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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACACA 0 genome.wustl.edu 37 17 35598921 35598921 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 35598921 35598921 C G SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.2980 p.E994Q 0.996 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 38 0 0.00 37 12 23.53 ACRC 0 genome.wustl.edu 37 X 70823523 70823523 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 70823523 70823523 C T SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.396 p.N132 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 tier1 - - 137 0 0.00 60 22 26.83 ADAMTS9 0 genome.wustl.edu 37 3 64532472 64532472 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 64532472 64532472 G T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.5026 p.P1676T 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 ADAMTS9 HGNC ENSG00000163638 tier1 - - 41 0 0.00 31 4 11.43 ADCK3 0 genome.wustl.edu 37 1 227171737 227171737 + RNA SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 227171737 227171737 G T SNP ADCK3 ENST00000478406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADCK3 HGNC ENSG00000163050 tier1 rs1574184 - 34 0 0.00 27 16 37.21 ALCAM 0 genome.wustl.edu 37 3 105264106 105264106 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 105264106 105264106 G T SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.1031 p.R344I 1.000 smart_Ig_sub pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 tier1 - - 36 0 0.00 69 4 5.48 ALDH1A2 0 genome.wustl.edu 37 15 58284926 58284926 + Missense_Mutation SNP T T G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 58284926 58284926 T G SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.775 p.I259L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 tier1 - - 29 0 0.00 56 11 16.42 ALPK3 0 genome.wustl.edu 37 15 85400143 85400143 + Missense_Mutation SNP A A T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 85400143 85400143 A T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.2780 p.E927V 0.003 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 39 0 0.00 31 17 35.42 ANKMY1 0 genome.wustl.edu 37 2 241451391 241451391 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 241451391 241451391 G A SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.1906 p.L636F 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 35 0 0.00 47 15 24.19 ANKS1A 0 genome.wustl.edu 37 6 35048806 35048806 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 35048806 35048806 G T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known silent c.2580 p.L860 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 tier1 - - 45 0 0.00 43 4 8.51 AP1M1 0 genome.wustl.edu 37 19 16317176 16317176 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 16317176 16317176 C T SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.224 p.A75V 0.996 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 tier1 - - 27 0 0.00 22 13 37.14 APEX2 0 genome.wustl.edu 37 X 55033867 55033867 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 55033867 55033867 G A SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known silent c.1556 p.*519 0.301 NULL pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 tier1 - - 61 0 0.00 17 22 56.41 APOBR 0 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 28507445 28507445 G C SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1083 p.E361D 0.310 NULL NULL - no_errors APOBR HGNC ENSG00000184730 18 0 0.00 34 5 12.82 ARHGEF10 0 genome.wustl.edu 37 8 1893811 1893811 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 1893811 1893811 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.3462 p.N1154 0.984 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 23 0 0.00 12 5 29.41 ARSD-AS1 0 genome.wustl.edu 37 X 2822945 2822945 + RNA DEL T T - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 2822945 2822945 T - DEL ARSD-AS1 ENST00000414053 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors ARSD-AS1 HGNC ENSG00000229851 tier1 23 0 0.00 22 5 18.52 ASH1L 0 genome.wustl.edu 37 1 155308074 155308074 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 155308074 155308074 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.8624 p.A2875V 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-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 - - 34 0 0.00 70 4 5.41 ASL 0 genome.wustl.edu 37 7 65552723 65552723 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 65552723 65552723 C A SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.663 p.N221K 0.710 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 38 0 0.00 67 4 5.63 ATXN10 0 genome.wustl.edu 37 22 46098707 46098707 + Missense_Mutation SNP A A T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 22 46098707 46098707 A T SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known missense c.627 p.K209N 0.572 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 tier1 - - 80 0 0.00 54 22 28.95 BCAP29 0 genome.wustl.edu 37 7 107240936 107240936 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 107240936 107240936 G T SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known missense c.575 p.R192M 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 27 0 0.00 17 2 10.53 BIRC8 0 genome.wustl.edu 37 19 53793366 53793366 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 53793366 53793366 C T SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known missense c.262 p.E88K 0.531 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 tier1 - - 55 0 0.00 50 15 23.08 BLM 0 genome.wustl.edu 37 15 91341471 91341471 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 91341471 91341471 G T SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.3262 p.V1088F 1.000 pfam_RQC_domain,superfamily_P-loop_NTPase,smart_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 tier1 - - 36 0 0.00 52 14 21.21 BNIP3 0 genome.wustl.edu 37 10 133784444 133784444 + Nonsense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 133784444 