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 MMP10 0 genome.wustl.edu 37 11 102647402 102647402 + Missense_Mutation SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 11 102647402 102647402 G C SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.728 p.T243R 0.012 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 tier1 - - 39 0 0.00 5 19 79.17 105 0 0.00 10 33 76.74 SETDB1 0 genome.wustl.edu 37 1 150917627 150917627 + Missense_Mutation SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 150917627 150917627 G C SNP SETDB1 ENST00000368962 human ensembl 74_37 +1 known missense c.1183 p.G395R 0.000 smart_Tudor smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 43 0 0.00 39 23 37.10 94 0 0.00 97 58 37.42 SLC19A2 0 genome.wustl.edu 37 1 169446394 169446394 + Missense_Mutation SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 169446394 169446394 G A SNP SLC19A2 ENST00000236137 human ensembl 74_37 -1 known missense c.806 p.P269L 0.543 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 tier1 - - 35 0 0.00 27 22 44.00 96 0 0.00 66 72 51.80 BNC1 0 genome.wustl.edu 37 15 83932303 83932303 + Missense_Mutation SNP A A T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 15 83932303 83932303 A T SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1700 p.M567K 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 46 0 0.00 25 33 56.90 67 0 0.00 54 45 45.45 ZNF574 0 genome.wustl.edu 37 19 42584298 42584298 + Missense_Mutation SNP C C G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 19 42584298 42584298 C G SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.1810 p.L604V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 tier1 - - 34 0 0.00 20 26 55.32 59 0 0.00 40 37 48.05 MUC16 0 genome.wustl.edu 37 19 9076289 9076289 + Silent SNP A A T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 19 9076289 9076289 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.11157 p.T3719 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 42 0 0.00 24 20 45.45 94 0 0.00 68 49 41.88 ADAMTS6 0 genome.wustl.edu 37 5 64748637 64748637 + Missense_Mutation SNP C C A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 5 64748637 64748637 C A SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.740 p.S247I 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 34 0 0.00 23 16 41.03 56 0 0.00 53 53 49.53 LRRC38 0 genome.wustl.edu 37 1 13839703 13839703 + Missense_Mutation SNP C C T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 13839703 13839703 C T SNP LRRC38 ENST00000376085 human ensembl 74_37 -1 known missense c.386 p.R129K 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 tier1 - - 68 0 0.00 58 37 38.95 38 0 0.00 27 26 49.06 GAK 0 genome.wustl.edu 37 4 870905 870905 + Silent SNP G G T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 4 870905 870905 G T SNP GAK ENST00000314167 human ensembl 74_37 -1 known silent c.1947 p.S649 0.997 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 tier1 - - 60 0 0.00 37 30 44.78 26 0 0.00 21 12 36.36 CBX4 0 genome.wustl.edu 37 17 77807835 77807835 + Missense_Mutation SNP A A G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 17 77807835 77807835 A G SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known missense c.1606 p.F536L 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 tier1 - - 43 0 0.00 28 31 52.54 69 0 0.00 42 20 31.75 ADCY10 0 genome.wustl.edu 37 1 167787437 167787437 + Missense_Mutation SNP C C G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 167787437 167787437 C G SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.4355 p.R1452T 0.876 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 37 0 0.00 36 26 41.94 100 0 0.00 105 74 41.11 TTC37 0 genome.wustl.edu 37 5 94877519 94877519 + Missense_Mutation SNP C C T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 5 94877519 94877519 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.326 p.S109N 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 tier1 - - 42 0 0.00 35 20 35.71 76 0 0.00 72 59 44.70 AP2A1 0 genome.wustl.edu 37 19 50303321 50303321 + Missense_Mutation SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 19 50303321 50303321 G C SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.1369 p.V457L 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 tier1 - - 27 0 0.00 23 18 43.90 140 0 0.00 115 78 40.41 BCLAF1 0 genome.wustl.edu 37 6 136596817 136596817 + Missense_Mutation SNP T T A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 6 136596817 136596817 T A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1705 p.R569W 