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 BOLL 66037 broad.mit.edu 37 2 198640461 198640461 + Missense_Mutation SNP C C G TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr2:198640461C>G ENST00000321801.7 - 5 886 c.316G>C c.(316-318)Gaa>Caa p.E106Q BOLL_ENST00000282278.8_Intron|BOLL_ENST00000430004.1_Missense_Mutation_p.E94Q|BOLL_ENST00000433157.1_Missense_Mutation_p.E94Q|BOLL_ENST00000392296.4_Missense_Mutation_p.E94Q NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 94 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 TTAAGTTTTTCAGCCtaaaat 0.249000 10 39 0 0 0.069234 0 0 DNM1P47 0 broad.mit.edu 37 15 102292807 102292807 + RNA SNP C C A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr15:102292807C>A ENST00000561463.1 + 0 853 p.T132N(1) CCAACCTGCACTCGCGTGGGA 0.607000 3 28 1.23904e-05 1.37671e-05 0.014758 1 0 CLTCL1 8218 broad.mit.edu 37 22 19195776 19195776 + Missense_Mutation SNP T T C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr22:19195776T>C ENST00000263200.10 - 22 3560 c.3488A>G c.(3487-3489)aAg>aGg p.K1163R CLTCL1_ENST00000427926.1_Missense_Mutation_p.K1163R|CLTCL1_ENST00000353891.5_Missense_Mutation_p.K1163R NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1163 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) CTCACGGCCCTTTTTCCTGGC 0.403000 T ? ALCL 3 90 0 0 0.150653 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533408 85533408 + Missense_Mutation SNP A A T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr2:85533408A>T ENST00000282111.3 + 9 1344 c.1069A>T c.(1069-1071)Atg>Ttg p.M357L NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 357 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CATGTTGTATATGAAGGAGAT 0.512000 22 58 0 0 0.091800 0 0 MYLK 4638 broad.mit.edu 37 3 123420311 123420311 + Silent SNP C C T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr3:123420311C>T ENST00000360772.3 - 18 2814 c.2436G>A c.(2434-2436)caG>caA p.Q812Q MYLK_ENST00000360304.3_Silent_p.Q812Q|MYLK_ENST00000359169.1_Silent_p.Q812Q|MYLK_ENST00000346322.5_Silent_p.Q743Q|MYLK_ENST00000475616.1_Silent_p.Q812Q Q15746 MYLK_HUMAN myosin light chain kinase 812 Ig-like C2-type 6. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGAGCTGTTCTGTAGCATCA 0.607000 32 170 0 0 0.074837 0 0 LGI3 203190 broad.mit.edu 37 8 22009364 22009364 + Missense_Mutation SNP T T C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr8:22009364T>C ENST00000306317.2 - 6 933 c.644A>G c.(643-645)gAg>gGg p.E215G LGI3_ENST00000424267.2_Missense_Mutation_p.E191G NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 215 LRRCT. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) GCAATCGAACTCCCGCAGCGG 0.647000 52 133 0 0 0.139131 0 0 CHD5 26038 broad.mit.edu 37 1 6194802 6194802 + Silent SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr1:6194802G>C ENST00000262450.3 - 19 3087 c.2988C>G c.(2986-2988)ccC>ccG p.P996P CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 996 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGAAGAGGTAGGGGTGGTTGC 0.587000 76 195 0 0 0.139131 0 0 CENPW 387103 broad.mit.edu 37 6 126661490 126661490 + Missense_Mutation SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr6:126661490G>A ENST00000368328.4 + 1 171 c.71G>A c.(70-72)cGa>cAa p.R24Q CENPW_ENST00000368326.1_Missense_Mutation_p.R24Q|CENPW_ENST00000368325.1_Missense_Mutation_p.R24Q Q5EE01 CENPW_HUMAN centromere protein W 24 chromosome, centromeric region|nucleus DNA binding kidney(2)|large_intestine(1)|lung(3) 6 TTTCTAAAGCGAGTCTTCAAG 0.542000 26 52 0 0 0.134883 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 46 0 0 0.115264 0 0 TENM2 57451 broad.mit.edu 37 5 167655023 167655023 + Missense_Mutation SNP T T C rs6859235 TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr5:167655023T>C ENST00000519204.1 + 24 5163 c.5045T>C c.(5044-5046)aTt>aCt p.I1682T TENM2_ENST00000545108.1_Missense_Mutation_p.I1802T|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627T|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564T|TENM2_ENST00000518659.1_Missense_Mutation_p.I1803T teneurin transmembrane protein 2 ACCCCCACCATTGGACGCTGC 0.512000 19 31 0 0 0.069288 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004811 75004811 + Missense_Mutation SNP T T C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chrX:75004811T>C ENST00000373359.2 - 1 268 c.76A>G c.