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 C1QTNF5 0 genome.wustl.edu 37 11 119210232 119210232 + Missense_Mutation SNP A A T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 11 119210232 119210232 A T SNP C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known missense c.541 p.F181I 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 tier1 - - 53 0 0.00 33 6 15.38 45 0 0.00 18 2 10.00 XIST 0 genome.wustl.edu 37 X 73071079 73071079 + R SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a X 73071079 73071079 C A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 26 0 0.00 38 9 19.15 50 0 0.00 39 15 27.78 POTEH 0 genome.wustl.edu 37 22 16287369 16287369 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 22 16287369 16287369 G A SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.517 p.R173C 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 tier1 - - 117 0 0.00 229 39 14.55 32 0 0.00 29 11 27.50 CELSR3 0 genome.wustl.edu 37 3 48687949 48687949 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 3 48687949 48687949 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.6436 p.V2146I 0.001 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 rs199670636 GMAF=0.0005 51 0 0.00 36 22 37.93 34 0 0.00 29 13 30.95 MYO18B 0 genome.wustl.edu 37 22 26164343 26164343 + Silent SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 22 26164343 26164343 T C SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known silent c.460 p.L154 0.007 superfamily_Ribosomal_zn-bd pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 52 0 0.00 70 9 11.39 86 0 0.00 70 14 16.67 DENND4B 0 genome.wustl.edu 37 1 153908534 153908534 + Splice_Site SNP A A G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 153908534 153908534 A G SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known splice_site c.2568+2 e16+2 0.998 - - - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 42 0 0.00 48 11 18.64 77 0 0.00 96 23 19.33 SLC22A1 0 genome.wustl.edu 37 6 160575836 160575836 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 6 160575836 160575836 C T SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known silent c.1392 p.L464 0.235 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 tier1 - - 53 0 0.00 52 41 44.09 122 1 0.81 62 111 63.79 FBN3 0 genome.wustl.edu 37 19 8194143 8194143 + Silent SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 8194143 8194143 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.2151 p.A717 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 50 0 0.00 50 23 31.51 19 0 0.00 20 7 25.93 ADAMTS20 0 genome.wustl.edu 37 12 43925909 43925909 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 12 43925909 43925909 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.543 p.K181 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 37 0 0.00 36 19 34.55 86 0 0.00 46 22 32.35 ZNF565 0 genome.wustl.edu 37 19 36685966 36685966 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 36685966 36685966 C T SNP ZNF565 ENST00000304116 human ensembl 74_37 -1 known silent c.102 p.V34 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 tier1 - - 40 0 0.00 133 19 12.50 102 0 0.00 193 31 13.84 ACTRT3 0 genome.wustl.edu 37 3 169485726 169485726 + Silent SNP T T G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 3 169485726 169485726 T G SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known silent c.613 p.R205 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 tier1 - - 34 0 0.00 12 15 55.56 93 0 0.00 23 17 42.50 MAG 0 genome.wustl.edu 37 19 35801001 35801001 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 35801001 35801001 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1456 p.V486I 0.999 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 rs142036180 - 20 0 0.00 66 29 30.53 7 0 0.00 14 2 12.50 KCNT1 0 genome.wustl.edu 37 9 138651572 138651572 + Missense_Mutation SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 9 138651572 138651572 T C SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.902 p.L301P 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 - - 27 0 0.00 32 6 15.79 42 0 0.00 30 7 18.92 ACO1 0 genome.wustl.edu 37 9 32407428 32407428 + Splice_Site SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 9 32407428 32407428 G A SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known splice_site c.266+1 e2+1 1.000 - - - no_errors ACO1 HGNC ENSG00000122729 tier1 - - 23 0 0.00 13 10 