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 MANEAL 149175 broad.mit.edu 37 1 38261411 38261411 + Missense_Mutation SNP G G A TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr1:38261411G>A ENST00000373045.6 + 2 934 c.553G>A c.(553-555)Gtc>Atc p.V185I MANEAL_ENST00000525897.1_5'UTR|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 185 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGTCTCAGGCGTCCTGGTCCT 0.542 17 64 --- --- --- --- CAD 790 broad.mit.edu 37 2 27445189 27445189 + Silent SNP A A G TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr2:27445189A>G ENST00000264705.4 + 4 642 c.480A>G c.(478-480)ccA>ccG p.P160P CAD_ENST00000403525.1_Silent_p.P160P NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 160 GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCCTGGTACCAGAGGTCTCCA 0.542 10 53 --- --- --- --- FSIP2 401024 broad.mit.edu 37 2 186671327 186671327 + Missense_Mutation SNP C C T TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr2:186671327C>T ENST00000343098.5 + 17 17561 c.17561C>T c.(17560-17562)cCc>cTc p.P5854L FSIP2_ENST00000424728.1_Missense_Mutation_p.P5765L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAAAGTGAACCCAGTAAACCA 0.343 3 62 --- --- --- --- FRYL 285527 broad.mit.edu 37 4 48567706 48567706 + Missense_Mutation SNP G G A TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr4:48567706G>A ENST00000537810.1 - 29 3776 c.3172C>T c.(3172-3174)Cac>Tac p.H1058Y FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000503238.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y O94915 FRYL_HUMAN FRY-like 1058 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTTCTCTGGTGCACTGTGAAT 0.338 5 42 --- --- --- --- PRPS1L1 221823 broad.mit.edu 37 7 18067087 18067087 + Missense_Mutation SNP T T C TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr7:18067087T>C ENST00000506618.2 - 1 399 c.319A>G c.(319-321)Atc>Gtc p.I107V NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 107 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TTGGCAGAGATTGGGGACCGG 0.463 4 118 --- --- --- --- NCOA4 8031 broad.mit.edu 37 10 51584630 51584630 + Silent SNP C C G TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr10:51584630C>G ENST00000452682.1 + 9 1029 c.777C>G c.(775-777)gcC>gcG p.A259A NCOA4_ENST00000414907.2_Silent_p.A77A|NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Silent_p.A243A|NCOA4_ENST00000344348.6_Silent_p.A243A NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 243 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CTTCCAGAGCCTGCAATTTCT 0.383 T RET papillary thyroid 9 92 --- --- --- --- NCOA4 8031 broad.mit.edu 37 10 51584701 51584701 + Nonsense_Mutation SNP C C G TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr10:51584701C>G ENST00000452682.1 + 9 1100 c.848C>G c.(847-849)tCa>tGa p.S283* NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267* NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 267 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 AGTGAAAAATCAAGTTATCAA 0.403 T RET papillary thyroid 13 119 --- --- --- --- FAM13C 220965 broad.mit.edu 37 10 61011334 61011334 + Splice_Site SNP C C T TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr10:61011334C>T ENST00000373867.3 - 14 1848 c.e14+1 FAM13C_ENST00000373868.2_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000468840.2_Splice_Site|FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCGACACATACCTTCCTGTTT 0.378 6 149 --- --- --- --- RIC3 79608 broad.mit.edu 37 11 8159870 8159870 + Missense_Mutation SNP C C T TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr11:8159870C>T ENST00000343202.4 - 3 441 c.376G>A c.(376-378)Gag>Aag p.E126K RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000309737.6_Missense_Mutation_p.E126K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 126 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTCCCATCCTCTGCAGTTGTT 0.438 38 159 --- --- --- --- EML3 256364 broad.mit.edu 37 11 62375178 62375178 + Missense_Mutation SNP G G A TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr11:62375178G>A ENST00000394773.2 - 11 1629 c.1322C>T c.(1321-1323)cCt>cTt p.P441L EML3_ENST00000278845.4_Missense_Mutation_p.P442L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000438258.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.P224L NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 441 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CCCATTCCCAGGAACCCCTAC 0.577 5 84 --- --- --- --- ANO4 121601 broad.mit.edu 37 12 101436230 101436230 + Missense_Mutation SNP G G T TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr12:101436230G>T ENST00000392979.3 + 11 1394 c.1033G>T c.(1033-1035)Gat>Tat p.D345Y ANO4_ENST00000392977.3_Missense_Mutation_p.D380Y|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 380 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CACCACTCTGGATCACAGCCA 0.488 HNSCC(74;0.22) 12 93 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59730213 59730213 + Missense_Mutation SNP A A C TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr14:59730213A>C ENST00000395125.1 + 1 41 c.18A>C c.(16-18)agA>agC p.R6S DAAM1_ENST00000556135.1_Missense_Mutation_p.R6S|DAAM1_ENST00000351081.1_Missense_Mutation_p.R6S|DAAM1_ENST00000360909.3_Missense_Mutation_p.R6S NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 6 actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CAAGAAAGAGAGGTGGACGAG 0.413 9 36 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44938585 44938585 + Nonsense_Mutation SNP G G T TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chrX:44938585G>T ENST00000377967.4 + 20 3174 c.3133G>T c.(3133-3135)Gaa>Taa p.E1045* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1045 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTCATTCCAGGAATCATTGAG 0.338 """D, N, F, S""" """renal, oesophageal SCC, MM""" 10 17 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155349888 155349889 + Frame_Shift_Ins INS - - T TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr1:155349888_155349889insT ENST00000368346.3 - 8 6776_6777 c.6137_6138insA c.(6136-6138)aagfs p.K2046fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2046 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGTCAATTCTCTTTTGTCTTAG 0.347 11 74 --- --- --- --- KRT16P6 353194 broad.mit.edu 37 17 16722880 16722881 + RNA DEL AG AG - TCGA-V1-A8ML-01A-11D-A377-08 TCGA-V1-A8ML-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1 291dc91d-9f58-4a35-8a15-ebbc601c6bdb g.chr17:16722880_16722881delAG ENST00000417510.1 - 0 932_933 GGTCCACACCAGGTGCATCGTC 0.554 12 29 --- --- --- ---