(76-78)Ata>Gta p.I26V NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 26 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTAGCTTGTATTTCACCTCTG 0.572000 19 65 0 0 0.055883 0 0 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A A C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chrX:37027200A>C ENST00000358047.3 + 1 769 c.717A>C c.(715-717)ccA>ccC p.P239P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 239 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGGAGCCTCCAGAGACTGGAG 0.637000 4 131 0 0 0.150653 0 0 TRIM28 10155 broad.mit.edu 37 19 59056853 59056853 + Missense_Mutation SNP C C A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr19:59056853C>A ENST00000253024.5 + 2 691 c.402C>A c.(400-402)ttC>ttA p.F134L TRIM28_ENST00000341753.6_Intron NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 134 RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) AGAATTATTTCATGCGTGATA 0.552000 4 216 0.0215528 0.022296 0.021553 1 0 MUC7 4589 broad.mit.edu 37 4 71347138 71347138 + Missense_Mutation SNP C C T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr4:71347138C>T ENST00000413702.1 + 4 965 c.677C>T c.(676-678)cCa>cTa p.P226L MUC7_ENST00000456088.1_Missense_Mutation_p.P226L|MUC7_ENST00000304887.5_Missense_Mutation_p.P226L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 226 Thr-rich. extracellular region protein binding p.P226L(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCAGCTCCACCATCTTCCTCA 0.582000 6 376 0 0 0.029380 0 0 DNM1P47 0 broad.mit.edu 37 15 102292801 102292801 + RNA SNP C C A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr15:102292801C>A ENST00000561463.1 + 0 847 p.T130N(1) TGCTGTCCAACCTGCACTCGC 0.597000 3 30 1.23904e-05 1.37671e-05 0.014758 1 0 MDN1 23195 broad.mit.edu 37 6 90384187 90384187 + Missense_Mutation SNP T T A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr6:90384187T>A ENST00000369393.3 - 79 12998 c.12883A>T c.(12883-12885)Atg>Ttg p.M4295L MDN1_ENST00000428876.1_Missense_Mutation_p.M4295L|RP1-122O8.7_ENST00000438877.1_RNA Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4295 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGGCACTGCATGGCCAGGTGC 0.652000 9 19 0 0 0.069234 0 0 FAM47C 442444 broad.mit.edu 37 X 37027870 37027870 + Missense_Mutation SNP C C A rs140431595 TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chrX:37027870C>A ENST00000358047.3 + 1 1439 c.1387C>A c.(1387-1389)Cac>Aac p.H463N NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 463 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GTCCAGTCTCCACCTGGAGCC 0.632000 4 145 0.000602214 0.00064523 0.014758 1 0 HUWE1 10075 broad.mit.edu 37 X 53652121 53652121 + Missense_Mutation SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chrX:53652121G>C ENST00000342160.3 - 17 2045 c.1588C>G c.(1588-1590)Cat>Gat p.H530D HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D|HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 530 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAAATACCATGTCGTATGCCA 0.408000 4 131 0 0 0.021553 0 0 NUTM2F 54754 broad.mit.edu 37 9 97082748 97082748 + Missense_Mutation SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr9:97082748G>C ENST00000253262.4 - 5 1130 c.1110C>G c.(1108-1110)aaC>aaG p.N370K NUTM2F_ENST00000341207.4_Intron|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F GCAGGTGGGCGTTGGTCTCCG 0.692000 3 80 0 0 0.115264 0 0 ZNF92 168374 broad.mit.edu 37 7 64863789 64863789 + Silent SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr7:64863789G>A ENST00000328747.7 + 4 961 c.762G>A c.(760-762)gaG>gaA p.E254E ZNF92_ENST00000450302.2_Silent_p.E185E|ZNF92_ENST00000431504.1_Silent_p.E178E|ZNF92_ENST00000357512.2_Silent_p.E222E NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ATACTGGAGAGAAACCCTACA 0.353000 4 102 0 0 0.021553 0 0 SYNE1 23345 broad.mit.edu 37 6 152590391 152590391 + Missense_Mutation SNP C C A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr6:152590391C>A ENST00000367255.5 - 99 19205 c.18604G>T c.(18604-18606)Gtt>Ttt p.V6202F SYNE1_ENST00000423061.1_Missense_Mutation_p.V6131F|SYNE1_ENST00000356820.4_Missense_Mutation_p.V726F|SYNE1_ENST00000341594.5_Missense_Mutation_p.V5814F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6202F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6131F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6202 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTTAGGTCAACATCGCTCTCC 0.562000 HNSCC(10;0.0054) 28 84 1.08312e-15 1.29974e-15 0.144211 1 0 DTX1 1840 broad.mit.edu 37 12 113532726 113532726 + Missense_Mutation SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr12:113532726G>C ENST00000257600.3 + 6 1863 c.1360G>C c.