43.48 91 0 0.00 47 69 59.48 KLHL1 0 genome.wustl.edu 37 13 70456450 70456450 + Missense_Mutation SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 13 70456450 70456450 G C SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1192 p.L398V 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 28 0 0.00 16 14 46.67 58 0 0.00 22 22 50.00 CC1 0 genome.wustl.edu 37 13 37011865 37011865 + Missense_Mutation SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 13 37011865 37011865 C A SNP CC1 ENST00000255465 human ensembl 74_37 +1 known missense c.397 p.Q133K 0.989 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CC1 HGNC ENSG00000133101 tier1 - - 26 0 0.00 19 14 42.42 96 0 0.00 38 17 30.91 PCDHA12 0 genome.wustl.edu 37 5 140257091 140257091 + Silent SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 5 140257091 140257091 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2034 p.T678 0.000 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 55 0 0.00 33 24 42.11 11 0 0.00 15 5 25.00 MECOM 0 genome.wustl.edu 37 3 168813010 168813010 + Missense_Mutation SNP A A T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 3 168813010 168813010 A T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.2846 p.F949Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 35 0 0.00 20 10 33.33 92 0 0.00 25 19 43.18 ASH1L 0 genome.wustl.edu 37 1 155429652 155429652 + Silent SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 155429652 155429652 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.5022 p.P1674 0.596 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_D-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 19 0 0.00 49 15 23.44 101 0 0.00 86 18 17.31 LRTOMT 0 genome.wustl.edu 37 11 71817090 71817090 + Missense_Mutation SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 11 71817090 71817090 C G SNP LRTOMT ENST00000427369 human ensembl 74_37 +1 known missense c.595 p.L199V 1.000 NULL NULL - no_errors LRTOMT HGNC ENSG00000184154 tier1 - - 27 0 0.00 32 7 17.95 57 0 0.00 52 12 18.75 MAD1L1 0 genome.wustl.edu 37 7 1938010 1938010 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 1938010 1938010 C T SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known silent c.1824 p.V608 1.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 tier1 - - 16 0 0.00 6 24 80.00 74 0 0.00 16 42 72.41 OR51I2 0 genome.wustl.edu 37 11 5475397 5475397 + Missense_Mutation SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 11 5475397 5475397 G C SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.679 p.A227P 0.675 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 tier1 - - 35 0 0.00 20 13 39.39 39 0 0.00 13 7 35.00 FBXO36 0 genome.wustl.edu 37 2 230861515 230861515 + Missense_Mutation SNP A A G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 230861515 230861515 A G SNP FBXO36 ENST00000283946 human ensembl 74_37 +1 known missense c.254 p.N85S 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO36 HGNC ENSG00000153832 tier1 - - 28 0 0.00 31 16 34.04 84 0 0.00 35 19 35.19 NWD1 0 genome.wustl.edu 37 19 16918668 16918668 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 16918668 16918668 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.4008 p.I1336 0.088 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 26 0 0.00 38 14 26.92 81 0 0.00 79 37 31.90 GIMAP8 0 genome.wustl.edu 37 7 150174540 150174540 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 150174540 150174540 C T SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1670 p.T557M 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 34 0 0.00 14 19 57.58 136 0 0.00 52 97 65.10 RAP1A 0 genome.wustl.edu 37 1 112240076 112240076 + Missense_Mutation SNP A A C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 112240076 112240076 A C SNP RAP1A ENST00000356415 human ensembl 74_37 +1 known missense c.140 p.D47A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1A HGNC ENSG00000116473 tier1 - - 26 0 0.00 31 13 29.55 34 0 0.00 38 8 17.02 ITGA4 0 genome.wustl.edu 37 2 182339711 182339711 + Missense_Mutation SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 182339711 182339711 G T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.344 p.G115V 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 31 0 0.00 31 21 40.38 93 0 0.00 43 26 37.68 ENSG00000269988 0 genome.wustl.edu 37 9 130871537 130871537 + R SNP T T A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 9 130871537 