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 BNC2 54796 broad.mit.edu 37 9 16436472 16436472 + Missense_Mutation SNP T T C TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr9:16436472T>C uc003zml.3 - 5 1860 c.1720A>G c.(1720-1722)Aga>Gga p.R574G BNC2_uc011lmw.2_Missense_Mutation_p.R479G|BNC2_uc003zmm.3_Missense_Mutation_p.R532G|BNC2_uc003zmq.1_Missense_Mutation_p.R588G|BNC2_uc003zmr.1_Missense_Mutation_p.R611G|BNC2_uc003zmp.1_Missense_Mutation_p.R602G|BNC2_uc010mij.1_Missense_Mutation_p.R496G|BNC2_uc011lmv.2_Missense_Mutation_p.R400G|BNC2_uc003zmo.1_Missense_Mutation_p.R496G|BNC2_uc003zmj.3_Missense_Mutation_p.R339G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R339G|BNC2_uc003zmn.1_Missense_Mutation_p.R339G NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 574 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AGTAAACTTCTATAAAATGGA 0.507000 30 62 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090988 91090988 + Missense_Mutation SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chrX:91090988C>T uc004efk.2 + 0 1330 c.485C>T c.(484-486)gCg>gTg p.A162V PCDH11X_uc004efl.2_Missense_Mutation_p.A162V|PCDH11X_uc010nmv.2_Missense_Mutation_p.A162V|PCDH11X_uc004efm.2_Missense_Mutation_p.A162V|PCDH11X_uc004efn.2_Missense_Mutation_p.A162V|PCDH11X_uc004efo.2_Missense_Mutation_p.A162V|PCDH11X_uc004efh.2_Missense_Mutation_p.A162V|PCDH11X_uc004efj.1_Missense_Mutation_p.A162V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 162 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACTCTCCCAGCGGCTGTTGAT 0.343000 5 52 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:533874T>C uc001lpv.3 - 2 370 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 80 71 0 0 1 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18736681 18736681 + Missense_Mutation SNP A A T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr2:18736681A>T uc010exr.3 - 8 1841 c.1729T>A c.(1729-1731)Ttg>Atg p.L577M NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Missense_Mutation_p.L263M NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 0 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding GGTTTGACCAACAGTGGAATG 0.473000 47 133 0 0 1 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998675 8998675 + Silent SNP T T G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr8:8998675T>G uc003wsn.4 - 1 652 c.487A>C c.(487-489)Agg>Cgg p.R163R PPP1R3B_uc003wso.4_Silent_p.R163R|PPP1R3B_uc022arp.1_Silent_p.R163R NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA. 163 CBM21. glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AACGTCATCCTTATTTTCACG 0.512000 80 84 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46663383 46663383 + Silent SNP T T C TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr1:46663383T>C uc001cpg.3 - 1 762 c.111A>G c.(109-111)agA>agG p.R37R POMGNT1_uc010olx.2_5'Flank|POMGNT1_uc010oly.2_5'Flank|POMGNT1_uc010olz.2_5'Flank|POMGNT1_uc001cpe.3_Silent_p.R37R|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Silent_p.R37R NM_001243766 NP_001230695 Q8WZA1 PMGT1_HUMAN Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA. 37 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CCTGACAGAATCTCCGCAGGG 0.602000 31 76 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131223 136131223 + Missense_Mutation SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr9:136131223C>T uc004cda.1 - 7 917 c.892G>A c.(892-894)Gtg>Atg p.V298M ABO_uc010naf.1_Missense_Mutation_p.V158M|ABO_uc011mcz.1_Missense_Mutation_p.V158M|ABO_uc010nag.1_Missense_Mutation_p.V158M NM_020469 NP_065202 P16442 BGAT_HUMAN Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA. 299 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TCGTGCCACACGGCCTCGATG 0.662000 18 75 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768119 41768120 + Missense_Mutation DNP GC GC AG TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:41768119_41768120GC>AG uc001uxw.1 - 0 583_584 c.274_275GC>CT c.(274-276)gcg>CTg p.A92L AK056182_uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA. 92 BTB. protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GTAGGGACACGCAGCTGCTAGC 0.619000 8 46 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271213 1271213 + Missense_Mutation SNP C C A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:1271213C>A uc001lta.3 + 30 13162 c.13103C>A c.