCAGTTCTAC 0.597 PTPRJ 5795 broad.mit.edu 37 11 48185118 48185118 + Missense_Mutation SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr11:48185118C>T uc001ngp.4 + 22 4022 c.3667C>T c.(3667-3669)Cgt>Tgt p.R1223C NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 1223 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GTACCTCGTTCGTGACTACAT 0.517 ZNF202 7753 broad.mit.edu 37 11 123597645 123597645 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr11:123597645T>C uc001pzd.1 - 8 1407 c.1007A>G c.(1006-1008)gAg>gGg p.E336G ZNF202_uc001pzc.1_Missense_Mutation_p.E112G|ZNF202_uc001pze.1_Missense_Mutation_p.E336G|ZNF202_uc001pzf.1_Missense_Mutation_p.E336G NM_003455 NP_003446 O95125 ZN202_HUMAN Homo sapiens zinc finger protein 202 (ZNF202), mRNA. 336 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) GTGTATATCCTCCAAACTCAG 0.453 B3GAT1 27087 broad.mit.edu 37 11 134253884 134253884 + Missense_Mutation SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr11:134253884C>T uc001qhq.3 - 3 572 c.311G>A c.(310-312)cGc>cAc p.R104H B3GAT1_uc001qhr.3_Missense_Mutation_p.R104H|B3GAT1_uc010scv.1_Missense_Mutation_p.R117H NM_018644 NP_473366 Q9P2W7 B3GA1_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA. 104 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GTTGGCCATGCGCGTCAGCTC 0.716 PDZRN4 29951 broad.mit.edu 37 12 41967365 41967365 + Silent SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr12:41967365C>T uc010skn.2 + 9 2792 c.2784C>T c.(2782-2784)gaC>gaT p.D928D PDZRN4_uc001rmq.4_Silent_p.D670D|PDZRN4_uc009zjz.3_Silent_p.D668D|PDZRN4_uc001rmr.3_Silent_p.D555D NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 928 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGACCACAGACGATGACACCA 0.562 LRRIQ1 84125 broad.mit.edu 37 12 85459127 85459127 + Missense_Mutation SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr12:85459127C>T uc001tac.3 + 8 2590 c.2479C>T c.(2479-2481)Cgc>Tgc p.R827C LRRIQ1_uc021rbo.1_Missense_Mutation_p.R705C NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 827 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATCCCTTCGACGCTGTGGATT 0.393 LUM 4060 broad.mit.edu 37 12 91502172 91502172 + Missense_Mutation SNP C C G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr12:91502172C>G uc001tbm.3 - 1 974 c.585G>C c.(583-585)caG>caC p.Q195H NM_002345 NP_002336 P51884 LUM_HUMAN Homo sapiens lumican (LUM), mRNA. 195 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 GTCTGGCTATCTGATTGAAGC 0.428 AKAP13 11214 broad.mit.edu 37 15 86286791 86286791 + Silent SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr15:86286791G>A uc002blv.1 + 35 8297 c.8127G>A c.(8125-8127)tcG>tcA p.S2709S AKAP13_uc002blu.1_Silent_p.S2713S|AKAP13_uc002blw.1_Silent_p.S1174S|AKAP13_uc002blx.1_Silent_p.S954S NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 2709 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.S2713S(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AGCCCCCCTCGCCATCTGCAC 0.502 MLST8 64223 broad.mit.edu 37 16 2256651 2256651 + Frame_Shift_Del DEL G G - TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr16:2256651delG uc002coy.3 + 3 726 c.335delG c.(334-336)tggfs p.W112fs MLST8_uc002cpc.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvx.2_Frame_Shift_Del_p.W46fs|MLST8_uc002cpd.3_Frame_Shift_Del_p.W46fs|MLST8_uc002cpb.3_Frame_Shift_Del_p.W111fs|MLST8_uc002coz.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cpe.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvy.2_Frame_Shift_Del_p.W112fs|MLST8_uc002cpf.