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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val NLGN4X 0 genome.wustl.edu 37 X 5947401 5947401 + Missense_Mutation SNP C C A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 X 5947401 5947401 C A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.605 p.G202V 0.993 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin 0 no_errors 0 0 0 107 0 0 74 38 33.93 284 0 0.00 117 71 37.77 STARD8 0 genome.wustl.edu 37 X 67943847 67943847 + Silent SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 X 67943847 67943847 G A SNP STARD8 ENST00000374599 human ensembl 74_37 1 known silent c.3078 p.P1026 0.983 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom 0 no_errors rs373631827 G->A 0 46 0 0 27 25 48.08 189 1 0.53 82 47 36.15 GPR119 0 genome.wustl.edu 37 X 129519407 129519407 + Missense_Mutation SNP G G T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 X 129519407 129519407 G T SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known missense c.15 p.F5L 0.127 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn 0 no_errors 0 0 0 47 0 0 26 23 46 291 0 0.00 148 93 38.59 ZFP92 0 genome.wustl.edu 37 X 152685753 152685753 + Silent SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 X 152685753 152685753 C T SNP ZFP92 ENST00000338647 human ensembl 74_37 1 known silent c.228 p.D76 0 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box 0 no_errors 0 0 0 177 0 0 111 12 9.76 237 0 0.00 143 14 8.92 RHD 0 genome.wustl.edu 37 1 25655528 25655528 + Silent SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 1 25655528 25655528 C T SNP RHD ENST00000342055 human ensembl 74_37 1 putative silent c.1383 p.R461 0.003 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD 0 no_errors 0 0 0 116 0 0 52 45 46.39 296 0 0.00 109 96 46.60 PDE4B 0 genome.wustl.edu 37 1 66384468 66384468 + Silent SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 1 66384468 66384468 G A SNP PDE4B ENST00000329654 human ensembl 74_37 1 known silent c.231 p.L77 0.964 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase 0 no_errors 0 0 0 51 0 0 42 9 17.65 276 0 0.00 162 19 10.50 FAM46C 0 genome.wustl.edu 37 1 118166566 118166566 + Missense_Mutation SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 1 118166566 118166566 C T SNP FAM46C ENST00000369448 human ensembl 74_37 1 known missense c.1076 p.P359L 1 NULL pfam_DUF1693 0 no_errors rs557599465 C->T 0 28 0 0 27 14 34.15 363 0 0.00 163 82 33.47 LBX2 0 genome.wustl.edu 37 2 74726543 74726543 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 2 74726543 74726543 G C SNP LBX2 ENST00000377566 human ensembl 74_37 -1 known missense c.122 p.P41R 0.059 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 0 no_errors 0 0 0 111 1 0.89 54 31 36.47 139 0 0.00 42 26 38.24 NR4A2 0 genome.wustl.edu 37 2 157184975 157184975 + Missense_Mutation SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 2 157184975 157184975 C T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.968 p.R323Q 1 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt 0 no_errors 0 0 0 84 0 0 33 24 42.11 343 0 0.00 105 85 44.50 ITIH4 0 genome.wustl.edu 37 3 52858575 52858575 + Nonsense_Mutation SNP C C A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 3 52858575 52858575 C A SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known nonsense c.883 p.E295* 0.996 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A 0 no_errors 0 0 0 35 0 0 19 9 32.14 365 0 0.00 115 87 42.86 SLC7A14 0 genome.wustl.edu 37 3 170185016 170185016 + Missense_Mutation SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 3 170185016 170185016 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.2143 p.E715K 0.986 NULL pfam_AA-permease/SLC12A_dom 0 no_errors rs530931888 C->T 0.9998,0.0001997 43 0 0 20 7 25.93 247 0 0.00 82 32 28.07 ENSG00000249275 0 genome.wustl.edu 37 4 158559166 158559166 + RNA SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 4 158559166 158559166 C T SNP ENSG00000249275 ENST00000507296 human ensembl 74_37 1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 22 0 0 6 7 53.85 27 0 0.00 12 9 42.86 DNAH5 0 genome.wustl.edu 37 5 13916560 13916560 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 5 13916560 13916560 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.1094 p.S365F 0.975 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 0 no_errors 0 0 0 152 1 0.65 72 66 47.83 217 0 0.00 116 85 42.29 DACT2 0 genome.wustl.edu 37 6 168708585 168708585 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 6 168708585 168708585 G C SNP DACT2 ENST00000366795 human ensembl 74_37 -1 known missense c.1852 p.R618G 0.005 NULL NULL 0 no_errors 0 0 0 23 0 0 12 5 29.41 36 0 0.00 5 11 68.75 ELFN1 0 genome.wustl.edu 37 7 1785871 1785871 + Missense_Mutation SNP G G T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 7 1785871 1785871 G T SNP ELFN1 ENST00000424383 human ensembl 74_37 1 known missense c.1639 p.D547Y 0.996 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C 