130871537 T A SNP ENSG00000269988 ENST00000602939 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-395P17.11 Clone_based_vega_gene ENSG00000269988 tier1 - - 9 0 0.00 13 4 23.53 123 0 0.00 68 15 18.07 ATM 0 genome.wustl.edu 37 11 108164194 108164194 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 11 108164194 108164194 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4766 p.S1589L 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 27 0 0.00 20 76 79.17 115 0 0.00 45 170 79.07 TUBA4B 0 genome.wustl.edu 37 2 220136525 220136525 + R SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 220136525 220136525 G T SNP TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 - - 46 0 0.00 28 11 28.21 48 0 0.00 49 13 20.97 UBQLN2 0 genome.wustl.edu 37 X 56590841 56590841 + Missense_Mutation SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a X 56590841 56590841 C A SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.535 p.P179T 1.000 smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 - - 20 0 0.00 6 12 66.67 60 0 0.00 15 10 40.00 H6PD 0 genome.wustl.edu 37 1 9324533 9324533 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 9324533 9324533 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.1981 p.R661W 1.000 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_D-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 tier1 - - 29 0 0.00 23 8 25.81 16 0 0.00 17 4 19.05 RAD23A 0 genome.wustl.edu 37 19 13060159 13060159 + Missense_Mutation SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 13060159 13060159 G C SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.750 p.Q250H 1.000 pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 tier1 - - 32 0 0.00 40 8 16.67 43 0 0.00 36 13 26.53 KIF21B 0 genome.wustl.edu 37 1 200956187 200956187 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 200956187 200956187 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.3551 p.R1184Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,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 tier1 - - 32 0 0.00 5 9 64.29 52 0 0.00 17 14 45.16 PFKFB4 0 genome.wustl.edu 37 3 48563039 48563039 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 3 48563039 48563039 G A SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.1051 p.R351W 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 tier1 - - 11 0 0.00 16 8 33.33 83 0 0.00 51 28 35.44 P2RY12 0 genome.wustl.edu 37 3 151056330 151056330 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 3 151056330 151056330 C T SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known missense c.304 p.V102I 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 tier1 - - 8 0 0.00 9 14 60.87 92 0 0.00 17 19 52.78 TTC23L 0 genome.wustl.edu 37 5 34880291 34880291 + Missense_Mutation SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 5 34880291 34880291 G C SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known missense c.955 p.V319L 0.971 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 tier1 - - 19 0 0.00 22 9 29.03 72 0 0.00 58 18 23.68 FAXC 0 genome.wustl.edu 37 6 99729131 99729131 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 6 99729131 99729131 G A SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.1139 p.S380F 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 tier1 - - 30 0 0.00 57 10 14.93 123 0 0.00 84 17 16.83 SSPO 0 genome.wustl.edu 37 7 149482730 149482730 + R SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 149482730 149482730 C G SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.477 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 29 0 0.00 14 7 33.33 29 0 0.00 21 14 40.00 TCERG1L 0 genome.wustl.edu 37 10 132944799 132944799 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 10 132944799 132944799 G A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1159 p.P387S 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 tier1 - - 39 0 0.00 15 21 58.33 111 0 0.00 50 28 35.90 SUDS3 0 genome.wustl.edu 37 12 118852390 118852390 + R SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 12 118852390 118852390 C A SNP SUDS3 ENST00000541591 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors SUDS3 HGNC ENSG00000111707 tier1 - - 60 0 0.00 40 30 42.86 65 0 0.00 50 23 31.51 TOM1L1 0 genome.wustl.edu 37 17 52992048 52992048 + Missense_Mutation SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 52992048 52992048 G T SNP TOM1L1 ENST00000575882 human