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cph.3_Non-coding_Transcript NM_022372 NP_071767 Q9BVC4 LST8_HUMAN Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA. 112 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 GCCAGGATCTGGGACCTCAGG 0.642 ATP9B 374868 broad.mit.edu 37 18 77133909 77133909 + Missense_Mutation SNP A A T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr18:77133909A>T uc002lmx.3 + 27 3096 c.3082A>T c.(3082-3084)Atg>Ttg p.M1028L ATP9B_uc002lmw.1_Missense_Mutation_p.M1028L|ATP9B_uc002lna.3_Missense_Mutation_p.M54L|ATP9B_uc002lnb.1_Missense_Mutation_p.H126L|ATP9B_uc010drb.3_Non-coding_Transcript NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 1028 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CGGCATCCTCATGTATGGGGC 0.567 DOT1L 84444 broad.mit.edu 37 19 2216705 2216705 + Silent SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr19:2216705G>A uc002lvc.1 + 5 998 c.231G>A c.(229-231)cgG>cgA p.R77R DOT1L_uc002lvb.4_Silent_p.R783R|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.R77R NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 783 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) TGCTGAGGCGGCACCTGAGCC 0.687 FUT5 2527 broad.mit.edu 37 19 5867010 5867010 + Missense_Mutation SNP G G C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr19:5867010G>C uc002mdo.4 - 1 898 c.727C>G c.(727-729)Ccc>Gcc p.P243A FUT5_uc010duo.3_Missense_Mutation_p.P243A|FUT5_uc021uno.1_Missense_Mutation_p.P243A NM_002034 NP_002025 Q11128 FUT5_HUMAN Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA. 243 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 GTCCCCTTGGGCAGGGGCTTG 0.602 NOSIP 51070 broad.mit.edu 37 19 50059597 50059597 + Missense_Mutation SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr19:50059597G>A uc002pok.3 - 8 963 c.811C>T c.(811-813)Cgc>Tgc p.R271C NOSIP_uc002pol.3_Missense_Mutation_p.R271C NM_015953 NP_057037 Q9Y314 NOSIP_HUMAN Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA. 271 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) ATGATGTCGCGGTCTGTGAGT 0.632 ANTXR1 84168 broad.mit.edu 37 2 69240637 69240637 + Silent SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr2:69240637C>T uc002sfg.3 + 0 362 c.6C>T c.(4-6)gcC>gcT p.A2A ANTXR1_uc002sfe.3_Silent_p.A2A|ANTXR1_uc002sff.3_Silent_p.A2A|ANTXR1_uc002sfd.2_Silent_p.A2A NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA. 2 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GGGCCATGGCCACGGCGGAGC 0.721 Familial Infantile Hemangioma ADAM33 80332 broad.mit.edu 37 20 3652076 3652076 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr20:3652076T>C uc002wit.3 - 16 2060 c.1973A>G c.(1972-1974)cAc>cGc p.H658R ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.H658R|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 658 EGF-like. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CCCGTGGCTGTGGCAGGCAGT 0.612 CSRP2BP 57325 broad.mit.edu 37 20 18165284 18165284 + Missense_Mutation SNP A A C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr20:18165284A>C uc021wbb.1 + 8 2460 c.2023A>C c.(2023-2025)Agt>Cgt p.S675R CSRP2BP_uc002wqk.3_Missense_Mutation_p.S547R|CSRP2BP_uc010zru.2_Missense_Mutation_p.S546R NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA. 675 N-acetyltransferase. histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 CCCAGACTTCAGTGTTGTTGT 0.408 SEMG2 6407 broad.mit.edu 37 20 43851863 43851863 + Silent SNP T T A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr20:43851863T>A uc010ggz.3 + 1 1647 c.1590T>A c.(1588-1590)tcT>tcA p.S530S SEMG2_uc002xnk.3_Silent_p.S530S|SEMG2_uc002xnl.3_Silent_p.S410S NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 530 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) CTGGTCAATCTGCAGATAGCA 0.388 ARFGAP1 55738 broad.mit.edu 37 20 61910293 61910293 + Silent SNP G G A rs143521520 byFrequency TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr20:61910293G>A uc002yem.3 + 6 685 c.573G>A c.