133784444 C A SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known nonsense c.313 p.E105* 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 tier1 - - 45 0 0.00 59 5 7.81 BPIFB2 0 genome.wustl.edu 37 20 31600673 31600673 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 20 31600673 31600673 C T SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.268 p.R90C 0.007 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 tier1 - - 72 0 0.00 40 34 45.95 BTBD11 0 genome.wustl.edu 37 12 108011212 108011212 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 108011212 108011212 A G SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2230 p.R744G 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 38 0 0.00 34 4 10.53 C10orf99 0 genome.wustl.edu 37 10 85936240 85936240 + Missense_Mutation SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 85936240 85936240 G C SNP C10orf99 ENST00000372126 human ensembl 74_37 +1 known missense c.75 p.K25N 0.000 NULL NULL - no_errors C10orf99 HGNC ENSG00000188373 tier1 - - 39 0 0.00 19 5 20.83 C11orf80 0 genome.wustl.edu 37 11 66512287 66512287 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 66512287 66512287 A G SNP C11orf80 ENST00000360962 human ensembl 74_37 +1 known missense c.74 p.E25G 0.021 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 11 0 0.00 68 6 7.89 C16orf96 0 genome.wustl.edu 37 16 4621606 4621606 + Silent SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 4621606 4621606 C A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.465 p.L155 0.151 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 52 0 0.00 63 4 5.97 C17orf47 0 genome.wustl.edu 37 17 56620587 56620587 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 56620587 56620587 C T SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known missense c.961 p.V321M 0.000 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 tier1 - - 31 0 0.00 18 13 41.94 C19orf38 0 genome.wustl.edu 37 19 10970624 10970624 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 10970624 10970624 C A SNP C19orf38 ENST00000397820 human ensembl 74_37 +1 known missense c.495 p.F165L 0.659 NULL NULL - no_errors C19orf38 HGNC ENSG00000214212 25 0 0.00 40 3 6.98 C1RL 0 genome.wustl.edu 37 12 7254578 7254578 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 7254578 7254578 G A SNP C1RL ENST00000266542 human ensembl 74_37 -1 known missense c.406 p.R136W 0.685 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 tier1 - - 39 0 0.00 62 4 6.06 C1orf159 0 genome.wustl.edu 37 1 1018026 1018026 + RNA SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 1018026 1018026 G T SNP C1orf159 ENST00000464905 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf159 HGNC ENSG00000131591 tier1 - - 40 0 0.00 49 4 7.55 C1orf173 0 genome.wustl.edu 37 1 75065555 75065555 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 75065555 75065555 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1550 p.G517E 1.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 38 0 0.00 66 25 27.47 C21orf128 0 genome.wustl.edu 37 21 43528481 43528481 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 21 43528481 43528481 C T SNP C21orf128 ENST00000329015 human ensembl 74_37 -1 putative silent c.12 p.G4 0.000 NULL NULL - no_errors C21orf128 HGNC ENSG00000184385 tier1 - - 45 0 0.00 24 4 14.29 C5orf42 0 genome.wustl.edu 37 5 37183047 37183047 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 37183047 37183047 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.5236 p.L1746 0.654 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 46 0 0.00 17 25 59.52 CACNA1A 0 genome.wustl.edu 37 19 13616860 13616860 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 13616860 13616860 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.179 p.A60E 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 33 0 0.00 68 4 5.56 CACNA1C 0 genome.wustl.edu 37 12 2695017 2695017 + Missense_Mutation SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 2695017 2695017 T C SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2477 p.L826P 1.000 prints_VDCC_L_a1csu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 62 0 0.00 56 3 5.08 CALCRL 0 genome.wustl.edu 37 2 188245496 188245496 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 188245496 188245496 G T SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.203 p.T68N 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 28 0 0.00 33 3 8.33 CAMK2A 0 genome.wustl.edu 37 5 149618297 149618297 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 149618297 149618297 G T SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known missense c.1032 p.S344R 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2A HGNC ENSG00000070808 36 0 0.00 21 4 16.00 CATSPER2P1 0 genome.wustl.edu 37 15 44028270 44028270 + RNA SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 44028270 44028270 C G SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 38 0 0.00 40 17 29.82 CCDC135 0 genome.wustl.edu 37 16 57732912 57732912 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 57732912 57732912 C T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known silent c.354 p.H118 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 26 0 0.00 26 2 7.14 CCDC147 0 genome.wustl.edu 37 10 106160486 106160486 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 106160486 106160486 G A SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.1864 p.D622N 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 tier1 - - 42 0 0.00 28 8 22.22 CCNC 0 genome.wustl.edu 37 6 100006296 100006296 + Frame_Shift_Del DEL A A - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 100006296 100006296 A - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423 p.F141fs 0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 tier1 35 0 0.00 50 10 16.67 CD300A 0 genome.wustl.edu 37 17 72477866 72477866 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 72477866 72477866 C G SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.668 p.A223G 0.009 