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 36 0 0.00 27 9 25.00 136 0 0.00 76 21 21.65 GYPC 0 genome.wustl.edu 37 2 127447866 127447866 + Missense_Mutation SNP A A G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 2 127447866 127447866 A G SNP GYPC ENST00000259254 human ensembl 74_37 +1 known missense c.85 p.M29V 0.000 NULL smart_Neurexin-like - no_errors GYPC HGNC ENSG00000136732 tier1 - - 31 0 0.00 39 19 32.76 55 0 0.00 48 29 37.66 GAK 0 genome.wustl.edu 37 4 871534 871534 + Silent SNP G G T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 4 871534 871534 G T SNP GAK ENST00000314167 human ensembl 74_37 -1 known silent c.1725 p.I575 0.988 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 tier1 - - 41 0 0.00 35 25 41.67 25 0 0.00 27 7 20.59 MDP1 0 genome.wustl.edu 37 14 24683307 24683307 + Nonsense_Mutation SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 14 24683307 24683307 G A SNP MDP1 ENST00000288087 human ensembl 74_37 -1 known nonsense c.454 p.Q152* 1.000 pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC ENSG00000213920 tier1 - - 22 0 0.00 23 18 43.90 68 0 0.00 74 52 41.27 POTEC 0 genome.wustl.edu 37 18 14542640 14542640 + Missense_Mutation SNP C C A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 18 14542640 14542640 C A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.506 p.R169M 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 167 0 0.00 107 82 43.39 45 0 0.00 31 26 45.61 DOCK3 0 genome.wustl.edu 37 3 51273843 51273843 + Nonsense_Mutation SNP T T A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 3 51273843 51273843 T A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known nonsense c.1985 p.L662* 0.993 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 81 0 0.00 48 35 42.17 89 0 0.00 83 70 45.75 ENSG00000263606 0 genome.wustl.edu 37 18 2946496 2946496 + R SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 18 2946496 2946496 G C SNP ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 tier1 - - 52 0 0.00 25 28 52.83 83 0 0.00 49 40 43.96 ATP5C1 0 genome.wustl.edu 37 10 7844282 7844282 + Nonsense_Mutation SNP C C A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 10 7844282 7844282 C A SNP ATP5C1 ENST00000356708 human ensembl 74_37 +1 known nonsense c.687 p.Y229* 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 tier1 - - 18 0 0.00 10 7 41.18 31 0 0.00 42 29 40.85 RPS15A 0 genome.wustl.edu 37 16 18800247 18800247 + R SNP C C T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 16 18800247 18800247 C T SNP RPS15A ENST00000573554 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RPS15A HGNC ENSG00000134419 tier1 - - 21 0 0.00 15 12 44.44 59 0 0.00 60 42 40.78 DNM1 0 genome.wustl.edu 37 9 131001728 131001728 + Missense_Mutation SNP T T C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 9 131001728 131001728 T C SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.1427 p.M476T 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 tier1 - - 33 0 0.00 16 12 42.86 76 0 0.00 52 43 45.26 LRP2 0 genome.wustl.edu 37 2 170042037 170042037 + Missense_Mutation SNP C C T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 2 170042037 170042037 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9821 p.S3274N 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 65 0 0.00 29 30 50.85 62 0 0.00 82 39 32.23 GPR144 0 genome.wustl.edu 37 9 127220913 127220913 + Silent SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 9 127220913 127220913 G C SNP GPR144 ENST00000334810 human ensembl 74_37 +1 known silent c.1704 p.V568 1.000 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 - - 44 0 0.00 27 16 37.21 108 0 0.00 62 75 54.74 EVPL 0 genome.wustl.edu 37 17 74004699 74004699 + Silent SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 17 74004699 74004699 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.4587 p.D1529 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 33 0 0.00 31 27 46.55 54 0 0.00 44 27 38.03 F13A1 0 genome.wustl.edu 37 6 6266904 6266904 + Missense_Mutation SNP C C G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 6 6266904 6266904 C G SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.458 p.C153S 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 - - 38 0 0.00 0 18 100.00 127 0 0.00 12 61 83.56 DEPDC1B 0 genome.wustl.edu 37 5 59982797 59982797 + Missense_Mutation SNP G G T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 5 59982797 59982797 G T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.306 p.H102Q 0.188 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 tier1 - - 31 0 0.00 17 15 46.88 112 0 0.00 100 59 37.11 