(571-573)ccG>ccA p.P191P ARFGAP1_uc011aas.1_Silent_p.P138P|ARFGAP1_uc011aat.1_Silent_p.P78P|ARFGAP1_uc002yel.3_Silent_p.P191P|ARFGAP1_uc002yen.3_Silent_p.P191P NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA. 191 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) ACACGCCACCGCCTCAGAAGA 0.597 IFNGR2 3460 broad.mit.edu 37 21 34809223 34809223 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr21:34809223T>C uc002yrp.4 + 6 1616 c.968T>C c.(967-969)aTc>aCc p.I323T TMEM50B_uc002yrs.2_Intron NM_005534 NP_005525 P38484 INGR2_HUMAN Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA. 323 regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) GTGTCCATTATCTCGTTTCCG 0.502 SRRD 402055 broad.mit.edu 37 22 26887547 26887547 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr22:26887547T>C uc010gve.3 + 6 936 c.929T>C c.(928-930)aTt>aCt p.I310T SRRD_uc003acp.4_Missense_Mutation_p.I303T NM_001013694 NP_001013716 Q9UH36 SRR1L_HUMAN Homo sapiens SRR1 domain containing (SRRD), mRNA. 310 rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCCATAGATATTTGGGAGTTT 0.433 IDUA 3425 broad.mit.edu 37 4 995272 995272 + Silent SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr4:995272G>A uc003gby.3 + 4 598 c.510G>A c.(508-510)gcG>gcA p.A170A IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.A123A NM_000203 NP_000194 P35475 IDUA_HUMAN Homo sapiens iduronidase, alpha-L- (IDUA), mRNA. 170 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) ACGGACTGGCGCATGTTTCCA 0.582 TMEM184C 55751 broad.mit.edu 37 4 148545074 148545074 + Silent SNP A A G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr4:148545074A>G uc003ila.4 + 1 782 c.213A>G c.(211-213)ttA>ttG p.L71L NM_018241 NP_060711 Q9NVA4 T184C_HUMAN Homo sapiens transmembrane protein 184C (TMEM184C), mRNA. 71 integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 TGCAACACTTAGTGCATTATA 0.338 MCC 4163 broad.mit.edu 37 5 112824054 112824054 + Missense_Mutation SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr5:112824054C>T uc003kql.4 - 0 474 c.58G>A c.(58-60)Ggc>Agc p.G20S NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 548 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.G20S(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ccgctgccgccgccgccgccg 0.756 PCDHB7 56129 broad.mit.edu 37 5 140554787 140554787 + Missense_Mutation SNP T T G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr5:140554787T>G uc003lit.3 + 0 2545 c.2371T>G c.(2371-2373)Ttg>Gtg p.L791V PCDHB8_uc011dai.2_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 791 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGAATAATTTGGGTTTCTG 0.423 F13A1 2162 broad.mit.edu 37 6 6145963 6145963 + Silent SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr6:6145963G>A uc003mwv.3 - 14 2211 c.2088C>T c.(2086-2088)tgC>tgT p.C696C F13A1_uc011dib.2_Missense_Mutation_p.A590V NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 696 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCCAGGGCCGGCACACTTCTT 0.547 IQCE 23288 broad.mit.edu 37 7 2644610 2644610 + Silent SNP A A G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:2644610A>G uc003sml.1 + 18 1912 c.1728A>G c.(1726-1728)ccA>ccG p.P576P IQCE_uc011jvy.1_Silent_p.P560P|IQCE_uc011jvz.1_Silent_p.P511P|IQCE_uc003smo.4_Silent_p.P576P|IQCE_uc003smk.4_Silent_p.P560P|IQCE_uc003smn.4_Silent_p.P511P NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 576 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CCAGCGTGCCAGGCCTCCCAG 0.612 ZNF727 442319 broad.mit.edu 37 7 63538420 63538420 + Silent SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:63538420C>T uc011kdm.2 + 3 1172 c.993C>T c.