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 default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SKIV2L2 0 genome.wustl.edu 37 5 54624535 54624535 + Missense_Mutation SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 5 54624535 54624535 G A SNP SKIV2L2 ENST00000506750 human ensembl 74_37 +1 known missense c.206 p.R69H 0.902 NULL NULL - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 79 0 0.00 52 48 48.00 74 0 0.00 39 31 44.29 TMEM109 0 genome.wustl.edu 37 11 60690262 60690262 + R SNP A A C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 11 60690262 60690262 A C SNP TMEM109 ENST00000540280 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors TMEM109 HGNC ENSG00000110108 tier1 - - 33 0 0.00 28 22 44.00 48 0 0.00 14 10 41.67 ADGB 0 genome.wustl.edu 37 6 147103231 147103231 + Missense_Mutation SNP C C A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 6 147103231 147103231 C A SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.3938 p.S1313Y 1.000 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 27 0 0.00 19 17 47.22 88 0 0.00 27 37 57.81 PLEKHM1 0 genome.wustl.edu 37 17 43530773 43530773 + Silent SNP C C T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 17 43530773 43530773 C T SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known silent c.2445 p.L815 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 tier1 - - 60 0 0.00 42 42 50.00 63 0 0.00 34 29 46.03 PLX2 0 genome.wustl.edu 37 1 208390466 208390466 + Missense_Mutation SNP T T A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 208390466 208390466 T A SNP PLX2 ENST00000367033 human ensembl 74_37 -1 known missense c.802 p.I268F 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLX2 HGNC ENSG00000076356 tier1 - - 33 0 0.00 37 12 24.49 95 0 0.00 62 23 26.74 GPR133 0 genome.wustl.edu 37 12 131498757 131498757 + Missense_Mutation SNP A A G TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 12 131498757 131498757 A G SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1345 p.M449V 0.007 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 tier1 - - 41 0 0.00 44 17 27.87 43 0 0.00 18 17 48.57 REEP5 0 genome.wustl.edu 37 5 112222764 112222764 + Silent SNP G G T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 5 112222764 112222764 G T SNP REEP5 ENST00000379638 human ensembl 74_37 -1 known silent c.468 p.V156 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP5 HGNC ENSG00000129625 tier1 - - 81 0 0.00 71 65 47.79 80 0 0.00 29 33 53.23 TARBP1 0 genome.wustl.edu 37 1 234528283 234528283 + Missense_Mutation SNP G G T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 234528283 234528283 G T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.4576 p.L1526I 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 tier1 - - 43 0 0.00 38 17 30.91 87 1 1.14 57 21 26.92 PTGFRN 0 genome.wustl.edu 37 1 117509804 117509804 + Silent SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 117509804 117509804 G A SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known silent c.1911 p.E637 0.984 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 tier1 - - 13 0 0.00 6 7 53.85 99 0 0.00 39 16 29.09 SLC5A11 0 genome.wustl.edu 37 16 24918471 24918471 + Nonsense_Mutation SNP G G T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 16 24918471 24918471 G T SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known nonsense c.1240 p.E414* 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 tier1 - - 26 0 0.00 35 25 41.67 44 0 0.00 16 17 51.52 SNX25 0 genome.wustl.edu 37 4 186180114 186180114 + Silent SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 4 186180114 186180114 G A SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known silent c.135 p.Q45 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 tier1 - - 55 0 0.00 42 27 39.13 92 0 0.00 22 10 31.25 LHPP 0 genome.wustl.edu 37 10 126177109 126177109 + Missense_Mutation SNP G G C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 10 126177109 126177109 G C SNP LHPP ENST00000368842 human ensembl 74_37 +1 known missense c.432 p.E144D 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 tier1 - - 43 0 0.00 26 27 50.94 60 0 0.00 19 22 53.66 ENSG00000224505 0 genome.wustl.edu 37 17 43227864 43227864 + R SNP G G T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 17 43227864 43227864 G T SNP ENSG00000224505 