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 - - 60 0 0.00 49 32 39.51 CD83 0 genome.wustl.edu 37 6 14133922 14133922 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 14133922 14133922 G T SNP CD83 ENST00000379153 human ensembl 74_37 +1 known missense c.425 p.R142I 0.996 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD83 HGNC ENSG00000112149 tier1 - - 34 0 0.00 59 4 6.35 CDH10 0 genome.wustl.edu 37 5 24511486 24511486 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 24511486 24511486 C G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.952 p.D318H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 49 0 0.00 17 42 71.19 CDKN2A 0 genome.wustl.edu 37 9 21968242 21968242 + Splice_Site SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 21968242 21968242 C T SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known splice_site c.522-1 e3-1 0.091 - - - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 115 0 0.00 28 41 59.42 CHD2 0 genome.wustl.edu 37 15 93540191 93540191 + Silent SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 93540191 93540191 A G SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative silent c.3600 p.K1200 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 66 0 0.00 79 5 5.95 CKAP5 0 genome.wustl.edu 37 11 46780574 46780574 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 46780574 46780574 G T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.4588 p.H1530N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 51 0 0.00 72 4 5.26 CLK2 0 genome.wustl.edu 37 1 155238112 155238112 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 155238112 155238112 G T SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known silent c.526 p.R176 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK2 HGNC ENSG00000176444 tier1 - - 49 0 0.00 73 4 5.19 CMYA5 0 genome.wustl.edu 37 5 79029456 79029456 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 79029456 79029456 A G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.4868 p.E1623G 0.166 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 34 0 0.00 15 10 40.00 CNTN4 0 genome.wustl.edu 37 3 3085370 3085370 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 3085370 3085370 G T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.2793 p.S931 0.036 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 96 0 0.00 56 3 5.08 COG8 0 genome.wustl.edu 37 16 69366677 69366677 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 69366677 69366677 G T SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.1522 p.P508T 1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 tier1 - - 58 0 0.00 47 4 7.84 COL4A3 0 genome.wustl.edu 37 2 228169785 228169785 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 228169785 228169785 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.4238 p.S1413F 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 36 0 0.00 50 22 30.56 COL5A2 0 genome.wustl.edu 37 2 189901379 189901379 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 189901379 189901379 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.4076 p.P1359L 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 72 0 0.00 39 20 33.90 COL6A5 0 genome.wustl.edu 37 3 130107707 130107707 + Nonsense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 130107707 130107707 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known nonsense c.2146 p.Q716* 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 50 0 0.00 39 14 26.42 CRBN 0 genome.wustl.edu 37 3 3192670 3192670 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 3192670 3192670 G A SNP CRBN ENST00000231948 human ensembl 74_37 -1 known missense c.1208 p.T403M 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 39 0 0.00 30 2 6.25 CREB3 0 genome.wustl.edu 37 9 35736105 35736107 + In_Frame_Del DEL CAG CAG - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 35736105 35736107 CAG - DEL CREB3 ENST00000353704 human ensembl 74_37 +1 known in_frame_del c.672_674 p.S228in_frame_del 0.998:1.000:1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 tier1 58 0 0.00 39 4 9.30 CSPG5 0 genome.wustl.edu 37 3 47604144 47604144 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 47604144 47604144 G T SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known silent c.1647 p.G549 1.000 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 tier1 - - 38 0 0.00 35 5 12.50 CUL9 0 genome.wustl.edu 37 6 43154799 43154799 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 43154799 43154799 G T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.1353 p.V451 0.100 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 31 0 0.00 32 2 5.88 CXorf64 0 genome.wustl.edu 37 X 125954881 125954881 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 125954881 125954881 G T SNP CXorf64 ENST00000371125 human ensembl 74_37 +1 known missense c.260 p.R87I 0.001 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 42 0 0.00 32 4 11.11 CYP4X1 0 genome.wustl.edu 37 1 47501605 47501605 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 47501605 47501605 G A SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known missense c.620 p.S207N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 tier1 - - 50 0 0.00 45 15 25.00 DCAF8L2 0 genome.wustl.edu 37 X 27766027 27766027 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 27766027 27766027 G A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.1015 p.E339K 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 DCAF8L2 HGNC ENSG00000189186 tier1 - - 49 0 0.00 35 13 27.08 DCLRE1C 0 genome.wustl.edu 37 10 14961799 14961799 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 14961799 14961799 G T SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1094 p.T365K 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 60 0 0.00 66 4 5.71 DDOST 0 genome.wustl.edu 37 1 20982214 20982214 + Silent SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 20982214 20982214 C A SNP DDOST ENST00000375048 human ensembl 74_37 -1 known silent c.462 p.T154 0.131 pfam_WBP1 