(13102-13104)aCg>aAg p.T4368K NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4368 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGCTGACCACGAAGGCCACC 0.642000 133 91 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126180 58126180 + Silent SNP G G A rs146597451 TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:58126180G>A uc010rke.2 - 0 363 c.363C>T c.(361-363)taC>taT p.Y121Y NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACACTGCTGCGTAGCGGTCAT 0.473000 19 74 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23345001 23345001 + Nonsense_Mutation SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr14:23345001C>T uc001whd.3 + 4 1397 c.844C>T c.(844-846)Cag>Tag p.Q282* LRP10_uc001whe.3_Nonsense_Mutation_p.Q158* NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA. 282 CUB 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) ACTGTCTGGCCAGGCTGTTGT 0.582000 39 83 0 0 1 0 0 RFXAP 5994 broad.mit.edu 37 13 37399626 37399626 + Missense_Mutation SNP C C A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:37399626C>A uc001uvu.1 + 1 818 c.662C>A c.(661-663)cCt>cAt p.P221H NM_000538 NP_000529 O00287 RFXAP_HUMAN Homo sapiens regulatory factor X-associated protein (RFXAP), mRNA. 221 C-terminal domain. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) GGGGATCGTCCTGCAAGACCT 0.308000 18 30 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389610 19389610 + Silent SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chrX:19389610C>T uc022btq.1 - 22 3147 c.3147G>A c.(3145-3147)aaG>aaA p.K1049K MAP3K15_uc004czj.2_Silent_p.K484K|MAP3K15_uc004czk.2_Silent_p.K524K|MAP3K15_uc004czi.2_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 1049 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CAATGATTTGCTTGATGTGTC 0.478000 42 59 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149528907 149528907 + Silent SNP T T G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr2:149528907T>G uc010zbt.2 + 9 1698 c.1671T>G c.(1669-1671)gtT>gtG p.V557V NM_015630 NP_056445 Q52LR7 EPC2_HUMAN Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA. 557 DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) ATAAAAGAGTTTCTGCAGCAT 0.383000 19 76 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64028911 64028911 + Missense_Mutation SNP T T G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:64028911T>G uc009ypi.3 + 14 1898 c.1771T>G c.(1771-1773)Tcc>Gcc p.S591A PLCB3_uc009ypg.2_Missense_Mutation_p.S591A|PLCB3_uc009yph.2_Missense_Mutation_p.S524A NM_000932 NP_000923 Q01970 PLCB3_HUMAN Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA. 591 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TGAGGAGATGTCCACGCTTGT 0.607000 11 120 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56373475 56373475 + Silent SNP G G A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr19:56373475G>A uc002qmd.4 + 4 2558 c.2136G>A c.(2134-2136)agG>agA p.R712R NLRP4_uc002qmf.3_Silent_p.R637R|NLRP4_uc010etf.3_Silent_p.R543R NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 712 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGACATCAGGTCCCTCTGTG 0.473000 5 89 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23401754 23401754 + Silent SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr22:23401754C>T uc002zwt.3 - 6 1091 c.933G>A c.(931-933)acG>acA p.T311T NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA. 311 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TGGGCACGTGCGTCTGCAGGG 0.637000 40 140 0 0 1 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50464763 50464763 + Missense_Mutation SNP G G A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:50464763G>A uc001vdk.2 + 0 219 c.37G>A c.(37-39)Ggg>Agg p.G13R Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. GCCTTACTGGGGGCTGGTCCT 0.612000 13 17 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310279 57310279 + Missense_Mutation SNP A A G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:57310279A>G uc021qjh.1 + 0 166 c.164A>G c.(163-165)aAg>aGg p.K55R NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN Homo sapiens smoothelin-like 1 (SMTNL1), mRNA. 55 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AAGCAGGAAAAGGCACCAGCC 0.567000 3 35 0 0 1 0 0