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 ANK1 0 genome.wustl.edu 37 8 41554016 41554016 + Missense_Mutation SNP G G A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 8 41554016 41554016 G A SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.2825 p.T942M 0.985 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 25 0 0.00 7 5 41.67 - - - CBLB 0 genome.wustl.edu 37 3 105572448 105572448 + Missense_Mutation SNP T T C TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 3 105572448 105572448 T C SNP CBLB ENST00000264122 human ensembl 69_37n -1 known missense c.229 p.I77V 1.000 pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 225 0 0.00 96 58 37.66 - - - CGB2 0 genome.wustl.edu 37 19 49535834 49535834 + Missense_Mutation SNP G G A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 19 49535834 49535834 G A SNP CGB2 ENST00000359342 human ensembl 69_37n +1 known missense c.83 p.R28H 1.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB2 HGNC ENSG00000104818 9 0 0.00 5 4 44.44 - - - CRHR1 0 genome.wustl.edu 37 17 43893925 43893925 + Frame_Shift_Del DEL A A - TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 17 43893925 43893925 A - DEL CRHR1 ENST00000398285 human ensembl 69_37n +1 known frame_shift_del c.218 p.Y73fs 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 33 0 0.00 11 2 15.38 - - - DDX3X 0 genome.wustl.edu 37 X 41201888 41201888 + Missense_Mutation SNP C C T TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c X 41201888 41201888 C T SNP DDX3X ENST00000399959 human ensembl 69_37n +1 known missense c.425 p.P142L 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 138 0 0.00 116 24 17.14 - - - ESX1 0 genome.wustl.edu 37 X 103499462 103499462 + Silent SNP G G A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c X 103499462 103499462 G A SNP ESX1 ENST00000372588 human ensembl 69_37n -1 known silent c.69 p.I23 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain - no_errors ESX1 HGNC ENSG00000123576 188 0 0.00 59 14 19.18 - - - GOLGA6L5 0 genome.wustl.edu 37 15 85053254 85053254 + RNA SNP T T C TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 15 85053254 85053254 T C SNP GOLGA6L5 ENST00000414190 human ensembl 69_37n -1 known rna NULL NULL 0.973 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 15 0 0.00 7 3 30.00 - - - GOLGB1 0 genome.wustl.edu 37 3 121410367 121410367 + Missense_Mutation SNP G G C TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 3 121410367 121410367 G C SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.7829 p.S2610C 0.075 smart_Leu_zip_homeo superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 443 0 0.00 145 29 16.67 - - - KCNA7 0 genome.wustl.edu 37 19 49573837 49573838 + Frame_Shift_Del DEL AC AC - TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 19 49573837 49573838 AC - DEL KCNA7 ENST00000221444 human ensembl 69_37n -1 known frame_shift_del c.854_853 p.V285fs 1.000:1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 40 0 0.00 2 4 66.67 - - - KCNN2 0 genome.wustl.edu 37 5 113822457 113822458 + Frame_Shift_Ins INS - - A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 5 113822457 113822458 - A INS KCNN2 ENST00000505491 human ensembl 69_37n +1 known frame_shift_ins c.273_274 p.K95fs 0.000:0.000 NULL pfam_Ion_trans_2 - no_errors KCNN2 HGNC ENSG00000080709 13 0 0.00 11 3 21.43 - - - KLF11 0 genome.wustl.edu 37 2 10188252 10188252 + Missense_Mutation SNP A A G TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 2 10188252 10188252 A G SNP KLF11 ENST00000305883 human ensembl 69_37n +1 known missense c.788 p.N263S 0.584 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 83 0 0.00 29 4 12.12 - - - MCOLN3 0 genome.wustl.edu 37 1 85491733 85491733 + Missense_Mutation SNP T T G TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 1 85491733 85491733 T G SNP MCOLN3 ENST00000302814 human ensembl 69_37n -1 known missense c.984 p.E328D 0.671 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 147 0 0.00 97 23 19.17 - - - MECP2 0 genome.wustl.edu 37 X 