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 ZNF92 168374 broad.mit.edu 37 7 64863822 64863822 + Silent SNP T T C TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr7:64863822T>C ENST00000328747.7 + 4 994 c.795T>C c.(793-795)gcT>gcC p.A265A ZNF92_ENST00000431504.1_Silent_p.A189A|ZNF92_ENST00000357512.2_Silent_p.A233A|ZNF92_ENST00000450302.2_Silent_p.A196A NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 265 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) GTGGCAAAGCTTTTAACCGGT 0.373000 3 51 0 0 0.004672 0 0 RGS6 9628 broad.mit.edu 37 14 72961895 72961895 + Missense_Mutation SNP A A G TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr14:72961895A>G ENST00000553530.1 + 13 1097 c.890A>G c.(889-891)gAc>gGc p.D297G RGS6_ENST00000556437.1_Missense_Mutation_p.D297G|RGS6_ENST00000434263.2_Missense_Mutation_p.D228G|RGS6_ENST00000406236.4_Missense_Mutation_p.D297G|RGS6_ENST00000555571.1_Missense_Mutation_p.D297G|RGS6_ENST00000553525.1_Missense_Mutation_p.D297G|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000404301.2_Missense_Mutation_p.D297G|RGS6_ENST00000402788.2_Missense_Mutation_p.D297G|RGS6_ENST00000355512.6_Missense_Mutation_p.D297G|RGS6_ENST00000407322.4_Missense_Mutation_p.D297G|RGS6_ENST00000554782.1_Missense_Mutation_p.D158G NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 297 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GTGGAATATGACCCTTTGATA 0.428000 3 76 0 0 0.004672 0 0 FERMT1 55612 broad.mit.edu 37 20 6065760 6065760 + Missense_Mutation SNP C C G TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr20:6065760C>G ENST00000217289.4 - 12 2334 c.1546G>C c.(1546-1548)Gaa>Caa p.E516Q FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E259Q NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 516 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 ACAAAACATTCTGGGTTCATA 0.418000 3 50 0 0 0.004672 0 0 CHTF18 63922 broad.mit.edu 37 16 845756 845756 + Silent SNP C C T TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr16:845756C>T ENST00000317063.6 + 19 2874 c.2874C>T c.(2872-2874)cgC>cgT p.R958R CHTF18_ENST00000455171.2_Silent_p.R777R|CHTF18_ENST00000262315.9_Silent_p.R749R Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 749 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CAGCCACGCGCAGCCGGGCCA 0.701000 5 13 0 0 0.000602 0 0 HNRNPR 10236 broad.mit.edu 37 1 23645159 23645159 + Silent SNP G G A TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr1:23645159G>A ENST00000478691.1 - 7 811 c.540C>T c.(538-540)ctC>ctT p.L180L HNRNPR_ENST00000374612.1_Silent_p.L278L|HNRNPR_ENST00000426846.2_Silent_p.L118L|HNRNPR_ENST00000606561.1_Silent_p.L139L|HNRNPR_ENST00000374616.3_Silent_p.L281L|HNRNPR_ENST00000302271.6_Silent_p.L278L|HNRNPR_ENST00000427764.2_Silent_p.L240L NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 278 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GTTGATGATAGAGAATAACGT 0.463000 6 17 0 0 0.001168 0 0 OR5J2 282775 broad.mit.edu 37 11 55944860 55944860 + Missense_Mutation SNP T T C rs139886298 TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr11:55944860T>C ENST00000312298.1 + 1 767 c.767T>C c.(766-768)aTc>aCc p.I256T NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GGTACCTTAATCTTTAGCTAC 0.448000 4 63 0 0 0.000602 0 0 INADL 10207 broad.mit.edu 37 1 62550208 62550208 + Nonsense_Mutation SNP C C G TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr1:62550208C>G ENST00000371158.2 + 33 4379 c.4265C>G c.(4264-4266)tCa>tGa p.S1422* INADL_ENST00000316485.6_Nonsense_Mutation_p.S1422*|INADL_ENST00000545929.1_Nonsense_Mutation_p.S95*|INADL_ENST00000543708.1_Nonsense_Mutation_p.S206* NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1422 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCTCCTCTGTCAGTGGACCCC 0.517000 4 44 0 0 0.000248 0 0 CHSY3 337876 broad.mit.edu 37 5 129520924 129520924 + Nonsense_Mutation SNP A A T TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr5:129520924A>T ENST00000305031.4 + 3 2447 c.2089A>T c.(2089-2091)Aga>Tga p.R697* NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 697 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AGAGTTTTCCAGAGGTCTTGG 0.443000 8 30 0 0 0.003080 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135827439 135827439 + Silent SNP G G A TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chrX:135827439G>A ENST00000250617.6 - 4 1607 c.402C>T c.(400-402)aaC>aaT p.N134N ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 134 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CTCCCTGTGGGTTTGTCTGAG 0.433000 53 92 0 0 0.003610 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 3 53 0 0 0.004672 0 0 PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 3 3 --- --- --- --- PDE2A 5138 broad.mit.edu 37 11 72353321 72353329 + In_Frame_Del DEL GCGGCGGCG GCGGCGGCG - TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr11:72353321_72353329delGCGGCGGCG ENST00000334456.5 - 2 358_366 c.113_121delCGCCGCCGC c.(112-123)cag>c p.PPPQ38del PDE2A_ENST00000544570.1_In_Frame_Del_p.PPPQ31del|PDE2A_ENST00000540345.1_In_Frame_Del_p.PPPQ29del|PDE2A_ENST00000418754.2_In_Frame_Del_p.PPPQ38del|PDE2A_ENST00000376450.3_In_Frame_Del_p.PPPQ31del|PDE2A_ENST00000444035.2_In_Frame_Del_p.PPPQ29del|PDE2A_ENST00000540380.1_Intron NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 38 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GCGCATGGCTGCGGCGGCGGCGGCGGCTC 0.727 2 4 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-EM-A2CU-01A-12D-A17V-08 TCGA-EM-A2CU-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 788fbfaa-51bf-42a4-afa6-5b87ed04c2d5 f0c68997-7104-43fb-b949-3ea4b958aab9 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 2 4 --- --- --- ---