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 MECP2 4204 broad.mit.edu 37 X 153296900 153296900 + Splice_Site SNP G G A rs61748382 TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chrX:153296900G>A ENST00000303391.6 - 4 628 c.377_splice c.e4-1 p.P127_splice MECP2_ENST00000453960.2_Splice_Site_p.P139_splice|MECP2_ENST00000407218.1_Splice_Site_p.P127_splice NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 127 MBD. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCTGGGGACTGTGGGGA 0.488000 8 73 0 0 0.038147 0 0 SLC23A2 9962 broad.mit.edu 37 20 4839991 4839991 + Missense_Mutation SNP G G T TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr20:4839991G>T ENST00000379333.1 - 16 2056 c.1664C>A c.(1663-1665)aCa>aAa p.T555K SLC23A2_ENST00000424750.2_Missense_Mutation_p.T441K|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T555K NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 555 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CATAGCAGTTGTGAGAAGGAC 0.433000 36 85 1.57019e-19 4.31803e-19 0.098360 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16810715 16810715 + Silent SNP C C T TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr11:16810715C>T ENST00000355661.3 - 23 3295 c.3285G>A c.(3283-3285)ctG>ctA p.L1095L PLEKHA7_ENST00000532079.1_3'UTR|PLEKHA7_ENST00000448080.2_Silent_p.L1096L|PLEKHA7_ENST00000531066.1_Silent_p.L1095L|PLEKHA7_ENST00000332954.4_5'UTR Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 1095 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CCCCTTGGCCCAGTGTCCTCT 0.647000 3 47 0 0 0.115264 0 0 ESX1 80712 broad.mit.edu 37 X 103498972 103498972 + Silent SNP C C T TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chrX:103498972C>T ENST00000372588.4 - 2 452 c.369G>A c.(367-369)ccG>ccA p.P123P NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 123 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCCCCTCCGCCGGCTGTGGCC 0.682000 8 50 0 0 0.038147 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000463837.1_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 3 10 0 0 0.115264 0 0 HPS1 3257 broad.mit.edu 37 10 100189586 100189586 + Missense_Mutation SNP G G A TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr10:100189586G>A ENST00000325103.6 - 9 1062 c.829C>T c.(829-831)Cac>Tac p.H277Y HPS1_ENST00000338546.5_Missense_Mutation_p.H277Y|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Missense_Mutation_p.H277Y NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 277 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CCCGTGGAGTGAGGGCTCCAG 0.677000 Hermansky-Pudlak syndrome 7 90 0 0 0.047766 0 0 DLGAP2 9228 broad.mit.edu 37 8 1649537 1649537 + Missense_Mutation SNP G G A TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr8:1649537G>A ENST00000421627.2 + 12 3027 c.2893G>A c.(2893-2895)Gag>Aag p.E965K NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 1044 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.E973K(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGACAGCATCGAGATCTACAT 0.716000 4 4 0 0 0.014758 0 0 STK38 11329 broad.mit.edu 37 6 36475299 36475299 + Silent SNP G G A TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr6:36475299G>A ENST00000229812.7 - 8 1035 c.750C>T c.(748-750)aaC>aaT p.N250N NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 250 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAGGCTGTGGTTCAGATTCC 0.418000 114 171 0 0 0.139131 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52390506 52390506 + RNA SNP A A T rs11006369 by1000genomes TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr10:52390506A>T ENST00000443374.1 + 0 1199 CCTTAATAACATCACTCAATT 0.438000 3 34 0 0 0.115264 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028307 21028307 + Frame_Shift_Del DEL A A - TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr12:21028307delA ENST00000381545.3 + 9 1085 c.866delA c.(865-867)gafs p.E289fs LST3_ENST00000540229.1_Frame_Shift_Del_p.E289fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.E289fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.E289fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 289 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CCACAAAAAGAAAGAAAAATT 0.333 19 46 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409537 22409537 + RNA DEL C C - rs57759840 TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr14:22409537delC ENST00000390441.2 + 0 102 ctctctctctctctTTTTTTT 0.418 2 4 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 4 5 --- --- --- ---