ensembl 74_37 +1 known missense c.547 p.A183S 0.368 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 tier1 - - 36 0 0.00 42 12 22.22 108 0 0.00 82 16 16.33 CD46 0 genome.wustl.edu 37 1 207940949 207940949 + R SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 207940949 207940949 T C SNP CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC ENSG00000117335 tier1 - - 18 0 0.00 15 11 42.31 120 0 0.00 34 23 40.35 GP6 0 genome.wustl.edu 37 19 55525954 55525954 + Silent SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 55525954 55525954 T C SNP GP6 ENST00000310373 human ensembl 74_37 -1 known silent c.1359 p.G453 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 tier1 - - 25 0 0.00 6 8 57.14 118 0 0.00 34 35 50.72 NPTXR 0 genome.wustl.edu 37 22 39222606 39222606 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 22 39222606 39222606 C T SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.997 p.G333S 0.996 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 tier1 - - 33 0 0.00 55 14 20.29 20 0 0.00 26 9 25.71 MUC16 0 genome.wustl.edu 37 19 9084743 9084743 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 9084743 9084743 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7072 p.R2358W 0.010 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 36 0 0.00 45 14 23.73 122 0 0.00 102 32 23.70 TRPC3 0 genome.wustl.edu 37 4 122853434 122853434 + Missense_Mutation SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 4 122853434 122853434 C G SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.979 p.E327Q 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 15 0 0.00 8 15 65.22 71 0 0.00 25 26 50.98 RALGPS2 0 genome.wustl.edu 37 1 178875998 178875998 + Missense_Mutation SNP A A G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 178875998 178875998 A G SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.1718 p.Q573R 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 37 0 0.00 44 10 18.52 118 0 0.00 110 24 17.91 CYBB 0 genome.wustl.edu 37 X 37663304 37663304 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a X 37663304 37663304 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.1072 p.V358I 0.997 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 tier1 - - 60 0 0.00 34 24 41.38 142 0 0.00 33 29 46.77 DH14 0 genome.wustl.edu 37 1 225328548 225328548 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 225328548 225328548 G A SNP DH14 ENST00000430092 human ensembl 74_37 +1 known missense c.4282 p.A1428T 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 - - 35 0 0.00 11 14 56.00 82 0 0.00 29 16 35.56 LINC01020 0 genome.wustl.edu 37 5 5034574 5034574 + R SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 5 5034574 5034574 G C SNP LINC01020 ENST00000508201 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC01020 HGNC ENSG00000215231 tier1 - - 26 0 0.00 45 14 23.73 71 0 0.00 76 18 19.15 MUC12 0 genome.wustl.edu 37 7 100646158 100646158 + Missense_Mutation SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 100646158 100646158 C A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.12314 p.T4105K 0.005 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 77 0 0.00 80 61 43.26 70 0 0.00 42 32 43.24 MYO15A 0 genome.wustl.edu 37 17 18025157 18025157 + Nonsense_Mutation SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 18025157 18025157 G T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known nonsense c.3043 p.E1015* 0.545 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 41 0 0.00 66 20 23.26 35 0 0.00 61 12 16.44 LRTOMT 0 genome.wustl.edu 37 11 71817014 71817014 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 11 71817014 71817014 C T SNP LRTOMT ENST00000307198 human ensembl 74_37 +1 known missense c.116 p.A39V 0.998 NULL pfam_O-MeTrfase_3 - no_errors LRTOMT HGNC ENSG00000184154 tier1 - - 43 0 0.00 45 12 21.05 76 0 0.00 68 17 20.00 RHCG 0 genome.wustl.edu 37 15 90023597 90023597 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 15 90023597 90023597 C T SNP RHCG ENST00000268122 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 tier1 - - 23 0 0.00 22 14 38.89 47 0 0.00 31 19 38.00 TMEM87A 0 genome.wustl.edu 37 15 42553434 42553434 + Missense_Mutation SNP T T A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 15 42553434 42553434 T A SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known missense c.419 p.D140V 0.934 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 