pfam_WBP1 - no_errors DDOST HGNC ENSG00000244038 18 0 0.00 19 2 9.52 DENND2A 0 genome.wustl.edu 37 7 140244498 140244498 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 140244498 140244498 G T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known silent c.2247 p.S749 0.437 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 66 0 0.00 73 5 6.41 DERL1 0 genome.wustl.edu 37 8 124035007 124035007 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 124035007 124035007 G T SNP DERL1 ENST00000259512 human ensembl 74_37 -1 known missense c.370 p.P124T 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 tier1 - - 58 0 0.00 41 4 8.89 DGKG 0 genome.wustl.edu 37 3 185929635 185929635 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 185929635 185929635 C T SNP DGKG ENST00000265022 human ensembl 74_37 -1 known silent c.1866 p.S622 0.008 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 tier1 - - 55 0 0.00 39 12 23.53 DNAH14 0 genome.wustl.edu 37 1 225490958 225490958 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 225490958 225490958 C T SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.8453 p.T2818M 0.988 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 42 0 0.00 36 21 36.84 DNAH14 0 genome.wustl.edu 37 1 225565127 225565127 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 225565127 225565127 C A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.12399 p.N4133K 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 40 0 0.00 40 4 9.09 DNAH3 0 genome.wustl.edu 37 16 20970694 20970694 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 20970694 20970694 C G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10633 p.G3545R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 37 0 0.00 32 19 37.25 DNM1P46 0 genome.wustl.edu 37 15 100339944 100339944 + RNA SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 100339944 100339944 A G SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 46 0 0.00 69 4 5.48 DNM1P47 0 genome.wustl.edu 37 15 102303947 102303947 + RNA SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 102303947 102303947 A G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 28 0 0.00 41 9 18.00 DOCK5 0 genome.wustl.edu 37 8 25189844 25189844 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 25189844 25189844 G T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.1981 p.D661Y 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 tier1 - - 71 0 0.00 54 4 6.90 DOPEY1 0 genome.wustl.edu 37 6 83847134 83847134 + Nonsense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 83847134 83847134 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known nonsense c.3373 p.E1125* 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 53 0 0.00 57 4 6.56 DPP3 0 genome.wustl.edu 37 11 66259001 66259001 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 66259001 66259001 G T SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known missense c.835 p.A279S 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 41 0 0.00 79 5 5.95 DSG3 0 genome.wustl.edu 37 18 29049300 29049302 + In_Frame_Del DEL CTG CTG - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 18 29049300 29049302 CTG 0 DEL DSG3 ENST00000257189 human ensembl 74_37 +1 known in_frame_del c.1885_1887 p.L632in_frame_del 0.032:0.312:0.304 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 10 0 0.00 7 2 22.22 EGLN1 0 genome.wustl.edu 37 1 231503341 231503341 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 231503341 231503341 G A SNP EGLN1 ENST00000366641 human ensembl 74_37 -1 known missense c.1190 p.A397V 1.000 NULL pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 41 0 0.00 43 4 8.51 EIF2S1 0 genome.wustl.edu 37 14 67850093 67850093 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 67850093 67850093 G T SNP EIF2S1 ENST00000256383 human ensembl 74_37 +1 known missense c.884 p.R295I 1.000 superfamily_TIF2_asu_C pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 tier1 - - 81 0 0.00 61 5 7.58 ENSG00000173213 0 genome.wustl.edu 37 18 49960 49961 + RNA INS - - T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 18 49960 49961 - T INS ENSG00000173213 ENST00000575325 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.002 - - - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 16 0 0.00 8 4 33.33 ENSG00000205830 0 genome.wustl.edu 37 4 27209535 27209535 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 27209535 27209535 G A SNP ENSG00000205830 ENST00000382007 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000205830 tier1 - - 47 0 0.00 22 54 71.05 ENSG00000215642 0 genome.wustl.edu 37 GL000192.1 197255 197255 + Missense_Mutation SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 GL000192.1 197255 197255 T C SNP ENSG00000215642 ENST00000545452 human ensembl 74_37 -1 novel missense c.1027 p.I343V NULL superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AL360154.1 Clone_based_ensembl_gene ENSG00000215642 tier1 - - 43 0 0.00 54 10 15.62 ENSG00000215922 0 genome.wustl.edu 37 3 166743252 166743252 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 166743252 166743252 C T SNP ENSG00000215922 ENST00000401103 human ensembl 74_37 +1 novel rna NULL NULL 0.022 - - - no_errors AC092965.1 Clone_based_ensembl_gene ENSG00000215922 tier1 - - 44 0 0.00 60 6 9.09 ENSG00000223579 0 genome.wustl.edu 37 22 20640667 20640687 + RNA DEL TCGTATACGGAGTCCTCATTA TCGTATACGGAGTCCTCATTA - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 TCGTATACGGAGTCCTCATTA TCGTATACGGAGTCCTCATTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 22 20640667 20640687 TCGTATACGGAGTCCTCATTA 0 DEL ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.743:0.719:0.710:0.686:0.642:0.611:0.462:0.463:0.432:0.401:0.250:0.217:0.177:0.167:0.109:0.092:0.034:0.017:0.012:0.014:0.022 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 10 0 0.00 11 2 15.38 ENSG00000223697 0 genome.wustl.edu 37 8 133854714 133854715 + RNA INS - - T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 133854714 133854715 - T INS ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.003 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 28 0 0.00 38 10 20.83 ENSG00000223730 0 genome.wustl.edu 37 22 45297633 45297633 + RNA SNP A A C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 22 45297633 45297633 A C SNP ENSG00000223730 ENST00000431036 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP1-127B20.4 Clone_based_vega_gene ENSG00000223730 tier1 - - 26 0 0.00 29 17 36.96 ENSG00000224905 0 genome.wustl.edu 37 21 15461084 15461085 + RNA DEL AG AG - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 21 15461084 15461085 AG 0 DEL ENSG00000224905 ENST00000448463 human ensembl 74_37 +1 known rna NULL NULL 0.036:0.024 - - - no_errors AP001347.6 Clone_based_vega_gene ENSG00000224905 14 0 0.00 11 5 31.25 ENSG00000232274 0 genome.wustl.edu 37 1 143189135 143189135 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 143189135 143189135 C T SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs202151544 - 23 0 0.00 6 2 25.00 ENSG00000256518 0 genome.wustl.edu 37 11 71870526 71870526 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 71870526 71870526 G A SNP ENSG00000256518 ENST00000542477 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors RP11-807H22.5 Clone_based_vega_gene ENSG00000256518 tier1 - - 37 0 0.00 20 4 16.67 ENSG00000257494 0 genome.wustl.edu 37 12 112696504 112696504 + RNA SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 112696504 112696504 C A SNP ENSG00000257494 ENST00000547401 human ensembl 74_37 +1 known rna NULL NULL 0.335 - - - no_errors RP3-521E19.2 Clone_based_vega_gene ENSG00000257494 tier1 - - 37 0 0.00 19 29 60.42 ENSG00000261238 0 genome.wustl.edu 37 16 51183171 51183171 + RNA DEL T T - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 51183171 51183171 T - DEL ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 31 0 0.00 14 4 22.22 ENSG00000272812 0 genome.wustl.edu 37 8 183124 183124 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 183124 183124 G A SNP ENSG00000272812 ENST00000609090 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-855D21.3 Clone_based_vega_gene ENSG00000272812 tier1 - - 52 0 0.00 72 9 10.98 F12 0 genome.wustl.edu 37 5 176832801 176832801 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 176832801 176832801 G T SNP F12 ENST00000253496 human ensembl 74_37 -1 known missense c.221 p.A74D 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd 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 - - 67 0 0.00 45 4 8.16 FAM135B 0 genome.wustl.edu 37 8 139380205 139380205 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 139380205 139380205 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.22 p.V8I 0.995 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 36 0 0.00 61 4 6.15 FAM98A 0 genome.wustl.edu 37 2 33817255 33817255 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 33817255 33817255 G T SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.229 p.L77I 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 tier1 - - 69 0 0.00 68 4 5.56 FBXW7 0 genome.wustl.edu 37 4 153250883 153250883 + Nonsense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 153250883 153250883 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known nonsense c.1177 p.R393* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 47 0 0.00 8 32 80.00 FCHO2 0 genome.wustl.edu 37 5 72364588 72364588 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 72364588 72364588 G T SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known missense c.1561 p.A521S 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 tier1 - - 39 0 0.00 75 4 5.06 FGD6 0 genome.wustl.edu 37 12 95603210 95603210 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 95603210 95603210 G T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1850 p.P617H 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 29 0 0.00 53 4 7.02 FLCN 0 genome.wustl.edu 37 17 17131444 17131444 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 17131444 17131444 G A SNP FLCN ENST00000285071 human ensembl 74_37 -1 known missense c.8 p.A3V 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 tier1 - - 34 0 0.00 53 4 7.02 FMN2 0 genome.wustl.edu 37 1 240255968 240255968 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 240255968 240255968 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.559 p.H187Y 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 94 0 0.00 50 22 30.56 FSIP2 0 genome.wustl.edu 37 2 186665038 186665039 + Frame_Shift_Ins INS - - A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 186665038 186665039 - A INS FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_ins c.11272_11273 p.N3760fs 0.256:0.278 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 87 0 0.00 45 19 29.69 FUCA1 0 genome.wustl.edu 37 1 24192027 24192027 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 24192027 24192027 G T SNP FUCA1 ENST00000374479 human ensembl 74_37 -1 known missense c.478 p.P160T 1.000 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA1 HGNC ENSG00000179163 31 0 0.00 37 2 5.13 G3BP2 0 genome.wustl.edu 37 4 76587143 76587143 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 76587143 76587143 G A SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known silent c.67 p.L23 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 86 0 0.00 51 4 7.27 GLG1 0 genome.wustl.edu 37 16 74496521 74496521 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 74496521 74496521 G T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known silent c.2799 p.R933 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 57 0 0.00 37 4 9.76 GLI3 0 genome.wustl.edu 37 7 42003915 42003915 + RNA SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 42003915 42003915 T C SNP GLI3 ENST00000479210 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 53 0 0.00 31 14 31.11 GLUD1 0 genome.wustl.edu 37 10 88820542 88820542 + Missense_Mutation SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 88820542 88820542 T C SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known