153296385 153296385 + Missense_Mutation SNP C C G TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c X 153296385 153296385 C G SNP MECP2 ENST00000303391 human ensembl 69_37n -1 known missense c.894 p.E298D 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 106 0 0.00 50 27 35.06 - - - MUC6 0 genome.wustl.edu 37 11 1016078 1016079 + Frame_Shift_Ins INS - - G TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 11 1016078 1016079 - G INS MUC6 ENST00000421673 human ensembl 69_37n -1 known frame_shift_ins c.6723_6722 p.A2242fs 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 16 0 0.00 20 12 37.50 - - - PAK7 0 genome.wustl.edu 37 20 9520175 9520175 + Silent SNP T T C TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 20 9520175 9520175 T C SNP PAK7 ENST00000353224 human ensembl 69_37n -1 known silent c.2094 p.P698 0.440 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 365 0 0.00 207 91 30.33 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 119 0 0.00 86 32 27.12 - - - PRRX1 0 genome.wustl.edu 37 1 170695522 170695522 + Nonsense_Mutation SNP G G A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 1 170695522 170695522 G A SNP PRRX1 ENST00000239461 human ensembl 69_37n +1 known nonsense c.579 p.W193* 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 130 0 0.00 94 27 22.31 - - - PTPRB 0 genome.wustl.edu 37 12 71029633 71029633 + Missense_Mutation SNP G G T TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 12 71029633 71029633 G T SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known missense c.269 p.A90E 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 67 0 0.00 60 10 14.29 - - - PYHIN1 0 genome.wustl.edu 37 1 158912143 158912143 + Missense_Mutation SNP A A T TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 1 158912143 158912143 A T SNP PYHIN1 ENST00000368140 human ensembl 69_37n +1 known missense c.956 p.K319I 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 110 0 0.00 87 11 11.22 - - - SERPINB8 0 genome.wustl.edu 37 18 61654433 61654433 + Missense_Mutation SNP C C A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 18 61654433 61654433 C A SNP SERPINB8 ENST00000353706 human ensembl 69_37n +1 known missense c.1046 p.A349E 0.975 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB8 HGNC ENSG00000166401 155 1 0.64 110 19 14.73 - - - SETD7 0 genome.wustl.edu 37 4 140450374 140450374 + Missense_Mutation SNP C C T TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 4 140450374 140450374 C T SNP SETD7 ENST00000274031 human ensembl 69_37n -1 known missense c.373 p.D125N 1.000 pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom - no_errors SETD7 HGNC ENSG00000145391 183 0 0.00 120 32 21.05 - - - SLC27A4 0 genome.wustl.edu 37 9 131110900 131110901 + Frame_Shift_Ins INS - - T TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 9 131110900 131110901 - T INS SLC27A4 ENST00000300456 human ensembl 69_37n +1 known frame_shift_ins c.633_634 p.P211fs 0.996:1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 44 0 0.00 18 11 37.93 - - - TP53 0 genome.wustl.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 17 7577498 7577498 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.782+1 e6+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 37 0 0.00 14 13 48.15 - - - UBN1 0 genome.wustl.edu 37 16 4920242 4920242 + Missense_Mutation SNP G G A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 16 4920242 4920242 G A SNP UBN1 ENST00000262376 human ensembl 69_37n +1 known missense c.1211 p.S404N 0.985 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 87 0 0.00 56 13 18.84 - - - XRN2 0 genome.wustl.edu 37 20 21307234 21307234 + Missense_Mutation SNP G G A TCGA-AO-A03L-01A-41W-A071-09 TCGA-AO-A03L-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 743a29c4-e1cc-457a-8406-765f1a1bc114 678ca994-371f-4329-81c7-17b93fd4ba0c 20 21307234 21307234 G A SNP XRN2 ENST00000377191 human ensembl 69_37n +1 known missense c.310 p.G104R 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 59 0 0.00 60 33 35.48 - - -