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 SETX 23064 broad.mit.edu 37 9 135140069 135140069 + Missense_Mutation SNP G G C TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr9:135140069G>C uc004cbk.3 - 25 7774 c.7591C>G c.(7591-7593)Cct>Gct p.P2531A SETX_uc004cbj.3_Missense_Mutation_p.P2179A|SETX_uc010mzt.3_Missense_Mutation_p.P2117A NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 2531 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCATGAACAGGAGGTCTTTCA 0.488000 3 109 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35065309 35065309 + Missense_Mutation SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr9:35065309G>A uc003zvy.2 - 4 904 c.515C>T c.(514-516)cCt>cTt p.P172L VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.P127L NM_007126 NP_009057 P55072 TERA_HUMAN Homo sapiens valosin containing protein (VCP), mRNA. 172 ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AATGCAATAAGGGCTAGGATC 0.478000 18 40 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115898369 115898369 + Missense_Mutation SNP C C T TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr4:115898369C>T uc003ibu.3 - 2 1719 c.1040G>A c.(1039-1041)gGa>gAa p.G347E NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 347 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCTGAAAATCCAAGGTTGAA 0.323000 4 100 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47369997 47369997 + Silent SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr11:47369997G>A uc021qis.1 - 5 805 c.750C>T c.(748-750)tcC>tcT p.S250S MYBPC3_uc021qir.1_5'UTR NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 250 Ig-like C2-type 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GATTGAAGTTGGAGCAGTCAA 0.577000 7 18 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480652 146480652 + Missense_Mutation SNP T T G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr6:146480652T>G uc010khw.1 + 2 1339 c.869T>G c.(868-870)tTc>tGc p.F290C GRM1_uc010khu.1_Missense_Mutation_p.F290C|GRM1_uc010khv.1_Missense_Mutation_p.F290C|GRM1_uc003qll.2_Missense_Mutation_p.F290C|GRM1_uc011edz.1_Missense_Mutation_p.F290C|GRM1_uc011eea.1_Missense_Mutation_p.F290C NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 290 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTGGTCTGCTTCTGTGAAGGC 0.552000 3 86 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80626733 80626733 + Missense_Mutation SNP G G A rs80124231 by1000genomes TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr5:80626733G>A uc003khl.4 - 13 1473 c.1418C>T c.(1417-1419)tCg>tTg p.S473L RNU5E-1_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 473 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CAAAATGACCGACTTCACTGC 0.398000 15 17 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3828107 3828107 + Nonsense_Mutation SNP A A T TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr16:3828107A>T uc002cvv.3 - 9 2222 c.2018T>A c.(2017-2019)tTa>tAa p.L673* CREBBP_uc002cvw.3_Nonsense_Mutation_p.L635* NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 673 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R672C(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTGTTTATGTAAACGCGACCT 0.433000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 152 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84495624 84495624 + Missense_Mutation SNP A A G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr16:84495624A>G uc010chj.3 + 26 2787 c.2698A>G c.(2698-2700)Agg>Ggg p.R900G ATP2C2_uc002fhx.3_Missense_Mutation_p.R871G|ATP2C2_uc002fhy.3_Missense_Mutation_p.R888G|ATP2C2_uc002fhz.3_Missense_Mutation_p.R720G|ATP2C2_uc002fia.3_Missense_Mutation_p.R182G NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 871 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CGGCTTTCTCAGGAACCACAT 0.587000 3 132 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158623172 158623172 + Missense_Mutation SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr1:158623172G>A uc001fst.1 - 21 3279 c.3080C>T c.(3079-3081)cCa>cTa p.P1027L NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1027 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATAGACAGCTGGGACAATGCC 0.552000 6 76 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873707 91873707 + Missense_Mutation SNP A A G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chrX:91873707A>G uc004efk.2 + 6 4657 c.3812A>G c.(3811-3813)cAg>cGg p.Q1271R PCDH11X_uc004efl.2_Missense_Mutation_p.Q1261R|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.Q1263R|PCDH11X_uc004efn.2_Missense_Mutation_p.Q1253R|PCDH11X_uc004efo.2_Missense_Mutation_p.Q1234R NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 1271 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 CATCGTAGTCAGGCCCAATCA 0.547000 4 258 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 124079864 124079864 + Silent SNP T T C TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr5:124079864T>C uc003ktq.1 - 0 1002 c.819A>G c.(817-819)tcA>tcG p.S273S ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Silent_p.S273S|ZNF608_uc003ktt.1_Silent_p.S273S NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 273 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CCATGAGCCCTGAATCCGGGG 0.562000 4 212 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196675177 196675177 + Silent SNP C C G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr3:196675177C>G uc003fxh.3 - 2 738 c.591G>C c.(589-591)acG>acC p.T197T NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA. 197 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) TAGGGCCCCACGTTACATGGG 0.607000 3 63 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5783841 5783841 + Frame_Shift_Del DEL C C - TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr19:5783841delC uc010xiv.1 - 2 522 c.417delG c.(415-417)gggfs p.G139fs PRR22_uc002mdb.1_Frame_Shift_Del_p.G137fs NM_001134316 NP_001127788 Q8IZ63 PRR22_HUMAN Homo sapiens proline rich 22 (PRR22), mRNA. 137 Pro-rich. endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 GAAACTGGGGCCCCCCGGGTG 0.721 2 4 --- --- --- --- ADAM33 80332 broad.mit.edu 37 20 3652627 3652627 + Frame_Shift_Del DEL G G - TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr20:3652627delG uc002wit.3 - 14 1690 c.1603delC c.(1603-1605)cacfs p.H535fs ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Frame_Shift_Del_p.H535fs|ADAM33_uc002wis.3_Frame_Shift_Del_p.H57fs|ADAM33_uc002wiu.3_Frame_Shift_Del_p.H535fs|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 535 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GGAGCTGGGTGGGAGCCTGAG 0.652 2 4 --- --- --- ---