SMG8 0 genome.wustl.edu 37 17 57288309 57288309 + Silent SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 17 57288309 57288309 G A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.897 p.R299 0.996 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 33 0 0.00 29 20 40.82 88 0 0.00 56 63 52.94 BCKDHA 0 genome.wustl.edu 37 19 41884369 41884369 + Missense_Mutation SNP C C G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 19 41884369 41884369 C G SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known missense c.155 p.P52R 0.644 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 tier1 - - 33 0 0.00 28 23 45.10 86 0 0.00 40 52 56.52 PTCHD1 0 genome.wustl.edu 37 X 23410954 23410954 + Missense_Mutation SNP T T A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 X 23410954 23410954 T A SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.1319 p.F440Y 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 tier1 - - 21 0 0.00 16 20 55.56 76 0 0.00 78 71 47.65 PSG9 0 genome.wustl.edu 37 19 43763053 43763053 + Missense_Mutation SNP C C T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 19 43763053 43763053 C T SNP PSG9 ENST00000270077 human ensembl 74_37 -1 known missense c.944 p.R315Q 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 tier1 rs147249563 - 145 0 0.00 84 92 52.27 33 0 0.00 13 9 40.91 ENSG00000216116 0 genome.wustl.edu 37 3 79633761 79633762 + R DEL GT GT - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 GT GT GT - GT GT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 3 79633761 79633762 GT - DEL ENSG00000216116 ENST00000401297 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AC117479.1 Clone_based_ensembl_gene ENSG00000216116 tier1 18 0 0.00 17 5 22.73 26 0 0.00 56 8 12.50 TOR1AIP1 0 genome.wustl.edu 37 1 179887358 179887358 + Frame_Shift_Del DEL G G - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 179887358 179887358 G - DEL TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known frame_shift_del c.1739 p.G581fs 0.000 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 tier1 9 0 0.00 6 15 71.43 70 0 0.00 74 50 40.32 TMIE 0 genome.wustl.edu 37 3 46751074 46751076 + In_Frame_Del DEL AAG AAG - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 AAG AAG AAG - AAG AAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 3 46751074 46751076 AAG - DEL TMIE ENST00000326431 human ensembl 74_37 +1 known in_frame_del c.367_369 p.K126in_frame_del 0.074:0.151:0.294 NULL NULL - no_errors TMIE HGNC ENSG00000181585 tier1 29 0 0.00 24 4 14.29 32 0 0.00 81 9 10.00 C10orf71 0 genome.wustl.edu 37 10 50534397 50534397 + Silent SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 10 50534397 50534397 G A SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.3807 p.A1269 0.136 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 103 0 0.00 4 42 91.30 31 0 0.00 4 19 82.61 HOXC13 0 genome.wustl.edu 37 12 54333237 54333237 + Nonsense_Mutation SNP C C T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 12 54333237 54333237 C T SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known nonsense c.547 p.Q183* 1.000 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 tier1 - - 33 0 0.00 7 29 80.56 39 0 0.00 1 13 92.86 PIEZO1 0 genome.wustl.edu 37 16 88808709 88808709 + Silent SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 16 88808709 88808709 G A SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel silent c.282 p.S94 0.990 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 - - 42 0 0.00 6 21 77.78 20 0 0.00 1 12 85.71 POU3F2 0 genome.wustl.edu 37 6 99283560 99283560 + Missense_Mutation SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 6 99283560 99283560 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.811 p.E271K 1.000 pirsf_Transcription_factor_POU,pfam_POU_specific,superfamily_Lambda_D-bd_dom,smart_POU_specific,pfscan_POU_specific pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 tier1 - - 54 0 0.00 13 32 71.11 25 0 0.00 4 21 84.00 PTEN 0 genome.wustl.edu 37 10 89653790 89653790 + Frame_Shift_Del DEL C C - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 10 89653790 89653790 C - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.88 p.P30fs 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 39 0 0.00 4 19 82.61 33 0 0.00 6 33 84.62 SH3TC1 0 genome.wustl.edu 37 4 8229906 8229906 + Missense_Mutation SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 4 8229906 8229906 G C SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.2485 p.V829L 0.598 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 tier1 - - 27 0 0.00 2 18 90.00 22 0 0.00 