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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF RGS7 0 genome.wustl.edu 37 1 240969581 240969581 + Missense_Mutation SNP T T G TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 1 240969581 240969581 T G SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.1128 p.E376D 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 187 0 0 89 7 7.29167 AHNAK 0 genome.wustl.edu 37 11 62291408 62291408 + Missense_Mutation SNP A A C TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 11 62291408 62291408 A C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.10481 p.V3494G 0.973 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 149 0 0 75 4 5.06329 WSCD2 0 genome.wustl.edu 37 12 108603931 108603931 + Silent SNP C C T TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 12 108603931 108603931 C T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.531 p.A177 0.605 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 89 0 0 67 7 9.45946 SART3 0 genome.wustl.edu 37 12 108923993 108923993 + Missense_Mutation SNP T T C TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 12 108923993 108923993 T C SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1841 p.K614R 0.976 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 203 1 0.490196 86 10 10.4167 JAG2 0 genome.wustl.edu 37 14 105609123 105609123 + Missense_Mutation SNP G G A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 14 105609123 105609123 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.3626 p.P1209L 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 34 0 0 30 3 9.09091 CHEK2P2 0 genome.wustl.edu 37 15 20496770 20496770 + RNA SNP T T C TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 15 20496770 20496770 T C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.053 - - - no_errors CHEK2P2 HGNC ENSG00000259156 27 0 0 13 6 31.5789 PPP4R1 0 genome.wustl.edu 37 18 9570581 9570581 + Missense_Mutation SNP T T C TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 18 9570581 9570581 T C SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.1147 p.M383V 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 127 0 0 72 5 6.49351 RHPN2 0 genome.wustl.edu 37 19 33498986 33498986 + Missense_Mutation SNP T T G TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 19 33498986 33498986 T G SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.694 p.T232P 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 51 0 0 32 4 11.1111 MAP2K2 0 genome.wustl.edu 37 19 4110645 4110645 + Silent SNP G G A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 19 4110645 4110645 G A SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known silent c.312 p.H104 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 63 0 0 51 4 7.27273 GNAS 0 genome.wustl.edu 37 20 57429951 57429951 + Missense_Mutation SNP G G A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 20 57429951 57429951 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.1631 p.R544Q 0.998 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 26 0 0 20 3 13.0435 ZNF512B 0 genome.wustl.edu 37 20 62592661 62592661 + Splice_Site SNP C C T TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 20 62592661 62592661 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known splice_site c.2427+1 e15+1 1.000 - - - no_errors ZNF512B HGNC ENSG00000196700 77 0 0 63 6 8.69565 ARVCF 0 genome.wustl.edu 37 22 19961298 19961298 + Missense_Mutation SNP C C A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 22 19961298 19961298 C A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.2107 p.A703S 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 179 0 0 113 9 7.37705 MST1 0 genome.wustl.edu 37 3 49723792 49723792 + Nonsense_Mutation SNP G G A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 3 49723792 49723792 G A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known nonsense c.970 p.Q324* 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 45 0 0 37 4 9.7561 CCDC112 0 genome.wustl.edu 37 5 114611197 114611197 + Missense_Mutation SNP A A C TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 5 114611197 114611197 A C SNP CCDC112 ENST00000379611 human ensembl 74_37 -1 known missense c.634 p.F212V 0.824 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 177 0 0 74 5 6.32911 SPARC 0 genome.wustl.edu 37 5 151045986 151045986 + Missense_Mutation SNP A A T TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 5 151045986 151045986 A T SNP SPARC ENST00000231061 human ensembl 74_37 -1 known missense c.670 p.Y224N 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 109 0 0 59 4 6.34921 SGK1 0 genome.wustl.edu 37 6 134492798 134492798 + Missense_Mutation SNP A A C TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 6 134492798 134492798 A C SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.1144 p.L382V 0.996 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 73 0 0 54 4 6.89655 WEE2 0 genome.wustl.edu 37 7 141424832 141424832 + Missense_Mutation SNP C C T TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 7 141424832 141424832 C T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.1228 p.R410W 0.659 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 154 0 0 86 5 5.49451 OXR1 0 genome.wustl.edu 37 8 107719383 107719383 + Missense_Mutation SNP A A G TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 8 107719383 107719383 A G SNP OXR1 ENST00000497705 human ensembl 74_37 +1 known missense c.1433 p.Y478C 0.007 NULL pfam_LysM_dom,pfam_GRAM,smart_LysM_dom - no_errors OXR1 HGNC ENSG00000164830 66 0 0 35 4 10.2564 MT-ND5 0 genome.wustl.edu 37 MT 13466 13466 + Missense_Mutation SNP G G A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 MT 13466 13466 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1130 p.S377N NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 107 0 0 20 4 16.6667 MT-CO2 0 genome.wustl.edu 37 MT 8166 8166 + Missense_Mutation SNP G G A TCGA-HU-A4HB-01A-12D-A25D-08 TCGA-HU-A4HB-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b05e19b7-8ecd-4062-95e3-0d3e9ce55d73 ffe4d39e-2260-4a22-a99c-ff0965307c00 MT 8166 8166 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.581 p.G194D NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 97 0 0 21 3 12.5