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 ABCA12 0 genome.wustl.edu 37 2 215818580 215818580 + Silent SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 2 215818580 215818580 G A SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known silent c.6645 p.L2215 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 49 0 0.00 53 15 22.06 - - - ACAP3 0 genome.wustl.edu 37 1 1238556 1238556 + Missense_Mutation SNP C C T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 1 1238556 1238556 C T SNP ACAP3 ENST00000353662 human ensembl 69_37n -1 known missense c.85 p.D29N 0.985 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 9 0 0.00 18 4 18.18 - - - ALAD 0 genome.wustl.edu 37 9 116155798 116155798 + Silent SNP T T C TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 9 116155798 116155798 T C SNP ALAD ENST00000409155 human ensembl 69_37n -1 known silent c.42 p.P14 0.003 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 70 0 0.00 129 26 16.67 - - - CDH23 0 genome.wustl.edu 37 10 73501658 73501658 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 10 73501658 73501658 G A SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.4834 p.E1612K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 15 0 0.00 22 7 24.14 - - - CTCF 0 genome.wustl.edu 37 16 67645412 67645412 + Missense_Mutation SNP A A G TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 16 67645412 67645412 A G SNP CTCF ENST00000264010 human ensembl 69_37n +1 known missense c.677 p.Y226C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 73 0 0.00 30 10 25.00 - - - FLNB 0 genome.wustl.edu 37 3 58154202 58154202 + Missense_Mutation SNP G G T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 3 58154202 58154202 G T SNP FLNB ENST00000295956 human ensembl 69_37n +1 known missense c.7234 p.A2412S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 76 0 0.00 44 21 32.31 - - - HTRA1 0 genome.wustl.edu 37 10 124269648 124269648 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 10 124269648 124269648 G A SNP HTRA1 ENST00000368984 human ensembl 69_37n +1 known missense c.1157 p.R386Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 55 0 0.00 42 18 30.00 - - - IFT140 0 genome.wustl.edu 37 16 1570681 1570681 + Silent SNP C C T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 16 1570681 1570681 C T SNP IFT140 ENST00000426508 human ensembl 69_37n -1 known silent c.3582 p.Q1194 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 14 0 0.00 11 13 54.17 - - - KIF21B 0 genome.wustl.edu 37 1 200969064 200969064 + Missense_Mutation SNP C C T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 1 200969064 200969064 C T SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.1714 p.A572T 0.841 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 114 0 0.00 189 31 14.09 - - - LTV1 0 genome.wustl.edu 37 6 144184640 144184640 + Silent SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 6 144184640 144184640 G A SNP LTV1 ENST00000367576 human ensembl 69_37n +1 known silent c.1404 p.K468 0.732 NULL pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 57 0 0.00 71 22 23.66 - - - MAGEL2 0 genome.wustl.edu 37 15 23889494 23889494 + Missense_Mutation SNP G G C TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 15 23889494 23889494 G C SNP MAGEL2 ENST00000532292 human ensembl 69_37n -1 known missense c.1587 p.I529M 0.138 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 37 0 0.00 50 14 21.88 - - - MUC4 0 genome.wustl.edu 37 3 195506258 195506258 + Missense_Mutation SNP G G C TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 3 195506258 195506258 G C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.12193 p.L4065V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 126 0 0.00 114 54 32.14 - - - PAPPA 0 genome.wustl.edu 37 9 119106938 119106938 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 9 119106938 119106938 G A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.3728 p.R1243Q 0.158 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 36 0 0.00 64 11 14.67 - - - PEX13 0 genome.wustl.edu 37 2 61258802 61258802 + Missense_Mutation SNP C C G TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 