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 ZFP69 339559 broad.mit.edu 37 1 40960881 40960881 + Missense_Mutation SNP A A C TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr1:40960881A>C ENST00000372706.1 + 6 1737 c.731A>C c.(730-732)aAa>aCa p.K244T RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T ZFP69 zinc finger protein AGGCACCATAAATATGATACA 0.318 3 20 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152285852 152285852 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr1:152285852A>G ENST00000368799.1 - 3 1545 c.1510T>C c.(1510-1512)Tcc>Ccc p.S504P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 504 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATGCCTGGAGCTGTCTCGT 0.607 Ichthyosis 28 648 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113378681 113378681 + Missense_Mutation SNP A A T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr3:113378681A>T ENST00000316407.4 - 7 2258 c.1848T>A c.(1846-1848)aaT>aaA p.N616K KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 616 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GCACTGAATTATTAGACCCTA 0.448 5 35 --- --- --- --- ADRA2C 152 broad.mit.edu 37 4 3769634 3769634 + Missense_Mutation SNP C C G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr4:3769634C>G ENST00000330055.5 + 1 1510 c.1301C>G c.(1300-1302)cCg>cGg p.P434R ADRA2C_ENST00000509482.1_Intron NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 434 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TCGCTCAACCCGGTCATCTAC 0.597 3 43 --- --- --- --- SMARCA5 8467 broad.mit.edu 37 4 144469277 144469277 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr4:144469277A>G ENST00000283131.3 + 22 3431 c.2969A>G c.(2968-2970)aAg>aGg p.K990R NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 990 SANT 2. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) TGGTTTCTTAAGTCCAGAACT 0.373 2 15 --- --- --- --- ATF6B 1388 broad.mit.edu 37 6 32083517 32083517 + Silent SNP C C T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr6:32083517C>T ENST00000375201.4 - 18 2147 c.2102G>A c.(2101-2103)tGa>tAa p.*701* ATF6B_ENST00000375203.3_Silent_p.*704* Q99941 ATF6B_HUMAN activating transcription factor 6 beta 0 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TGGCAGAGGTCAGGGATGATT 0.617 5 161 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110437366 110437366 + Missense_Mutation SNP C C A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr8:110437366C>A ENST00000378402.5 + 24 2854 c.2750C>A c.(2749-2751)cCa>cAa p.P917Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 917 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATAATTGGCCAGGCGAGTCA 0.338 HNSCC(38;0.096) 2 6 --- --- --- --- OR4C6 219432 broad.mit.edu 37 11 55432916 55432916 + Missense_Mutation SNP C C G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr11:55432916C>G ENST00000314259.3 + 1 303 c.274C>G c.(274-276)Ctc>Gtc p.L92V NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TACCATCTCTCTCAAAGGCTG 0.502 6 52 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115047194 115047194 + Nonstop_Mutation SNP C C A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr11:115047194C>A ENST00000452722.3 - 10 1349 c.1329G>T c.(1327-1329)taG>taT p.*443Y CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y NM_014333.3 NP_055148.3 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) AAAGGCTGATCTAGATGAAGT 0.418 7 74 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335412 16335412 + Missense_Mutation SNP C C A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr17:16335412C>A ENST00000338560.7 + 12 2186 c.1787C>A c.(1786-1788)gCc>gAc p.A596D TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 596 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATCCTGGAAGCCTCCTTGGAG 0.632 7 123 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr17:47696426A>G ENST00000393331.3 - 7 867 c.397T>C c.(397-399)Ttc>Ctc p.F133L SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 5 79 --- --- --- ---