missense c.1100 p.Y367C 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 tier1 - - 81 0 0.00 55 30 35.29 GLYCTK 0 genome.wustl.edu 37 3 52327044 52327044 + Missense_Mutation SNP T T A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 52327044 52327044 T A SNP GLYCTK ENST00000436784 human ensembl 74_37 +1 known missense c.1474 p.F492I 1.000 pfam_MOFRL pfam_MOFRL - no_errors GLYCTK HGNC ENSG00000168237 tier1 - - 19 0 0.00 10 9 47.37 GPBP1 0 genome.wustl.edu 37 5 56510008 56510008 + Silent SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 56510008 56510008 A G SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known silent c.51 p.P17 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 tier1 - - 50 0 0.00 14 43 75.44 GPR1 0 genome.wustl.edu 37 2 207041720 207041720 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 207041720 207041720 G T SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.252 p.F84L 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 32 0 0.00 37 2 5.13 GRM5 0 genome.wustl.edu 37 11 88300621 88300621 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 88300621 88300621 G T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2230 p.L744I 0.997 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 63 0 0.00 39 3 7.14 GSPT1 0 genome.wustl.edu 37 16 12009530 12009531 + In_Frame_Ins INS - - CCG TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 12009530 12009531 - CCG INS GSPT1 ENST00000434724 human ensembl 74_37 -1 known in_frame_ins c.48_47 p.17in_frame_insG 0.678:0.684 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC ENSG00000103342 tier1 8 0 0.00 7 4 36.36 HCRTR1 0 genome.wustl.edu 37 1 32084943 32084943 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 32084943 32084943 C T SNP HCRTR1 ENST00000373706 human ensembl 74_37 +1 known silent c.150 p.I50 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 tier1 rs201247112 - 41 0 0.00 26 13 33.33 HERC2 0 genome.wustl.edu 37 15 28514546 28514546 + Nonsense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 28514546 28514546 C A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known nonsense c.1294 p.G432* 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 35 0 0.00 50 4 7.41 HGFAC 0 genome.wustl.edu 37 4 3443800 3443800 + Silent SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 3443800 3443800 G C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 26 0 0.00 49 5 9.26 HIPK2 0 genome.wustl.edu 37 7 139281575 139281575 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 139281575 139281575 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.2605 p.E869K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 26 0 0.00 40 4 9.09 HMGN2 0 genome.wustl.edu 37 1 26799025 26799025 + RNA DEL C C - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 26799025 26799025 C - DEL HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 tier1 23 0 0.00 20 2 9.09 HMGXB4 0 genome.wustl.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 22 35661544 35661544 A - DEL HMGXB4 ENST00000216106 human ensembl 74_37 +1 known frame_shift_del c.1163 p.K391fs 1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 tier1 18 0 0.00 31 2 6.06 HOXA9 0 genome.wustl.edu 37 7 27203308 27203308 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 27203308 27203308 G T SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.733 p.L245I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 73 0 0.00 73 4 5.19 HRNR 0 genome.wustl.edu 37 1 152186614 152186614 + Silent SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 152186614 152186614 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.7491 p.S2497 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 19 0 0.00 11 7 38.89 HSPA6 0 genome.wustl.edu 37 1 161495361 161495361 + Missense_Mutation SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 161495361 161495361 G C SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.913 p.E305Q 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 tier1 - - 83 0 0.00 47 25 34.72 HTR1B 0 genome.wustl.edu 37 6 78172544 78172544 + Nonsense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 78172544 78172544 C A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known nonsense c.577 p.E193* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 20 0 0.00 16 2 11.11 IBSP 0 genome.wustl.edu 37 4 88732603 88732603 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 88732603 88732603 C A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.495 p.S165R 0.693 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 29 0 0.00 29 2 6.45 ICK 0 genome.wustl.edu 37 6 52876632 52876632 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 52876632 52876632 C T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.1427 p.R476Q 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ICK HGNC ENSG00000112144 tier1 rs55895113 - 30 0 0.00 19 9 32.14 IL4R 0 genome.wustl.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 27373787 27373789 GAG - DEL IL4R ENST00000170630 human ensembl 74_37 +1 known in_frame_del c.1114_1116 p.E375in_frame_del 0.644:0.873:0.910 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 tier1 34 0 0.00 38 3 7.32 INTS1 0 genome.wustl.edu 37 7 1533526 1533526 + Silent SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 1533526 1533526 G C SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2316 p.S772 0.002 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 80 0 0.00 64 25 28.09 ITGA10 0 genome.wustl.edu 37 1 145532152 145532152 + Nonsense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 145532152 145532152 G T SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known nonsense c.796 p.E266* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 23 0 0.00 28 2 6.67 ITGA11 0 genome.wustl.edu 37 15 68612554 68612554 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 68612554 68612554 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2585 p.A862V 0.167 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 tier1 - - 32 0 0.00 52 4 7.14 