ENST00000589950 human ensembl 74_37 -1 known rna NULL NULL 0.051 - - - no_errors AC002117.1 Clone_based_vega_gene ENSG00000224505 tier1 - - 39 0 0.00 34 18 34.62 89 0 0.00 49 39 44.32 GMPR2 0 genome.wustl.edu 37 14 24707611 24707611 + Missense_Mutation SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 14 24707611 24707611 G A SNP GMPR2 ENST00000348719 human ensembl 74_37 +1 known missense c.857 p.R286K 1.000 tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1 - no_errors GMPR2 HGNC ENSG00000100938 tier1 - - 20 0 0.00 11 16 59.26 86 0 0.00 18 33 64.71 TMEM255B 0 genome.wustl.edu 37 13 114502418 114502418 + R SNP T T C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 13 114502418 114502418 T C SNP TMEM255B ENST00000488362 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM255B HGNC ENSG00000184497 tier1 - - 32 0 0.00 24 18 42.86 46 0 0.00 18 11 37.93 ELAC2 0 genome.wustl.edu 37 17 12917814 12917814 + Splice_Site SNP C C G TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 17 12917814 12917814 C G SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known splice_site c.433-1 e5-1 1.000 - - - no_errors ELAC2 HGNC ENSG00000006744 tier1 - - 27 0 0.00 55 27 32.93 84 0 0.00 67 25 27.17 SOS2 0 genome.wustl.edu 37 14 50585356 50585356 + Silent SNP C C T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 14 50585356 50585356 C T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known silent c.3705 p.Q1235 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 tier1 - - 72 0 0.00 63 40 38.83 91 0 0.00 29 14 31.82 TRPC5 0 genome.wustl.edu 37 X 111078203 111078203 + Silent SNP T T G TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 X 111078203 111078203 T G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known silent c.1842 p.V614 0.997 pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 56 0 0.00 49 44 47.31 101 0 0.00 28 23 45.10 ADNP2 0 genome.wustl.edu 37 18 77895236 77895236 + Missense_Mutation SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 18 77895236 77895236 G A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.1940 p.G647D 0.121 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 31 0 0.00 19 18 48.65 7 0 0.00 10 5 33.33 ARAP2 0 genome.wustl.edu 37 4 36230792 36230792 + Missense_Mutation SNP A A T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 4 36230792 36230792 A T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.317 p.L106H 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 44 0 0.00 25 19 43.18 98 0 0.00 35 20 36.36 CCDC168 0 genome.wustl.edu 37 13 103382411 103382411 + Missense_Mutation SNP A A C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 13 103382411 103382411 A C SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known missense c.6749 p.L2250W 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 27 0 0.00 14 28 66.67 79 0 0.00 30 18 37.50 SSX7 0 genome.wustl.edu 37 X 52682511 52682511 + Silent SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 X 52682511 52682511 G A SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known silent c.12 p.D4 0.001 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 tier1 - - 261 0 0.00 328 144 30.44 35 0 0.00 16 7 30.43 ARMCX6 0 genome.wustl.edu 37 X 100871412 100871412 + Missense_Mutation SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 X 100871412 100871412 G A SNP ARMCX6 ENST00000361910 human ensembl 74_37 -1 known missense c.199 p.R67W 0.979 NULL pfam_ARM-rpt_dom - no_errors ARMCX6 HGNC ENSG00000198960 tier1 rs138992392 - 82 0 0.00 38 50 56.82 96 0 0.00 28 24 46.15 PADI1 0 genome.wustl.edu 37 1 17567209 17567209 + Missense_Mutation SNP T T A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 17567209 17567209 T A SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.1712 p.L571H 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 56 0 0.00 55 23 29.49 87 0 0.00 34 23 40.35 IFNL2 0 genome.wustl.edu 37 19 39760617 39760617 + Missense_Mutation SNP C C A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 19 39760617 39760617 C A SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known missense c.567 p.D189E 0.397 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 tier1 - - 64 0 0.00 63 32 33.68 67 0 0.00 23 27 54.00 OBSCN 0 genome.wustl.edu 37 1 228494695 228494696 + Frame_Shift_Ins INS - - GAGCGTG TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 - - - GAGCGTG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 228494695 228494696 - GAGCGTG INS OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_ins c.12020_12021 p.E4011fs 0.001:0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 20 0 0.00 12 3 20.00 20 0 0.00 12 3 20.00 SRF 0 genome.wustl.edu 37 6 43143452 43143453 + Frame_Shift_Del DEL GA GA - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 GA GA GA - GA GA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 6 43143452 43143453 GA - DEL SRF ENST00000265354 human ensembl 74_37 +1 known frame_shift_del c.789_790 p.K264fs 1.000:1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 tier1 37 0 0.00 20 17 45.95 74 0 0.00 29 6 17.14 SRF 0 genome.wustl.edu 37 6 43143443 43143450 + Frame_Shift_Del DEL GGACACAC GGACACAC - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 GGACACAC GGACACAC GGACACAC - GGACACAC GGACACAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 6 43143443 43143450 GGACACAC - DEL SRF ENST00000265354 human ensembl 74_37 +1 known frame_shift_del c.782_787 p.K261fs 1.000:1.000:1.000:0.809:0.785:0.793:0.701:0.997 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 tier1 77 0 0.00 31 6 16.22 77 0 0.00 31 6 16.22 TLN2 0 genome.wustl.edu 37 15 63029075 63029075 + Splice_Site DEL A A - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 15 63029075 63029075 A - DEL TLN2 ENST00000306829 human ensembl 74_37 +1 known splice_site_del c.3359-2 e26-2 0.998 - - - no_errors TLN2 HGNC ENSG00000171914 tier1 22 0 0.00 23 14 37.84 85 0 0.00 38 23 37.70 LOC152586 0 genome.wustl.edu 37 4 141377825 141377825 + Frame_Shift_Del DEL A A - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 4 141377825 141377825 A - DEL LOC152586 ENST00000511113 human ensembl 74_37 -1 putative frame_shift_del c.926 p.L309fs 0.985 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors RP11-542P2.1 Clone_based_vega_gene ENSG00000205301 tier1 26 0 0.00 21 16 43.24 85 0 0.00 55 27 32.93 FAXC 0 genome.wustl.edu 37 6 99728897 99728905 + R DEL TAAGGCTGC TAAGGCTGC - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 TAAGGCTGC TAAGGCTGC TAAGGCTGC - TAAGGCTGC TAAGGCTGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 6 99728897 99728905 TAAGGCTGC - DEL FAXC ENST00000461803 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.997:0.919 - - - no_errors FAXC HGNC ENSG00000146267 tier1 79 0 0.00 43 7 14.00 79 0 0.00 43 7 14.00 FZD6 0 genome.wustl.edu 37 8 104342132 104342138 + Frame_Shift_Del DEL GAGAGAG GAGAGAG - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 GAGAGAG GAGAGAG GAGAGAG - GAGAGAG GAGAGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 8 104342132 104342138 GAGAGAG - DEL FZD6 ENST00000358755 human ensembl 74_37 +1 known frame_shift_del c.1791_1797 p.R598fs 0.997:1.000:0.999:0.997:0.998:0.983:0.019 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 85 0 0.00 36 11 23.40 85 0 0.00 36 11 23.40 APOA4 0 genome.wustl.edu 37 11 116691844 116691844 + Silent SNP G G A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 11 116691844 116691844 G A SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known silent c.930 p.Y310 0.006 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 tier1 - - 28 0 0.00 22 15 40.54 58 0 0.00 9 26 74.29 DLGAP1 0 genome.wustl.edu 37 18 3879965 3879965 + Missense_Mutation SNP C C A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 18 3879965 3879965 C A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.104 p.S35I 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 141 0 0.00 126 96 43.24 22 0 0.00 9 7 43.75 GABRB1 0 genome.wustl.edu 37 4 47427786 47427786 + Silent SNP C C A TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 4 47427786 47427786 C A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known silent c.1176 p.A392 0.996 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 33 0 0.00 27 25 48.08 28 0 0.00 3 7 70.00 GLYATL1P2 0 genome.wustl.edu 37 11 58660193 58660193 + R SNP G G C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 11 58660193 58660193 G C SNP GLYATL1P2 ENST00000529451 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GLYATL1P2 HGNC ENSG00000254717 tier1 - - 31 0 0.00 21 16 43.24 40 0 0.00 5 6 54.55 GPR19 0 genome.wustl.edu 37 12 12815224 12815224 + Silent SNP T T C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 12 12815224 12815224 T C SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known silent c.159 p.Q53 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 tier1 - - 51 0 0.00 7 82 92.13 137 0 0.00 0 78 100.00 LRIG2 0 genome.wustl.edu 37 1 113616182 113616182 + Missense_Mutation SNP C C T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 113616182 113616182 C T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.154 p.P52S 0.251 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 tier1 - - 38 0 0.00 29 25 46.30 5 0 0.00 2 2 50.00 PCLO 0 genome.wustl.edu 37 7 82584755 82584755 + Silent SNP C C T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 7 82584755 82584755 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.5514 p.P1838 0.608 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 67 0 0.00 5 37 88.10 102 0 0.00 2 40 95.24 PODN 0 genome.wustl.edu 37 1 53538729 53538729 + R SNP G G C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 53538729 53538729 G C SNP PODN ENST00000471210 human ensembl 74_37 +1 known rna NULL NULL 0.240 - - - no_errors PODN HGNC ENSG00000174348 tier1 - - 15 0 0.00 3 7 70.00 18 0 0.00 4 9 69.23 VSTM2B 0 genome.wustl.edu 37 19 30019367 30019367 + Missense_Mutation SNP A A T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 19 30019367 30019367 A T SNP VSTM2B ENST00000335523 human ensembl 74_37 +1 known missense c.295 p.S99C 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2B HGNC ENSG00000187135 tier1 - - 40 0 0.00 29 25 46.30 34 0 0.00 5 15 75.00 GLIS1 0 genome.wustl.edu 37 1 53986357 53986357 + Missense_Mutation SNP G G T TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 53986357 53986357 G T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1151 p.A384D 0.019 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 45 0 0.00 44 4 8.33 3 0 0.00 5 0 0.00 HNRNPA1L2 0 genome.wustl.edu 37 13 53217551 53217553 + In_Frame_Del DEL CAG CAG - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 13 53217551 53217553 CAG - DEL HNRNPA1L2 ENST00000342657 human ensembl 74_37 +1 known in_frame_del c.924_926 p.S312in_frame_del 0.015:0.792:0.834 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 tier1 19 0 0.00 17 3 15.00 0 0 0.00 0 0 0.00 LOC644794 0 genome.wustl.edu 37 7 66369212 66369213 + R INS - - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 7 66369212 66369213 - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC INS LOC644794 ENST00000610177 human ensembl 74_37 +1 known rna NULL NULL 0.293:0.454 - - - no_errors RP11-458F8.4 Clone_based_vega_gene ENSG00000273142 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 KCNK15 0 genome.wustl.edu 37 20 43378937 43378937 + Missense_Mutation SNP T T G TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 20 43378937 43378937 T G SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known missense c.451 p.W151G 0.980 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 tier1 - - 40 0 0.00 24 15 38.46 3 0 0.00 2 2 50.00 ATRX 0 genome.wustl.edu 37 X 76875887 76875887 + Missense_Mutation SNP G G C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 X 76875887 76875887 G C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.5248 p.P1750A 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 70 0 0.00 77 18 18.95 72 0 0.00 43 2 4.44 ATRX 0 genome.wustl.edu 37 X 76875886 76875886 + Missense_Mutation SNP G G C TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 X 76875886 76875886 G C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.5249 p.P1750R 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 70 0 0.00 77 18 18.95 72 0 0.00 43 2 4.44 VPS45 0 genome.wustl.edu 37 1 150082514 150082514 + R DEL A A - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 16 0 0.00 12 3 20.00 40 0 0.00 22 2 8.33 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 13 0 0.00 18 4 18.18 23 0 0.00 35 3 7.89 ATRX 0 genome.wustl.edu 37 X 76875878 76875884 + Frame_Shift_Del DEL TTTGAAG TTTGAAG - TCGA-HB-A3L4-01A-11D-A21Q-09 TCGA-HB-A3L4-10A-01D-A21Q-09 TTTGAAG TTTGAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 23976ad7-4b4a-48ec-b407-36fd75119645 6bdcbf01-b44e-4688-8d32-1892a63a3d28 X 76875878 76875884 TTTGAAG - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.5257_5251 p.L1751fs 1.000:0.987:1.000:1.000:1.000:1.000:0.999 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 69 0 0.00 42 2 4.55 69 0 0.00 42 2 4.55