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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All BAHCC1 0 genome.wustl.edu 37 17 79422327 79422327 + Missense_Mutation SNP G G C TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 17 79422327 79422327 G C SNP BAHCC1 ENST00000307745 human ensembl 69_37n +1 known missense c.4480 p.E1494Q 0.986 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 15 0 0.00 19 12 38.71 - - - C19orf40 0 genome.wustl.edu 37 19 33464469 33464469 + Splice_Site SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 19 33464469 33464469 G A SNP C19orf40 ENST00000588258 human ensembl 69_37n +1 known splice_site c.243+1 e2+1 1.000 - - - no_errors C19orf40 HGNC ENSG00000131944 83 0 0.00 76 23 23.23 - - - CLEC4E 0 genome.wustl.edu 37 12 8692538 8692539 + Frame_Shift_Del DEL CT CT - TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 12 8692538 8692539 CT - DEL CLEC4E ENST00000299663 human ensembl 69_37n -1 known frame_shift_del c.43_42 p.G15fs 0.000:0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4E HGNC ENSG00000166523 106 0 0.00 53 8 12.50 - - - CROCCP2 0 genome.wustl.edu 37 1 16950807 16950807 + RNA SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 16950807 16950807 C T SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.483 - - - no_errors CROCCP2 HGNC ENSG00000215908 14 0 0.00 19 7 26.92 - - - CSGALNACT1 0 genome.wustl.edu 37 8 19263493 19263493 + Missense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 8 19263493 19263493 C T SNP CSGALNACT1 ENST00000311540 human ensembl 69_37n -1 known missense c.1397 p.R466Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 74 0 0.00 34 37 52.11 - - - CTSL2 0 genome.wustl.edu 37 9 99798887 99798887 + Missense_Mutation SNP C C G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 9 99798887 99798887 C G SNP CTSL2 ENST00000259470 human ensembl 69_37n -1 known missense c.539 p.G180A 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL2 HGNC ENSG00000136943 150 0 0.00 126 32 20.13 - - - DEPDC7 0 genome.wustl.edu 37 11 33047294 33047294 + Nonsense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 11 33047294 33047294 C T SNP DEPDC7 ENST00000241051 human ensembl 69_37n +1 known nonsense c.163 p.R55* 0.980 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 214 0 0.00 103 49 32.24 - - - EPHB2 0 genome.wustl.edu 37 1 23222000 23222000 + Missense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 23222000 23222000 C T SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known missense c.1627 p.L543F 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 153 0 0.00 114 52 31.33 - - - FAM71F2 0 genome.wustl.edu 37 7 128317709 128317709 + Silent SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 7 128317709 128317709 C T SNP FAM71F2 ENST00000480462 human ensembl 69_37n +1 known silent c.457 p.L153 1.000 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71F2 HGNC ENSG00000205085 66 0 0.00 29 14 32.56 - - - FAM75D1 0 genome.wustl.edu 37 9 84605378 84605378 + Missense_Mutation SNP G G T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 9 84605378 84605378 G T SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.279 p.R93S 0.003 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 311 0 0.00 149 66 30.56 - - - GPR125 0 genome.wustl.edu 37 4 22390523 22390523 + Missense_Mutation SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 4 22390523 22390523 G A SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.2771 p.A924V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 57 0 0.00 35 4 10.26 - - - IP6K2 0 genome.wustl.edu 37 3 48732632 48732633 + Frame_Shift_Ins INS - - C TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 3 48732632 48732633 - C INS IP6K2 ENST00000328631 human ensembl 69_37n -1 known frame_shift_ins c.93_92 p.C31fs 0.631:1.000 NULL pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 104 0 0.00 64 36 36.00 - - - KAT6B 0 genome.wustl.edu 37 10 76739051 76739051 + Missense_Mutation SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 10 76739051 76739051 G A SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known missense c.2185 p.E729K 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 290 1 0.34 105 33 23.91 - - - KRT28 0 genome.wustl.edu 37 17 38954517 38954517 + Missense_Mutation SNP C C G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 17 38954517 38954517 C G SNP KRT28 ENST00000306658 human ensembl 69_37n -1 known missense c.660 p.E220D 0.999 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 196 0 0.00 207 39 15.85 - - - MAP2K4 0 genome.wustl.edu 37 17 12011227 12011228 + Splice_Site INS - - T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 17 12011227 12011228 - T INS MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site_ins c.666+1_666+1 e6+1 1.000:1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 222 0 0.00 73 11 13.10 - - - MIA3 0 genome.wustl.edu 37 1 222801435 222801435 + Silent SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 222801435 222801435 G A SNP MIA3 ENST00000344441 human ensembl 69_37n +1 known silent c.873 p.E291 0.929 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 109 0 0.00 140 24 14.63 - - - MLLT10 0 genome.wustl.edu 37 10 21827790 21827790 + Missense_Mutation SNP T T A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 10 21827790 21827790 T A SNP MLLT10 ENST00000430455 human ensembl 69_37n +1 known missense c.85 p.W29R 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MLLT10 HGNC ENSG00000078403 252 0 0.00 91 57 38.51 - - - PARP14 0 genome.wustl.edu 37 3 122399872 122399872 + Missense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 3 122399872 122399872 C T SNP PARP14 ENST00000474629 human ensembl 69_37n +1 known missense c.142 p.P48S 0.104 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 22 0 0.00 17 8 32.00 - - - PDGFRB 0 genome.wustl.edu 37 5 149510159 149510159 + Missense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 5 149510159 149510159 C T SNP PDGFRB ENST00000261799 human ensembl 69_37n -1 known missense c.1310 p.R437H 0.850 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors PDGFRB HGNC ENSG00000113721 29 0 0.00 23 11 32.35 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 163 0 0.00 57 102 64.15 - - - PSEN2 