2 61258802 61258802 C G SNP PEX13 ENST00000295030 human ensembl 69_37n +1 known missense c.341 p.P114R 1.000 pfam_Peroxin-13_N pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 108 0 0.00 81 28 25.23 - - - PRR5L 0 genome.wustl.edu 37 11 36453429 36453429 + Silent SNP C C T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 11 36453429 36453429 C T SNP PRR5L ENST00000378867 human ensembl 69_37n +1 known silent c.321 p.F107 0.999 pfam_HbrB pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 164 0 0.00 160 43 21.18 - - - RGSL1 0 genome.wustl.edu 37 1 182517845 182517845 + Missense_Mutation SNP C C A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 1 182517845 182517845 C A SNP RGSL1 ENST00000294854 human ensembl 69_37n +1 known missense c.2819 p.P940H 0.970 superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 82 0 0.00 125 22 14.97 - - - RPS6KA1 0 genome.wustl.edu 37 1 26882081 26882081 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 1 26882081 26882081 G A SNP RPS6KA1 ENST00000531382 human ensembl 69_37n +1 known missense c.908 p.R303Q 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 42 0 0.00 39 9 18.75 - - - SCAMP5 0 genome.wustl.edu 37 15 75305052 75305052 + Silent SNP C C T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 15 75305052 75305052 C T SNP SCAMP5 ENST00000562212 human ensembl 69_37n +1 known silent c.42 p.F14 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 81 0 0.00 74 19 20.43 - - - SH3BP4 0 genome.wustl.edu 37 2 235950440 235950440 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 2 235950440 235950440 G A SNP SH3BP4 ENST00000344528 human ensembl 69_37n +1 known missense c.1027 p.E343K 1.000 pfam_ZU5 pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 8 0 0.00 8 4 33.33 - - - TACC2 0 genome.wustl.edu 37 10 123845984 123845984 + Silent SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 10 123845984 123845984 G A SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known silent c.3969 p.V1323 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 40 0 0.00 27 7 20.59 - - - TARBP1 0 genome.wustl.edu 37 1 234566023 234566023 + Missense_Mutation SNP G G C TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 1 234566023 234566023 G C SNP TARBP1 ENST00000040877 human ensembl 69_37n -1 known missense c.2419 p.Q807E 1.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 31 0 0.00 26 16 36.36 - - - TRIP11 0 genome.wustl.edu 37 14 92470730 92470730 + Nonsense_Mutation SNP C C T TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 14 92470730 92470730 C T SNP TRIP11 ENST00000554357 human ensembl 69_37n -1 novel nonsense c.2736 p.W912* 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRIP11 HGNC ENSG00000100815 49 0 0.00 50 12 19.35 - - - ULBP2 0 genome.wustl.edu 37 6 150267715 150267715 + Nonsense_Mutation SNP C C G TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 6 150267715 150267715 C G SNP ULBP2 ENST00000367351 human ensembl 69_37n +1 known nonsense c.557 p.S186* 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP2 HGNC ENSG00000131015 241 0 0.00 243 54 18.18 - - - WDR44 0 genome.wustl.edu 37 X 117578415 117578415 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 X 117578415 117578415 G A SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.2605 p.E869K 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 130 0 0.00 100 29 22.31 - - - YY1AP1 0 genome.wustl.edu 37 1 155658085 155658085 + Silent SNP T T C TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 1 155658085 155658085 T C SNP YY1AP1 ENST00000368339 human ensembl 69_37n -1 known silent c.171 p.E57 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 8 0 0.00 4 14 77.78 - - - ZMYM2 0 genome.wustl.edu 37 13 20625607 20625608 + Frame_Shift_Del DEL CT CT - TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01d3fddf-b447-4925-a5cb-c5fd70c97278 c7f01a5c-5823-4fe9-9231-ea937c354172 13 20625607 20625608 CT - DEL ZMYM2 ENST00000382869 human ensembl 69_37n +1 known frame_shift_del c.2327_2328 p.L777fs 0.998:0.995 pfam_Znf_MYM,smart_TRASH pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 89 0 0.00 64 18 21.95 - - -