0 no_errors 0 0 0 16 0 0 6 3 33.33 86 0 0.00 25 22 46.81 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 554 0 0 236 178 42.89 170 0 0.00 96 50 34.25 WNK2 0 genome.wustl.edu 37 9 96052266 96052266 + Missense_Mutation SNP A A G TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 9 96052266 96052266 A G SNP WNK2 ENST00000297954 human ensembl 74_37 1 known missense c.4984 p.K1662E 0.846 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 21 0 0 7 8 53.33 169 0 0.00 79 47 37.30 MAMDC4 0 genome.wustl.edu 37 9 139748159 139748159 + RNA SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 9 139748159 139748159 C T SNP MAMDC4 ENST00000485732 human ensembl 74_37 1 known rna NULL NULL 0.001 0 0 0 no_errors 0 0 0 36 0 0 17 12 38.71 41 0 0.00 12 10 43.48 OR4C16 0 genome.wustl.edu 37 11 55339695 55339695 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 11 55339695 55339695 G A SNP OR4C16 ENST00000314634 human ensembl 74_37 1 known missense c.92 p.R31H 0 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn 0 no_errors rs374191202 G->A,T 0.9998,0.0001997,. 76 0 0 34 27 43.55 339 1 0.29 142 74 33.94 MAP4K2 0 genome.wustl.edu 37 11 64563812 64563812 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 11 64563812 64563812 G A SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1684 p.R562W 1 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 44 0 0 28 17 37.78 193 0 0.00 59 65 52.42 TBCEL 0 genome.wustl.edu 37 11 120957785 120957785 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 11 120957785 120957785 G A SNP TBCEL ENST00000422003 human ensembl 74_37 1 known missense c.1255 p.V419M 1 pfscan_Ubiquitin_supergroup pfscan_Ubiquitin_supergroup 0 no_errors 0 0 0 109 0 0 56 42 42.42 492 0 0.00 185 123 39.94 TMEM132D 0 genome.wustl.edu 37 12 130185157 130185157 + Missense_Mutation SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 12 130185157 130185157 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.166 p.A56T 0.992 NULL NULL 0 no_errors 0 0 0 54 0 0 34 16 32 233 0 0.00 106 41 27.89 ITGBL1 0 genome.wustl.edu 37 13 102227854 102227854 + Silent SNP C C T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 13 102227854 102227854 C T SNP ITGBL1 ENST00000376180 human ensembl 74_37 1 known silent c.543 p.D181 0.997 NULL pfam_EGF_extracell,smart_EG-like_dom 0 no_errors 0 0 0 198 0 0 76 59 43.7 286 2 0.69 127 73 36.32 SAFB2 0 genome.wustl.edu 37 19 5591761 5591761 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 19 5591761 5591761 G C SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known missense c.2392 p.Q798E 1 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom 0 no_errors 0 0 0 47 0 0 24 26 52 122 0 0.00 56 39 41.05 DUS3L 0 genome.wustl.edu 37 19 5787673 5787673 + Missense_Mutation SNP A A G TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 19 5787673 5787673 A G SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.1139 p.L380P 1 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase 0 no_errors 0 0 0 17 0 0 17 8 32 185 0 0.00 62 21 25.30 ZNF569 0 genome.wustl.edu 37 19 37903959 37903959 + Missense_Mutation SNP A A G TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 19 37903959 37903959 A G SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1601 p.I534T 0 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box 0 no_errors 0 0 0 98 0 0 39 24 38.1 257 0 0.00 109 74 40.22 ZNF574 0 genome.wustl.edu 37 19 42584756 42584756 + Silent SNP C C G TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 19 42584756 42584756 C G SNP ZNF574 ENST00000222339 human ensembl 74_37 1 known silent c.2268 p.R756 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 0 no_errors 0 0 0 18 0 0 6 13 68.42 36 0 0.00 12 11 47.83 BACH1 0 genome.wustl.edu 37 21 30699208 30699208 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699208 30699208 G A SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1063 p.D355N 0.008 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 35 0 0 25 24 48.98 480 0 0.00 188 270 58.95 BACH1 0 genome.wustl.edu 37 21 30699241 30699241 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699241 30699241 G A SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1096 p.D366N 0.016 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 33 0 0 25 21 45.65 461 0 0.00 183 250 57.74 BACH1 0 genome.wustl.edu 37 21 30699274 30699274 + Nonsense_Mutation SNP G G T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699274 30699274 G T SNP BACH1 ENST00000286800 human ensembl 74_37 1 known nonsense c.1129 p.E377* 0.984 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 32 0 0 22 22 50 440 0 0.00 179 230 56.23 BACH1 0 genome.wustl.edu 37 21 30699313 30699313 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699313 30699313 G C SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1168 p.E390Q 1 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 30 0 0 13 13 50 404 0 0.00 158 195 55.24 BACH1 0 genome.wustl.edu 37 21 30699589 30699589 