0 genome.wustl.edu 37 1 227069706 227069706 + Missense_Mutation SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 227069706 227069706 A G SNP PSEN2 ENST00000391872 human ensembl 69_37n +1 known missense c.197 p.E66G 0.998 NULL pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 19 0 0.00 14 27 64.29 - - - PTPN22 0 genome.wustl.edu 37 1 114397570 114397570 + Missense_Mutation SNP A A C TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 114397570 114397570 A C SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known missense c.642 p.C214W 0.978 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 169 0 0.00 85 40 32.00 - - - RIPK1 0 genome.wustl.edu 37 6 3077012 3077012 + RNA DEL G G - TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 6 3077012 3077012 G - DEL RIPK1 ENST00000490396 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RIPK1 HGNC ENSG00000137275 46 0 0.00 20 3 12.50 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037867 10037867 + RNA SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 Y 10037867 10037867 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 42 0 0.00 29 4 12.12 - - - RNF135 0 genome.wustl.edu 37 17 29325839 29325839 + Missense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 17 29325839 29325839 C T SNP RNF135 ENST00000328381 human ensembl 69_37n +1 known missense c.929 p.S310F 0.997 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF135 HGNC ENSG00000181481 69 0 0.00 49 33 40.24 - - - RTL1 0 genome.wustl.edu 37 14 101348922 101348922 + Missense_Mutation SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 14 101348922 101348922 A G SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.2204 p.V735A 0.956 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 103 0 0.00 86 41 32.28 - - - SEC24A 0 genome.wustl.edu 37 5 134059307 134059307 + Silent SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 5 134059307 134059307 C T SNP SEC24A ENST00000398844 human ensembl 69_37n +1 known silent c.3114 p.F1038 0.973 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 286 0 0.00 110 47 29.75 - - - SH3PXD2B 0 genome.wustl.edu 37 5 171766429 171766429 + Missense_Mutation SNP A A C TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 5 171766429 171766429 A C SNP SH3PXD2B ENST00000311601 human ensembl 69_37n -1 known missense c.1680 p.I560M 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 25 0 0.00 30 16 34.78 - - - SI 0 genome.wustl.edu 37 3 164716394 164716394 + Nonsense_Mutation SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 3 164716394 164716394 G A SNP SI ENST00000264382 human ensembl 69_37n -1 known nonsense c.4474 p.R1492* 0.728 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 362 0 0.00 160 81 33.61 - - - SMARCA2 0 genome.wustl.edu 37 9 2116045 2116045 + Missense_Mutation SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 9 2116045 2116045 A G SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.3680 p.N1227S 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 34 0 0.00 21 11 34.38 - - - SVEP1 0 genome.wustl.edu 37 9 113169979 113169979 + Missense_Mutation SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 9 113169979 113169979 A G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.7901 p.F2634S 0.087 NULL pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 56 0 0.00 38 18 32.14 - - - SYNE2 0 genome.wustl.edu 37 14 64636985 64636985 + Silent SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 14 64636985 64636985 G A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.17040 p.R5680 0.150 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 182 0 0.00 80 46 36.51 - - - TARS2 0 genome.wustl.edu 37 1 150479529 150479529 + Missense_Mutation SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 150479529 150479529 G A SNP TARS2 ENST00000369064 human ensembl 69_37n +1 known missense c.2146 p.E716K 0.997 superfamily_Anticodon-bd pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS2 HGNC ENSG00000143374 89 0 0.00 121 49 28.82 - - - TBK1 0 genome.wustl.edu 37 12 64875760 64875760 + Silent SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 12 64875760 64875760 A G SNP TBK1 ENST00000331710 human ensembl 69_37n +1 known silent c.951 p.Q317 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors TBK1 HGNC ENSG00000183735 184 1 0.54 120 37 23.57 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 21 0 0.00 30 9 23.08 - - - TMC5 0 genome.wustl.edu 37 16 19451502 19451502 + Missense_Mutation SNP C C G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 16 19451502 19451502 C G SNP TMC5 ENST00000396229 human ensembl 69_37n +1 known missense c.142 p.P48A 0.001 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 122 0 0.00 76 31 28.97 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 17 7578190 7578190 T G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220S 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 210 0 0.00 68 67 49.63 - - - TSPAN1 0 genome.wustl.edu 37 1 46650495 46650495 + Missense_Mutation SNP C C G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 1 46650495 46650495 C G SNP TSPAN1 ENST00000372003 human ensembl 69_37n +1 known missense c.378 p.I126M 0.997 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN1 HGNC ENSG00000117472 96 0 0.00 78 34 30.36 - - - VPREB1 0 genome.wustl.edu 37 22 22599458 22599458 + Silent SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 22 22599458 22599458 C T SNP VPREB1 ENST00000403807 human ensembl 69_37n +1 known silent c.147 p.I49 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VPREB1 HGNC ENSG00000169575 93 0 0.00 59 24 28.92 - - - WDR7 0 genome.wustl.edu 37 18 54385232 54385232 + Missense_Mutation SNP A A T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 18 54385232 54385232 A T SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known missense c.1616 p.D539V 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 213 1 0.47 35 48 57.83 - - - WHAMMP2 0 genome.wustl.edu 37 15 28991161 28991161 + RNA DEL C C - TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e59b987-b4f0-4078-af2d-482c299103b6 6041e087-636b-4f3c-96d9-202e0d102899 15 28991161 28991161 C - DEL WHAMMP2 ENST00000508764 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 34 0 0.00 9 2 15.38 - - -