KCNA4 0 genome.wustl.edu 37 11 30033503 30033503 + Silent SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 30033503 30033503 C A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known silent c.723 p.L241 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 28 0 0.00 36 2 5.26 KDELR2 0 genome.wustl.edu 37 7 6523688 6523689 + In_Frame_Ins INS - - GGC TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 6523688 6523689 - GGC INS KDELR2 ENST00000258739 human ensembl 74_37 -1 known in_frame_ins c.1_2 p.0in_frame_insA 1.000:1.000 NULL pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR2 HGNC ENSG00000136240 tier1 13 0 0.00 12 6 33.33 KIAA1109 0 genome.wustl.edu 37 4 123145797 123145797 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 123145797 123145797 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.2758 p.A920S 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 47 0 0.00 12 30 71.43 KIAA1841 0 genome.wustl.edu 37 2 61345214 61345214 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 61345214 61345214 G T SNP KIAA1841 ENST00000356719 human ensembl 74_37 +1 known missense c.1991 p.G664V 1.000 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 tier1 - - 93 0 0.00 75 4 5.06 KLK14 0 genome.wustl.edu 37 19 51585853 51585853 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 51585853 51585853 C T SNP KLK14 ENST00000156499 human ensembl 74_37 -1 known missense c.67 p.A23T 0.002 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK14 HGNC ENSG00000129437 38 0 0.00 38 3 7.32 KMT2C 0 genome.wustl.edu 37 7 151878416 151878416 + Nonsense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 151878416 151878416 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.6529 p.Q2177* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 32 0 0.00 44 4 8.33 KMT2D 0 genome.wustl.edu 37 12 49432409 49432412 + Frame_Shift_Del DEL ACTT ACTT - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 ACTT ACTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 49432409 49432412 ACTT - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.8730_8727 p.S2910fs 0.984:0.964:0.993:0.989 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 35 0 0.00 17 5 22.73 KPTN 0 genome.wustl.edu 37 19 47986768 47986768 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 47986768 47986768 C T SNP KPTN ENST00000338134 human ensembl 74_37 -1 known silent c.300 p.T100 0.690 NULL NULL - no_errors KPTN HGNC ENSG00000118162 tier1 - - 64 0 0.00 38 12 24.00 LAMA1 0 genome.wustl.edu 37 18 7050775 7050775 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 18 7050775 7050775 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.506 p.R169Q 0.967 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 60 0 0.00 34 19 35.85 LAMP3 0 genome.wustl.edu 37 3 182871574 182871574 + Nonsense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 182871574 182871574 G A SNP LAMP3 ENST00000265598 human ensembl 74_37 -1 known nonsense c.655 p.Q219* 0.032 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 tier1 - - 33 0 0.00 52 22 29.73 LATS1 0 genome.wustl.edu 37 6 149997781 149997781 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 149997781 149997781 G T SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known silent c.2686 p.R896 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 tier1 - - 39 0 0.00 36 4 10.00 LFNG 0 genome.wustl.edu 37 7 2565060 2565060 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 2565060 2565060 C A SNP LFNG ENST00000222725 human ensembl 74_37 +1 known missense c.594 p.H198Q 0.775 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors LFNG HGNC ENSG00000106003 tier1 - - 89 0 0.00 46 26 36.11 LHCGR 0 genome.wustl.edu 37 2 48921377 48921377 + Silent SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 48921377 48921377 C G SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known silent c.933 p.V311 0.080 NULL pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 50 0 0.00 57 19 24.68 LHFPL3 0 genome.wustl.edu 37 7 103969248 103969249 + In_Frame_Ins INS - - GCC TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 103969248 103969249 - GCC INS LHFPL3 ENST00000535008 human ensembl 74_37 +1 known in_frame_ins c.21_22 p.11in_frame_insA 0.988:1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 tier1 23 0 0.00 21 9 30.00 LHFPL3 0 genome.wustl.edu 37 7 103969248 103969248 + Silent SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 103969248 103969248 T C SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known silent c.21 p.A7 0.988 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 23 0 0.00 25 5 16.67 LINC00094 0 genome.wustl.edu 37 9 136892007 136892007 + RNA SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 136892007 136892007 C A SNP LINC00094 ENST00000430633 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00094 HGNC ENSG00000235106 tier1 - - 48 0 0.00 49 4 7.55 LINC00937 0 genome.wustl.edu 37 12 8509659 8509659 + RNA SNP A A T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 8509659 8509659 A T SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.045 - - - no_errors LINC00937 HGNC ENSG00000226091 tier1 - - 37 0 0.00 52 28 35.00 LOC100289283 0 genome.wustl.edu 37 16 29821984 29821984 + RNA DEL T T - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 29821984 29821984 T - DEL LOC100289283 ENST00000569981 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000238045 tier1 10 0 0.00 30 3 9.09 LOC101929676 0 genome.wustl.edu 37 4 119554790 119554790 + RNA SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 119554790 119554790 T C SNP LOC101929676 ENST00000567913 human ensembl 74_37 +1 known rna NULL NULL 0.759 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 48 0 0.00 42 3 6.67 LOC730811 0 genome.wustl.edu 37 2 2328522 2328522 + RNA SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 2328522 2328522 A G SNP LOC730811 ENST00000422175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC009232.2 Clone_based_vega_gene ENSG00000225619 tier1 - - 33 0 0.00 25 12 32.43 LRFN5 0 genome.wustl.edu 