tier1 - - 36 0 0.00 86 18 17.31 47 0 0.00 22 7 24.14 DOCK6 0 genome.wustl.edu 37 19 11347064 11347064 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 11347064 11347064 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.2350 p.V784M 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 39 0 0.00 40 11 21.57 22 0 0.00 15 9 37.50 KIF19 0 genome.wustl.edu 37 17 72339230 72339230 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 72339230 72339230 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.387 p.N129 0.903 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 32 0 0.00 47 19 28.79 66 0 0.00 47 13 21.67 IRS4 0 genome.wustl.edu 37 X 107977403 107977403 + Missense_Mutation SNP A A C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a X 107977403 107977403 A C SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2172 p.N724K 0.100 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 35 0 0.00 22 4 15.38 85 0 0.00 35 14 28.57 MYH11 0 genome.wustl.edu 37 16 15844065 15844065 + Missense_Mutation SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 16 15844065 15844065 T C SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.2009 p.K670R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 37 0 0.00 39 13 25.00 53 0 0.00 35 11 23.91 OR11G2 0 genome.wustl.edu 37 14 20665795 20665795 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 14 20665795 20665795 C T SNP OR11G2 ENST00000357366 human ensembl 74_37 +1 known missense c.301 p.L101F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11G2 HGNC ENSG00000196832 tier1 - - 36 0 0.00 26 22 45.83 64 0 0.00 10 16 61.54 OR2M5 0 genome.wustl.edu 37 1 248308470 248308470 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 248308470 248308470 C T SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 56 0 0.00 25 28 52.83 41 0 0.00 22 16 41.03 MAP3K7 0 genome.wustl.edu 37 6 91269900 91269900 + Missense_Mutation SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 6 91269900 91269900 G T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.377 p.T126N 1.000 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 tier1 - - 24 0 0.00 26 5 16.13 82 0 0.00 107 32 23.02 TTN 0 genome.wustl.edu 37 2 179426447 179426447 + Missense_Mutation SNP T T G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 179426447 179426447 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76708 p.S25570R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 16 0 0.00 20 5 20.00 115 0 0.00 55 24 30.38 PRLHR 0 genome.wustl.edu 37 10 120353729 120353729 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 10 120353729 120353729 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.1028 p.R343H 0.994 pfam_7TM_GPCR_olfarory/Srsx,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 27 0 0.00 8 16 66.67 34 0 0.00 14 5 26.32 ADORA2A-AS1 0 genome.wustl.edu 37 22 24827477 24827477 + R SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 22 24827477 24827477 G C SNP ADORA2A-AS1 ENST00000326341 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors ADORA2A-AS1 HGNC ENSG00000178803 tier1 - - 31 0 0.00 38 8 17.39 104 0 0.00 94 15 13.64 IL2RB 0 genome.wustl.edu 37 22 37532384 37532384 + Missense_Mutation SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 22 37532384 37532384 T C SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.587 p.E196G 0.432 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 tier1 - - 48 0 0.00 73 12 14.12 48 0 0.00 39 13 25.00 UGT1A4 0 genome.wustl.edu 37 2 234681041 234681041 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 234681041 234681041 G A SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.1441 p.D481N 0.991 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 tier1 - - 27 0 0.00 19 11 35.48 56 0 0.00 20 17 45.95 BEST4 0 genome.wustl.edu 37 1 45250616 45250616 + Silent SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 45250616 45250616 G A SNP BEST4 ENST00000372207 human ensembl 74_37 -1 known silent c.954 p.D318 0.919 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 tier1 - - 18 0 0.00 28 8 22.22 67 0 0.00 39 15 27.78 GPT2 0 genome.wustl.edu 37 16 46943701 46943701 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 16 46943701 46943701 G A SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 tier1 - - 31 0 0.00 15 10 40.00 97 0 0.00 14 20 58.82 MYOCD 0 genome.wustl.edu 37 17 12626248 12626248 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 12626248 