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 FRG1B 0 broad.mit.edu 37 20 29628320 29628320 + Nonsense_Mutation SNP G G T TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr20:29628320G>T ENST00000278882.3 + 6 702 c.322G>T c.(322-324)Gaa>Taa p.E108* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGGAGAAGAAGAAATGATCAA 0.373000 5 57 0.00198382 0.00320463 0.001984 1 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 68 0 0 0.000248 0 0 SH3D21 79729 broad.mit.edu 37 1 36786296 36786296 + Missense_Mutation SNP C C A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr1:36786296C>A ENST00000453908.2 + 14 2060 c.2032C>A c.(2032-2034)Caa>Aaa p.Q678K SH3D21_ENST00000312808.4_Missense_Mutation_p.Q324K|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.Q567K|SH3D21_ENST00000426732.2_Missense_Mutation_p.Q562K NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 562 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 GCTGGTCCCGCAAAACTACAC 0.577000 3 39 0.004672 0.00676634 0.004672 1 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 3 52 0 0 0.004672 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 58 0 0 0.004672 0 0 PWP2 5822 broad.mit.edu 37 21 45538677 45538677 + Silent SNP C C A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr21:45538677C>A ENST00000291576.7 + 9 1141 c.1014C>A c.(1012-1014)atC>atA p.I338I NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 338 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGTGGCCATCAATAGCTCGG 0.612000 3 47 0.004672 0.00676634 0.004672 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 56 0 0 0.003080 0 0 PREB 10113 broad.mit.edu 37 2 27357185 27357185 + Silent SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr2:27357185G>A ENST00000260643.2 - 1 358 c.105C>T c.(103-105)ggC>ggT p.G35G PREB_ENST00000406567.3_Silent_p.G35G|PREB_ENST00000416802.1_5'UTR NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 35 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTGGCGGCGCCTCCTCCGC 0.711000 3 15 0 0 0.000248 0 0 NDST2 8509 broad.mit.edu 37 10 75563477 75563477 + Missense_Mutation SNP T T C TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr10:75563477T>C ENST00000299641.4 - 12 2598 c.1628A>G c.(1627-1629)aAt>aGt p.N543S NDST2_ENST00000309979.6_Missense_Mutation_p.N666S NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 666 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) AGTGCTGGCATTGGAAGGAAC 0.493000 45 162 0 0 0.003610 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 56 0 0 0.000248 0 0 FGA 2243 broad.mit.edu 37 4 155505289 155505289 + Missense_Mutation SNP A A G TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr4:155505289A>G ENST00000302053.3 - 6 2666 c.2588T>C c.(2587-2589)cTt>cCt p.L863P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 863 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTGGGTCACAAGGGGCCTAAT 0.448000 3 100 0 0 0.004672 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499718 31499718 + Missense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr16:31499718G>A ENST00000330498.3 + 9 1055 c.1036G>A c.(1036-1038)Gtg>Atg p.V346M AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 346 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity p.V346M(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GGTGGCGTGCGTGGTGCCTGA 0.672000 5 10 0 0 0.000602 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 56 0 0 0.003080 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 92 0 0 0.000602 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352661 58352661 + Missense_Mutation SNP T T A rs148810844 by1000genomes TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr19:58352661T>A ENST00000442832.4 + 3 853 c.619T>A c.(619-621)Ttt>Att p.F207I ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 207 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.F207I(1) TGTGTCTCCCTTTCAGTGTGG 0.493000 3 27 0 0 0.000248 0 0 HLA-E 3133 broad.mit.edu 37 6 30459066 30459066 + Missense_Mutation SNP A A G TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr6:30459066A>G ENST00000376630.4 + 4 828 c.763A>G c.(763-765)Agg>Ggg p.R255G NM_005516.5 NP_005507.3 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 255 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 CGTGGAGACCAGGCCTGCAGG 0.632000 3 89 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 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 36 52 0 0 0.005524 0 0 VPS52 6293 broad.mit.edu 37 6 33235075 33235075 + Missense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr6:33235075G>A ENST00000445902.2 - 11 1233 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Missense_Mutation_p.R214C NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 339 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TTCCTGCTGCGGAGCGATGGC 0.567000 3 55 0 0 0.004672 0 0 EVPL 2125 broad.mit.edu 37 17 74006561 74006561 + Nonsense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr17:74006561G>A ENST00000301607.3 - 22 2978 c.2725C>T c.(2725-2727)Caa>Taa p.Q909* EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q931* NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 909 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCCCTGCTTGGGCAGGGCTC 0.637000 5 26 0 0 0.001168 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 37 0 0 0.004672 0 0 AUP1 550 broad.mit.edu 37 2 74754147 74754147 + Frame_Shift_Del DEL G G - TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr2:74754147delG ENST00000377526.3 - 11 1426 c.1117delC c.(1117-1119)tafs p.L373fs NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 439 CUE. endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 GCAAATGTTAGGGCTGTTGGC 0.542 8 73 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42384560 42384561 + RNA DEL AA AA - TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chrX:42384560_42384561delAA ENST00000411879.1 + 0 523 CAGCCAAGGGAAAAAAAAAAAA 0.322 4 5 --- --- --- ---