(991-993)aaC>aaT p.N331N NM_001159522 NP_001152994 A8MUV8 ZN727_HUMAN Homo sapiens zinc finger protein 727 (ZNF727), mRNA. 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 GTCAACATAACAGAATTCATA 0.378 CACNA2D1 781 broad.mit.edu 37 7 81591237 81591238 + Missense_Mutation DNP CC CC AT TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:81591237_81591238CC>AT uc003uhr.1 - 35 3194_3195 c.2938_2939GG>AT c.(2938-2940)ggt>ATt p.G980I CACNA2D1_uc011kgy.1_Missense_Mutation_p.G192I NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 992 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GTCTAATACACCACTGAATGAT 0.361 NAMPT 10135 broad.mit.edu 37 7 105909693 105909693 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:105909693T>C uc003vdq.3 - 4 821 c.513A>G c.(511-513)atA>atG p.I171M NAMPT_uc003vdr.1_Missense_Mutation_p.I171M|NAMPT_uc011klu.1_Missense_Mutation_p.I84M NM_005746 NP_005737 P43490 NAMPT_HUMAN Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA. 171 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 ATTTGGCCAATATTTTCTTCT 0.363 TMEM229A 730130 broad.mit.edu 37 7 123672457 123672462 + In_Frame_Del DEL GCTGCT GCTGCT - rs72310362 TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:123672457_123672462delGCTGCT uc011kob.2 - 0 1062_1067 c.596_601delAGCAGC c.(595-603)cagcagcgg>cgg p.QQ199del EU233817_uc011koc.2_Intron NM_001136002 NP_001129474 B2RXF0 T229A_HUMAN Homo sapiens transmembrane protein 229A (TMEM229A), mRNA. 199 host cell nucleus|integral to membrane sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(3) 6 GCGCCCCTCCgctgctgctgctgctg 0.757 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome PRSS3P2 154754 broad.mit.edu 37 7 142481845 142481845 + Missense_Mutation SNP A A G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr7:142481845A>G uc011ksq.2 + 3 607 c.524A>G c.(523-525)tAc>tGc p.Y175C TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. AAAGCCTCCTACCCTTTAAAG 0.512 SLCO5A1 81796 broad.mit.edu 37 8 70585394 70585394 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr8:70585394T>C uc003xyl.3 - 9 2964 c.2257A>G c.(2257-2259)Att>Gtt p.I753V SLCO5A1_uc010lzb.3_Missense_Mutation_p.I698V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 753 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCCAGAAAAATAAAAATAAAC 0.488 QSOX2 169714 broad.mit.edu 37 9 139108556 139108556 + Missense_Mutation SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chr9:139108556G>A uc010nbi.2 - 8 1137 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA. 367 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) ACTGGCGGCCGTCCAGGGAAC 0.642 NHS 4810 broad.mit.edu 37 X 17745854 17745854 + Missense_Mutation SNP A A G TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chrX:17745854A>G uc011mix.2 + 6 3966 c.3628A>G c.(3628-3630)Atg>Gtg p.M1210V NHS_uc004cxx.3_Missense_Mutation_p.M1189V|NHS_uc004cxy.3_Missense_Mutation_p.M1033V|NHS_uc004cxz.3_Missense_Mutation_p.M1012V|NHS_uc004cya.3_Missense_Mutation_p.M912V NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 1189 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TGCAGTTGAGATGGGACCAGA 0.398 PGAM4 441531 broad.mit.edu 37 X 77224407 77224407 + Missense_Mutation SNP T T C TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx beb40d7c-3861-4efe-9b1d-34ba68a66c9d 0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5 g.chrX:77224407T>C uc004ecy.1 - 0 729 c.729A>G c.(727-729)atA>atG p.I243M ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA. 243 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CCACAGCTTCTATGGCTTTGC 0.567