12626248 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.338 p.A113V 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 14 0 0.00 31 45 59.21 118 0 0.00 109 118 51.98 COL4A1 0 genome.wustl.edu 37 13 110839583 110839583 + Nonsense_Mutation SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 13 110839583 110839583 C A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known nonsense c.1630 p.G544* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 23 0 0.00 38 7 15.56 139 0 0.00 129 24 15.58 AMY2B 0 genome.wustl.edu 37 1 104115688 104115688 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 104115688 104115688 C T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.319 p.R107C 0.095 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 110 0 0.00 97 37 27.61 35 0 0.00 17 7 29.17 TAAR6 0 genome.wustl.edu 37 6 132892363 132892363 + Silent SNP T T C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 6 132892363 132892363 T C SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known silent c.903 p.Y301 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 tier1 - - 37 0 0.00 37 50 57.47 100 0 0.00 53 61 53.51 MYO16 0 genome.wustl.edu 37 13 109858995 109858995 + Silent SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 13 109858995 109858995 G T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.5388 p.V1796 0.979 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 24 0 0.00 17 24 58.54 52 0 0.00 17 47 73.44 LINS 0 genome.wustl.edu 37 15 101113917 101113917 + Missense_Mutation SNP T T A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 15 101113917 101113917 T A SNP LINS ENST00000314742 human ensembl 74_37 -1 known missense c.1161 p.L387F 0.313 NULL NULL - no_errors LINS HGNC ENSG00000140471 tier1 - - 24 0 0.00 38 22 36.67 91 0 0.00 86 27 23.89 TNIK 0 genome.wustl.edu 37 3 170841407 170841407 + Missense_Mutation SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 3 170841407 170841407 C G SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.2098 p.G700R 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 tier1 - - 64 0 0.00 40 22 35.48 121 0 0.00 50 51 50.50 ENSG00000266490 0 genome.wustl.edu 37 17 29119617 29119617 + R SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 29119617 29119617 C G SNP ENSG00000266490 ENST00000580085 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-2349P21.9 Clone_based_vega_gene ENSG00000266490 tier1 - - 27 0 0.00 83 14 14.43 111 0 0.00 182 22 10.78 TXNRD1 0 genome.wustl.edu 37 12 104720164 104720164 + Missense_Mutation SNP A A T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 12 104720164 104720164 A T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1348 p.I450F 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 63 0 0.00 67 43 39.09 66 0 0.00 40 11 21.57 LRCH2 0 genome.wustl.edu 37 X 114347861 114347861 + Missense_Mutation SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a X 114347861 114347861 C G SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known missense c.2216 p.R739P 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 tier1 - - 71 0 0.00 30 36 54.55 130 0 0.00 30 26 46.43 DAOA 0 genome.wustl.edu 37 13 106119431 106119431 + Missense_Mutation SNP T T A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 13 106119431 106119431 T A SNP DAOA ENST00000375936 human ensembl 74_37 +1 known missense c.74 p.F25Y 0.007 NULL NULL - no_errors DAOA HGNC ENSG00000182346 tier1 - - 23 0 0.00 15 11 42.31 81 0 0.00 28 41 59.42 FER1L6 0 genome.wustl.edu 37 8 124987395 124987395 + Nonsense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 8 124987395 124987395 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known nonsense c.532 p.Q178* 1.000 pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 30 0 0.00 46 8 14.81 94 0 0.00 98 18 15.52 SNORA67 0 genome.wustl.edu 37 17 7482543 7482544 + R DEL AA AA - TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 7482543 7482544 AA - DEL SNORA67 ENST00000581621 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SNORA67 HGNC ENSG00000264772 tier1 8 0 0.00 7 6 46.15 93 0 0.00 61 16 20.78 PPP1R3A 0 genome.wustl.edu 37 7 113518852 113518852 + Frame_Shift_Del DEL G G - TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 113518852 113518852 G - DEL PPP1R3A ENST00000284601 human ensembl 74_37 -1 known frame_shift_del c.2295 p.I766fs 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 16 0 0.00 26 6 18.75 97 0 0.00 66 24 