1 10 90.91 TP53 0 genome.wustl.edu 37 17 7578176 7578176 + Splice_Site SNP C C A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 17 7578176 7578176 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.672+1 e5+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 37 0 0.00 2 35 94.59 127 0 0.00 7 54 88.52 TRPM3 0 genome.wustl.edu 37 9 73376522 73376522 + Nonsense_Mutation SNP C C A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 9 73376522 73376522 C A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known nonsense c.1348 p.E450* 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 41 0 0.00 36 4 10.00 119 0 0.00 182 15 7.58 ZZZ3 0 genome.wustl.edu 37 1 78030138 78030139 + R INS - - A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 78030138 78030139 - A INS ZZZ3 ENST00000481346 human ensembl 74_37 -1 known rna NULL NULL 0.012:0.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 15 0 0.00 24 6 20.00 50 1 1.96 103 8 7.21 F12 0 genome.wustl.edu 37 5 176830374 176830374 + Missense_Mutation SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 5 176830374 176830374 G A SNP F12 ENST00000253496 human ensembl 74_37 -1 known missense c.1412 p.A471V 0.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 tier1 - - 41 0 0.00 36 4 10.00 15 0 0.00 8 0 0.00 NEFM 0 genome.wustl.edu 37 8 24772312 24772312 + Missense_Mutation SNP G G A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 8 24772312 24772312 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.1006 p.G336S 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 tier1 rs56902012 - 18 0 0.00 11 12 52.17 6 0 0.00 3 0 0.00 GPR125 0 genome.wustl.edu 37 4 22517302 22517304 + In_Frame_Del DEL CGC CGC - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 4 22517302 22517304 CGC - DEL GPR125 ENST00000334304 human ensembl 74_37 -1 known in_frame_del c.106_104 p.G35in_frame_del 0.040:0.037:0.033 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 46 0 0.00 27 3 10.00 0 0 0.00 1 0 0.00 GRAMD1A 0 genome.wustl.edu 37 19 35491315 35491319 + R DEL CCGCG CCGCG - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 CCGCG CCGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 19 35491315 35491319 CCGCG - DEL GRAMD1A ENST00000603669 human ensembl 74_37 +1 known rna NULL NULL 0.983:0.943:0.936:0.899:0.860 - - - no_errors GRAMD1A HGNC ENSG00000089351 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LTBP3 0 genome.wustl.edu 37 11 65325325 65325326 + In_Frame_Ins INS - - CAGCAG TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 11 65325325 65325326 - CAGCAG INS LTBP3 ENST00000301873 human ensembl 74_37 -1 known in_frame_ins c.106_105 p.35in_frame_insLL 1.000:0.996 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 RN7SL417P 0 genome.wustl.edu 37 15 84949016 84949016 + R SNP G G C TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 15 84949016 84949016 G C SNP RN7SL417P ENST00000459938 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors RN7SL417P HGNC ENSG00000244056 tier1 - - 15 0 0.00 12 10 45.45 0 0 0.00 0 0 0.00 SNORD3A 0 genome.wustl.edu 37 17 19091699 19091699 + R SNP T T A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 17 19091699 19091699 T A SNP SNORD3A ENST00000584923 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD3A HGNC ENSG00000263934 tier1 rs202002668 - 13 0 0.00 27 10 27.03 2 0 0.00 7 0 0.00 SYTL1 0 genome.wustl.edu 37 1 27679961 27679961 + Missense_Mutation SNP C C A TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 27679961 27679961 C A SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known missense c.1531 p.R511S 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 tier1 - - 23 0 0.00 16 14 46.67 4 0 0.00 8 2 20.00 CENPE 0 genome.wustl.edu 37 4 104062023 104062023 + Missense_Mutation SNP A A T TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 4 104062023 104062023 A T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.5702 p.L1901H 0.606 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 36 0 0.00 41 4 8.89 81 0 0.00 122 2 1.61 ENSG00000254913 0 genome.wustl.edu 37 1 144877290 144877304 + Splice_Site DEL GGAAAGAGTAAGTAT GGAAAGAGTAAGTAT - TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 GGAAAGAGTAAGTAT GGAAAGAGTAAGTAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec1ddc84-64c1-4852-a98e-5a8406e0df9a d9bcdaa1-d682-4750-a6d0-14155e7e1ac5 1 144877290 144877304 GGAAAGAGTAAGTAT - DEL ENSG00000254913 ENST00000531288 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.003:0.000:0.000 - - - no_errors RP4-791M13.5 Clone_based_vega_gene ENSG00000254913 tier1 45 0 0.00 60 3 4.76 45 0 0.00 60 3 4.76