(1360-1362)Gtg>Ctg p.V454L DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 454 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTGTGCCTCGTGGCCATGTA 0.657000 49 94 0 0 0.139131 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 0.368000 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 25 82 0 0 0.116897 0 0 ZNF57 126295 broad.mit.edu 37 19 2917961 2917961 + Missense_Mutation SNP C C T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr19:2917961C>T ENST00000306908.5 + 4 1490 c.1342C>T c.(1342-1344)Cat>Tat p.H448Y AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.H416Y NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCAGCTCCATAAATGTGA 0.443000 4 129 0 0 0.014758 0 0 RASAL1 8437 broad.mit.edu 37 12 113541981 113541981 + Silent SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr12:113541981G>A ENST00000546530.1 - 18 2241 c.1956C>T c.(1954-1956)acC>acT p.T652T RASAL1_ENST00000446861.3_Silent_p.T622T|RASAL1_ENST00000548055.1_Silent_p.T651T|RASAL1_ENST00000261729.5_Silent_p.T650T|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 650 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 ACTGGAGGTAGGTGGTGTGCA 0.697000 8 33 0 0 0.080935 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659166 50659166 + Missense_Mutation SNP T T C rs145066767 TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr22:50659166T>C ENST00000439308.2 - 16 4114 c.3622A>G c.(3622-3624)Acc>Gcc p.T1208A TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1208 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGTGGCCGGGTGGGAGCCATG 0.622000 6 171 0 0 0.038147 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27538642 27538642 + RNA SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr10:27538642G>C ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GTAACCTCTTGATATACTGGA 0.473000 20 98 0 0 0.043863 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162556 90162556 + RNA SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr16:90162556G>A ENST00000564451.1 + 0 1909 TUBB8P7_ENST00000567960.1_RNA p.E430*(1) TGCCACGGCCGAGGAGGAGGA 0.517000 4 206 0 0 0.029380 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 7 100 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGCGGCGGAGGCTGCTGCTGCTG 0.764 3 5 --- --- --- --- CDK5 1020 broad.mit.edu 37 7 150754217 150754217 + Frame_Shift_Del DEL T T - TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr7:150754217delT ENST00000485972.1 - 2 749 c.68delA c.(67-69)acfs p.N23fs CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 23 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) AGTCTCCCGGTTTTTGGCCTT 0.582 7 528 --- --- --- --- KB-1047C11.2 0 broad.mit.edu 37 8 96287848 96287849 + RNA INS - - CCTCCCTG TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr8:96287848_96287849insCCTCCCTG ENST00000521905.1 + 0 55 ctctctccctccctccctgcct 0.446 4 2 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 8 142 --- --- --- --- RP11-327I22.6 0 broad.mit.edu 37 9 43140785 43140785 + RNA DEL A A - TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr9:43140785delA ENST00000453939.1 - 0 133 NR_027472.1 GGCAGAGTGGAAACTGCAACT 0.468 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - TT rs148140777 by1000genomes TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr10:118396277_118396278insTT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 5 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045758 15045759 + Frame_Shift_Ins INS - - GT TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr16:15045758_15045759insGT ENST00000328085.6 + 8 929_930 c.929_930insGT c.(928-930)gtgfs p.V310fs NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 ACACCTCCCGAGTGTCTGCTCA 0.559 9 289 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19752073 19752075 + In_Frame_Del DEL ACC ACC - TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr18:19752073_19752075delACC ENST00000269216.3 + 2 1245_1247 c.968_970delACC c.(967-972)tac>t p.YH323del GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 323 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) AACGGGACGTaccaccaccacca 0.749 3 5 --- --- --- ---