26.67 FAM133B 0 genome.wustl.edu 37 7 92207637 92207638 + Frame_Shift_Ins INS - - T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 92207637 92207638 - T INS FAM133B ENST00000445716 human ensembl 74_37 -1 known frame_shift_ins c.272_271 p.R91fs 1.000:1.000 NULL NULL - no_errors FAM133B HGNC ENSG00000234545 tier1 46 0 0.00 51 17 25.00 67 1 1.47 34 9 20.93 CAC1B 0 genome.wustl.edu 37 9 140941368 140941368 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 9 140941368 140941368 C T SNP CAC1B ENST00000371355 human ensembl 74_37 +1 known silent c.3429 p.F1143 0.980 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CAC1B HGNC ENSG00000148408 tier1 - - 37 0 0.00 0 46 100.00 46 0 0.00 0 19 100.00 CEP170B 0 genome.wustl.edu 37 14 105353081 105353081 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 14 105353081 105353081 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.2508 p.G836 0.007 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 52 0 0.00 0 54 100.00 54 0 0.00 2 59 96.72 DIP2A 0 genome.wustl.edu 37 21 47976337 47976337 + Missense_Mutation SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 21 47976337 47976337 C G SNP DIP2A ENST00000427143 human ensembl 74_37 +1 known missense c.3328 p.L1110V 0.004 NULL pfam_AMP-dep_Synth/Lig - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 17 0 0.00 2 7 77.78 37 0 0.00 4 10 71.43 G6PD 0 genome.wustl.edu 37 X 153763329 153763329 + R SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a X 153763329 153763329 G A SNP G6PD ENST00000497281 human ensembl 74_37 -1 known rna NULL NULL 0.039 - - - no_errors G6PD HGNC ENSG00000160211 tier1 - - 81 0 0.00 65 29 30.85 11 0 0.00 5 3 37.50 GPT 0 genome.wustl.edu 37 8 145730243 145730243 + Silent SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 8 145730243 145730243 G A SNP GPT ENST00000394955 human ensembl 74_37 +1 known silent c.342 p.A114 0.005 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 tier1 - - 117 0 0.00 37 95 71.97 52 0 0.00 9 23 71.88 KLF6 0 genome.wustl.edu 37 10 3827225 3827225 + R SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 10 3827225 3827225 G A SNP KLF6 ENST00000380946 human ensembl 74_37 -1 known rna NULL NULL 0.111 - - - no_errors KLF6 HGNC ENSG00000067082 tier1 - - 12 0 0.00 20 8 28.57 15 0 0.00 8 3 27.27 OSCAR 0 genome.wustl.edu 37 19 54598486 54598486 + Nonstop_Mutation SNP T T G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 54598486 54598486 T G SNP OSCAR ENST00000356532 human ensembl 74_37 -1 known nonstop c.804 p.*268C 0.889 NULL smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 tier1 - - 83 0 0.00 63 28 30.77 20 0 0.00 7 10 58.82 PPP1R35 0 genome.wustl.edu 37 7 100033348 100033348 + Missense_Mutation SNP A A G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 100033348 100033348 A G SNP PPP1R35 ENST00000292330 human ensembl 74_37 -1 known missense c.494 p.V165A 1.000 NULL NULL - no_errors PPP1R35 HGNC ENSG00000160813 tier1 - - 42 0 0.00 29 9 23.68 10 0 0.00 6 2 25.00 SHANK1 0 genome.wustl.edu 37 19 51165487 51165487 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 51165487 51165487 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.6245 p.R2082H 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 30 0 0.00 0 16 100.00 12 0 0.00 0 11 100.00 TIAM1 0 genome.wustl.edu 37 21 32598231 32598231 + Silent SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 21 32598231 32598231 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1620 p.T540 0.327 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 rs143707356 - 22 0 0.00 0 26 100.00 66 0 0.00 1 28 93.33 TP53 0 genome.wustl.edu 37 17 7579311 7579311 + Splice_Site SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 7579311 7579311 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.375+1 e3+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 59 0 0.00 1 99 99.00 75 0 0.00 0 95 98.96 WIPF2 0 genome.wustl.edu 37 17 38375620 38375621 + R INS - - GGCGGC TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 - - - GGCGGC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 17 38375620 38375621 - GGCGGC INS WIPF2 ENST00000494757 human ensembl 74_37 +1 known rna NULL NULL 0.994:1.000 - - - no_errors WIPF2 HGNC ENSG00000171475 tier1 8 0 0.00 9 3 25.00 8 0 0.00 9 3 25.00 ZNF274 0 genome.wustl.edu 37 19 58723009 58723009 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 58723009 58723009 C T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known