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 SHROOM2 0 genome.wustl.edu 37 X 9864183 9864183 + Silent SNP G G A TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 X 9864183 9864183 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 1 known silent c.2235 p.P745 0 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 0 no_errors 0 0 0 143 1 0.69 131 11 7.75 64 0 0.00 28 3 9.68 PHKA2 0 genome.wustl.edu 37 X 18966938 18966938 + Missense_Mutation SNP C C T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 X 18966938 18966938 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.461 p.R154H 0.919 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like 0 no_errors 0 0 0 167 0 0 186 28 13.08 318 0 0.00 148 22 12.87 GRIK3 0 genome.wustl.edu 37 1 37307518 37307518 + Missense_Mutation SNP C C T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 1 37307518 37307518 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1349 p.R450Q 1 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt 0 no_errors rs115314874 C->T 0.9998,0.0001997 80 0 0 31 4 11.43 266 0 0.00 110 21 16.03 TAL1 0 genome.wustl.edu 37 1 47685038 47685038 + RNA SNP G G A TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 1 47685038 47685038 G A SNP TAL1 ENST00000459729 human ensembl 74_37 -1 known rna NULL NULL 0.813 0 0 0 no_errors 0 0 0 50 0 0 30 7 18.92 184 0 0.00 109 16 12.70 FMOD 0 genome.wustl.edu 37 1 203316722 203316722 + Missense_Mutation SNP A A G TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 1 203316722 203316722 A G SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.677 p.I226T 0.999 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp 0 no_errors 0 0 0 50 0 0 27 3 10 208 0 0.00 106 17 13.82 GALNT14 0 genome.wustl.edu 37 2 31147089 31147089 + Missense_Mutation SNP G G C TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 2 31147089 31147089 G C SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.1276 p.Q426E 1 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin 0 no_errors 0 0 0 127 0 0 75 8 9.64 340 0 0.00 173 40 18.69 LOC100128164 0 genome.wustl.edu 37 3 169684404 169684404 + RNA SNP G G C TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 3 169684404 169684404 G C SNP LOC100128164 ENST00000469301 human ensembl 74_37 -1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 39 0 0 26 6 17.65 194 0 0.00 165 25 13.16 DOCK2 0 genome.wustl.edu 37 5 169477375 169477375 + Missense_Mutation SNP A A T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 5 169477375 169477375 A T SNP DOCK2 ENST00000256935 human ensembl 74_37 1 known missense c.4187 p.D1396V 0.999 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain 0 no_errors 0 0 0 85 0 0 60 13 17.81 199 0 0.00 116 7 5.69 ZNF318 0 genome.wustl.edu 37 6 43308114 43308114 + Missense_Mutation SNP G G T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 6 43308114 43308114 G T SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.3622 p.P1208T 1 NULL smart_Znf_U1 0 no_errors 0 0 0 62 0 0 50 9 15.25 243 0 0.00 136 21 13.38 LINC00326 0 genome.wustl.edu 37 6 133427333 133427333 + RNA SNP C C T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 6 133427333 133427333 C T SNP LINC00326 ENST00000434443 human ensembl 74_37 1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 88 0 0 41 6 12.77 305 0 0.00 119 19 13.57 KPNA7 0 genome.wustl.edu 37 7 98805085 98805085 + Missense_Mutation SNP G G A TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 7 98805085 98805085 G A SNP KPNA7 ENST00000327442 human ensembl 74_37 -1 known missense c.5 p.P2L 0.399 pfscan_Importin-a_IBB pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB 0 no_errors 0 0 0 70 0 0 62 15 19.48 307 0 0.00 203 33 13.92 KAT6A 0 genome.wustl.edu 37 8 41798719 41798719 + Missense_Mutation SNP C C A TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 8 41798719 41798719 C A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2680 p.A894S 0.004 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger 0 no_errors 0 0 0 91 0 0 60 10 14.29 289 0 0.00 155 33 17.55 RHPN1 0 genome.wustl.edu 37 8 144464787 144464787 + Missense_Mutation SNP C C T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 8 144464787 144464787 C T SNP RHPN1 ENST00000289013 human ensembl 74_37 1 known missense c.1979 p.P660L 0 NULL pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ 0 no_errors 0 0 0 45 0 0 20 4 16.67 41 0 0.00 37 4 9.76 SLC44A1 0 genome.wustl.edu 37 9 108125217 108125217 + Missense_Mutation SNP T T G TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 9 108125217 108125217 T G SNP SLC44A1 ENST00000374720 human ensembl 74_37 1 known missense c.1016 p.F339C 1 pfam_Choline_transptr-like pfam_Choline_transptr-like 0 no_errors 0 0 0 149 0 0 132 19 12.58 436 0 0.00 259 34 11.53 EIF4B 0 genome.wustl.edu 37 12 53400247 53400247 + RNA SNP G G A TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 12 53400247 53400247 G A SNP EIF4B ENST00000549645 human ensembl 74_37 1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 86 0 0 59 9 13.04 158 0 0.00 63 19 23.17 NLRC5 0 genome.wustl.edu 37 16 57095391 57095391 + Missense_Mutation SNP G G T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 16 57095391 57095391 G T SNP NLRC5 ENST00000262510 human ensembl 74_37 1 known missense c.4018 p.V1340L 0.018 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase 0 no_errors 0 0 0 84 0 0 35 5 12.5 75 0 0.00 22 4 15.38 CNTNAP4 0 genome.wustl.edu 37 16 76573634 76573634 + Missense_Mutation SNP A A G TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 16 76573634 76573634 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 1 known missense c.3236 p.Y1079C 1 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G 0 no_errors 0 0 0 127 0 0 149 18 10.78 480 0 0.00 185 36 16.29 ENSG00000261286 0 genome.wustl.edu 37 16 84493053 84493053 + RNA SNP G G A TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 16 84493053 84493053 G A SNP ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 100 0 0 46 16 25.81 114 0 0.00 75 10 11.76 FOXF1 0 genome.wustl.edu 37 16 86544465 86544465 + Missense_Mutation SNP G G T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 16 86544465 86544465 G T SNP FOXF1 ENST00000262426 human ensembl 74_37 1 known missense c.290 p.R97L 1 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head 0 no_errors 0 0 0 114 0 0 62 10 13.89 80 1 1.23 46 9 16.36 LUC7L3 0 genome.wustl.edu 37 17 48823273 48823273 + Nonsense_Mutation SNP C C T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 17 48823273 48823273 C T SNP LUC7L3 ENST00000240304 human ensembl 74_37 1 known nonsense c.886 p.R296* 0.913 NULL pfam_Luc7-rel 0 no_errors 0 0 0 26 0 0 47 5 9.62 146 0 0.00 82 15 15.31 URI1 0 genome.wustl.edu 37 19 30476150 30476150 + Missense_Mutation SNP A A G TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 19 30476150 30476150 A G SNP URI1 ENST00000542441 human ensembl 74_37 1 known missense c.173 p.Y58C 1 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin 0 no_errors 0 0 0 97 0 0 144 17 10.56 454 0 0.00 221 16 6.67 BPIFB1 0 genome.wustl.edu 37 20 31876668 31876668 + Silent SNP C C T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 20 31876668 31876668 C T SNP BPIFB1 ENST00000253354 human ensembl 74_37 1 known silent c.237 p.T79 0 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form 0 no_errors rs370901362 C->T 0.9996,0.0003994 63 0 0 37 7 15.91 135 1 0.74 107 11 9.17 DMXL1 0 genome.wustl.edu 37 5 118580208 118580209 + Frame_Shift_Del DEL AG AG - TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 5 118580208 118580209 AG 0 DEL DMXL1 ENST00000539542 human ensembl 74_37 1 known frame_shift_del c.8859_8860 p.K2953fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 0 no_errors 0 0 0 112 0 0 103 12 10.43 393 0 0.00 245 32 11.55 C11orf86 0 genome.wustl.edu 37 11 66743651 66743652 + Frame_Shift_Ins INS - - T TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 11 66743651 66743652 0 T INS C11orf86 ENST00000308963 human ensembl 74_37 1 known frame_shift_ins c.277_278 p.R94fs 0.826:0.800 NULL NULL 0 no_errors 0 0 0 45 0 0 25 5 16.67 166 0 0.00 97 6 5.83 MT-ATP6 0 genome.wustl.edu 37 MT 8656 8656 + Missense_Mutation SNP A A C TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 MT 8656 8656 A C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 1 known missense c.130 p.T44P NULL pfam_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu 0 no_errors 0 0 0 26 0 0 4 3 42.86 2 0 0.00 2 0 0.00 CEBPA 0 genome.wustl.edu 37 19 33792575 33792575 + Frame_Shift_Del DEL G G - TCGA-4X-A9FD-01A-11D-A423-09 TCGA-4X-A9FD-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1acf70a5-3f66-4379-83cc-9a7956ed25d5 c34cd5b5-6894-4811-9c58-e41f04811a22 19 33792575 33792575 G 0 DEL CEBPA ENST00000498907 human ensembl 74_37 -1 known frame_shift_del c.746 p.P249fs 0.546 pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP 0 no_errors 0 0 0 22 0 0 21 2 8.7 0 0 0.00 0 0 0.00