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699589 30699589 G C SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1444 p.D482H 0.073 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 79 0 0 30 37 55.22 457 0 0.00 181 216 54.41 BACH1 0 genome.wustl.edu 37 21 30699613 30699613 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699613 30699613 G C SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1468 p.E490Q 0.996 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 64 0 0 30 32 51.61 487 0 0.00 191 214 52.58 BACH1 0 genome.wustl.edu 37 21 30699649 30699649 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699649 30699649 G A SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1504 p.D502N 0.995 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 63 0 0 27 29 51.79 472 1 0.21 177 207 53.91 BACH1 0 genome.wustl.edu 37 21 30699664 30699664 + Missense_Mutation SNP G G C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699664 30699664 G C SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1519 p.D507H 1 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 62 0 0 25 28 51.85 436 0 0.00 169 205 54.81 BACH1 0 genome.wustl.edu 37 21 30699682 30699682 + Missense_Mutation SNP G G A TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 30699682 30699682 G A SNP BACH1 ENST00000286800 human ensembl 74_37 1 known missense c.1537 p.E513K 1 superfamily_TF_DNA-bd pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP 0 no_errors 0 0 0 62 0 0 22 32 59.26 415 1 0.24 159 208 56.52 PDE4B 0 genome.wustl.edu 37 1 66384467 66384468 + Frame_Shift_Ins INS - - AA TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 - - - AA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 1 66384467 66384468 0 AA INS PDE4B ENST00000329654 human ensembl 74_37 1 known frame_shift_ins c.230_231 p.P78fs 0.973:0.964 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase 0 no_errors 0 0 0 51 0 0 42 9 17.65 277 0 0.00 163 17 9.44 DTX3L 0 genome.wustl.edu 37 3 122288784 122288791 + Frame_Shift_Del DEL TTTCACTG TTTCACTG - TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 TTTCACTG TTTCACTG TTTCACTG - TTTCACTG TTTCACTG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 3 122288784 122288791 TTTCACTG 0 DEL DTX3L ENST00000296161 human ensembl 74_37 1 known frame_shift_del c.1848_1855 p.T618fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL smart_Znf_RING,pfscan_Znf_RING 0 no_errors 0 0 0 44 0 0 25 5 16.67 350 0 0.00 161 18 10.06 WHSC1 0 genome.wustl.edu 37 4 1980558 1980559 + Frame_Shift_Ins INS - - C TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 4 1980558 1980559 0 C INS WHSC1 ENST00000382891 human ensembl 74_37 1 known frame_shift_ins c.4020_4021 p.E1343fs 0.734:0.982 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom 0 no_errors 0 0 0 19 0 0 12 6 33.33 112 2 1.75 47 27 36.49 MPHOSPH9 0 genome.wustl.edu 37 12 123706353 123706356 + Frame_Shift_Del DEL TTGT TTGT - TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 TTGT TTGT TTGT - TTGT TTGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 12 123706353 123706356 TTGT 0 DEL MPHOSPH9 ENST00000606320 human ensembl 74_37 -1 novel frame_shift_del c.438_435 p.Q146fs 0.000:0.001:0.010:0.006 NULL superfamily_Prefoldin 0 no_errors 0 0 0 74 0 0 38 21 35.59 452 0 0.00 213 97 31.29 ACSS1 0 genome.wustl.edu 37 20 25004221 25004231 + Frame_Shift_Del DEL CCACCACGCGC CCACCACGCGC - TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 CCACCACGCGC CCACCACGCGC CCACCACGCGC - CCACCACGCGC CCACCACGCGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 20 25004221 25004231 CCACCACGCGC 0 DEL ACSS1 ENST00000323482 human ensembl 74_37 -1 known frame_shift_del c.688_678 p.R227fs 0.988:0.060:0.058:0.015:0.198:0.204:0.106:0.008:0.991:0.993:0.961 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig 0 no_errors 0 0 0 38 0 0 42 4 8.7 161 0 0.00 73 15 17.05 KRTAP10-6 0 genome.wustl.edu 37 21 46011494 46011494 + Missense_Mutation SNP G G T TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 21 46011494 46011494 G T SNP KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known missense c.872 p.A291D 0 NULL NULL 0 no_errors 0 0 0 67 0 0 37 3 7.5 10 0 0.00 5 0 0.00 RPL29 0 genome.wustl.edu 37 3 52028090 52028090 + Frame_Shift_Del DEL T T - TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 3 52028090 52028090 T 0 DEL RPL29 ENST00000294189 human ensembl 74_37 -1 known frame_shift_del c.155 p.K52fs 1 NULL pfam_Ribosomal_L29e 0 no_errors 0 0 0 77 0 0 39 3 7.14 5 0 0.00 4 0 0.00 ATRN 0 genome.wustl.edu 37 20 3452004 3452006 + In_Frame_Del DEL GCG GCG - TCGA-ZB-A969-01A-11D-A428-09 TCGA-ZB-A969-11A-11D-A42B-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5d0ee62-548f-47f5-a81f-08283357a321 96120df2-4b62-4a53-abbb-2b7564156339 20 3452004 3452006 GCG 0 DEL ATRN ENST00000262919 human ensembl 74_37 1 known in_frame_del c.250_252 p.A87in_frame_del 1.000:1.000:1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin 0 no_errors 0 0 0 10 0 0 6 2 25 11 0 0.00 4 0 0.00