silent c.933 p.Y311 0.994 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 tier1 - - 35 0 0.00 2 21 91.30 50 0 0.00 0 19 95.00 ZNF366 0 genome.wustl.edu 37 5 71756678 71756678 + Nonsense_Mutation SNP T T A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 5 71756678 71756678 T A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known nonsense c.646 p.K216* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 tier1 - - 35 0 0.00 23 9 28.12 37 0 0.00 7 4 36.36 ZDHHC11B 0 genome.wustl.edu 37 5 766963 766963 + Missense_Mutation SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 5 766963 766963 C A SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known missense c.72 p.L24F 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 80 0 0.00 120 18 13.04 72 0 0.00 75 4 5.00 ESPNP 0 genome.wustl.edu 37 1 17029215 17029215 + R SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 1 17029215 17029215 G T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.109 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 - - 81 0 0.00 111 22 16.42 94 1 1.05 121 9 6.92 CYP26A1 0 genome.wustl.edu 37 10 94833762 94833762 + Missense_Mutation SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 10 94833762 94833762 C T SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.71 p.A24V 0.993 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 tier1 - - 58 0 0.00 44 4 8.33 22 0 0.00 4 0 0.00 NLRP2 0 genome.wustl.edu 37 19 55494500 55494500 + Silent SNP C C T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 19 55494500 55494500 C T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.1434 p.S478 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 tier1 - - 20 0 0.00 2 18 90.00 10 0 0.00 0 0 0.00 TUBA3D 0 genome.wustl.edu 37 2 132240193 132240193 + Silent SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 132240193 132240193 G A SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known silent c.1125 p.V375 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 tier1 - - 43 0 0.00 43 25 36.76 10 0 0.00 4 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102299958 102299958 + R SNP C C G TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 15 102299958 102299958 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 53 0 0.00 73 7 8.75 0 0 0.00 2 0 0.00 ERVW-1 0 genome.wustl.edu 37 7 92099904 92099904 + R SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 7 92099904 92099904 G A SNP ERVW-1 ENST00000604270 human ensembl 74_37 -1 known rna NULL NULL 0.579 - - - no_errors ERVW-1 HGNC ENSG00000242950 tier1 - - 18 0 0.00 13 11 45.83 3 0 0.00 2 1 33.33 KIF26A 0 genome.wustl.edu 37 14 104640600 104640600 + Missense_Mutation SNP G G A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 14 104640600 104640600 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2146 p.V716M 0.627 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 87 0 0.00 101 34 25.19 0 0 0.00 4 0 0.00 POTEM 0 genome.wustl.edu 37 14 20012850 20012850 + Silent SNP A A T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 14 20012850 20012850 A T SNP POTEM ENST00000547722 human ensembl 74_37 -1 known silent c.906 p.P302 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 tier1 rs201036322 - 12 0 0.00 34 12 25.53 0 0 0.00 0 0 0.00 TCP11 0 genome.wustl.edu 37 6 35109033 35109040 + R DEL GCGGCCTG GCGGCCTG - TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 GCGGCCTG GCGGCCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 6 35109033 35109040 GCGGCCTG - DEL TCP11 ENST00000394696 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000:0.000:0.001:0.002:0.001:0.000:0.000 - - - no_errors TCP11 HGNC ENSG00000124678 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 WDR75 0 genome.wustl.edu 37 2 190327331 190327368 + Frame_Shift_Del DEL TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA - TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 54cb564e-9e29-443c-a113-aeba455a038d 92b531bd-cb9f-4317-b419-14a32eb8ad6a 2 190327331 190327368 TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA - DEL WDR75 ENST00000314761 human ensembl 74_37 +1 known frame_shift_del c.900_937 p.A301fs 0.884:0.984:0.969:0.111:1.000:1.000:0.782:0.909:0.963:0.966:0.972:0.999:0.998:1.000:1.000:1.000:1.000:1.000:0.984:1.000:1.000:0.889:0.994:0.998:0.932:1.000:1.000:0.933:0.928:0.924:0.507:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 tier1 54 0 0.00 20 2 9.09 54 0 0.00 20 2 9.09