37 14 42357161 42357161 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 42357161 42357161 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1333 p.R445C 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 56 0 0.00 10 25 71.43 LRRC37A11P 0 genome.wustl.edu 37 17 37186474 37186474 + RNA SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 37186474 37186474 C A SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors LRRC37A11P HGNC ENSG00000214553 tier1 - - 49 0 0.00 89 5 5.32 LRRC37A2 0 genome.wustl.edu 37 17 44626126 44626126 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 44626126 44626126 G A SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known silent c.3621 p.G1207 0.050 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 tier1 - - 127 0 0.00 148 38 20.43 LTBP1 0 genome.wustl.edu 37 2 33411983 33411983 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 33411983 33411983 G T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1262 p.C421F 1.000 smart_EG-like_dom,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,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 64 0 0.00 68 5 6.85 MAGEA6 0 genome.wustl.edu 37 X 151870172 151870172 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 151870172 151870172 C A SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known missense c.862 p.H288N 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 tier1 - - 163 0 0.00 93 33 25.98 MAGEA8 0 genome.wustl.edu 37 X 149013037 149013037 + RNA SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 149013037 149013037 C A SNP MAGEA8 ENST00000345830 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAGEA8 HGNC ENSG00000156009 tier1 - - 98 0 0.00 99 25 20.16 MAML3 0 genome.wustl.edu 37 4 140811069 140811069 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 140811069 140811069 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1521 p.Q507 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 15 0 0.00 38 4 9.52 MAP3K3 0 genome.wustl.edu 37 17 61744308 61744308 + Silent SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 61744308 61744308 C A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known silent c.483 p.S161 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 tier1 - - 67 0 0.00 54 43 44.33 MBOAT7 0 genome.wustl.edu 37 19 54678123 54678125 + In_Frame_Del DEL CTC CTC - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 54678123 54678125 CTC - DEL MBOAT7 ENST00000245615 human ensembl 74_37 -1 known in_frame_del c.1034_1032 p.S345in_frame_del 1.000:1.000:1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 tier1 51 0 0.00 56 21 27.27 MEP1A 0 genome.wustl.edu 37 6 46803219 46803219 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 46803219 46803219 C A SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.2017 p.P673T 1.000 pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 64 0 0.00 69 5 6.76 METTL17 0 genome.wustl.edu 37 14 21462709 21462709 + Silent SNP A A T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 21462709 21462709 A T SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known silent c.705 p.S235 1.000 pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 tier1 - - 35 0 0.00 21 35 62.50 MIA3 0 genome.wustl.edu 37 1 222805566 222805566 + Nonsense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 222805566 222805566 C T SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known nonsense c.3229 p.Q1077* 0.023 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 44 0 0.00 34 4 10.53 MICAL2 0 genome.wustl.edu 37 11 12278428 12278428 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 12278428 12278428 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.3052 p.E1018K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 31 0 0.00 36 6 14.29 MIR1262 0 genome.wustl.edu 37 1 68649222 68649222 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 68649222 68649222 G A SNP MIR1262 ENST00000408276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1262 HGNC ENSG00000221203 tier1 - - 40 0 0.00 49 4 7.55 MIR559 0 genome.wustl.edu 37 2 47604906 47604906 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 47604906 47604906 C T SNP MIR559 ENST00000385188 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MIR559 HGNC ENSG00000207923 tier1 - - 60 0 0.00 48 35 42.17 MKS1 0 genome.wustl.edu 37 17 56296579 56296579 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 56296579 56296579 C T SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known missense c.13 p.V5I 0.000 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 65 0 0.00 62 4 6.06 MSANTD4 0 genome.wustl.edu 37 11 105880531 105880531 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 105880531 105880531 G T SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known missense c.769 p.L257M 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 29 0 0.00 36 2 5.26 MUC17 0 genome.wustl.edu 37 7 100682876 100682876 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 100682876 100682876 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8179 p.A2727S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 98 0 0.00 82 5 5.68 MUC4 0 genome.wustl.edu 37 3 195509206 195509206 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 195509206 195509206 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.9245 p.S3082Y 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 76 0 0.00 90 7 7.22 MYCBP2 0 genome.wustl.edu 37 13 77739514 77739514 + Missense_Mutation SNP A A T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 13 77739514 77739514 A T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.6353 p.L2118H 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 45 0 0.00 41 22 34.92 MYO3B 0 genome.wustl.edu 37 2 171243657 171243660 + Frame_Shift_Del DEL CTCC CTCC - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 CTCC CTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 171243657 171243660 CTCC - DEL MYO3B ENST00000334231 human ensembl 74_37 +1 known frame_shift_del c.1443_1446 p.S482fs 1.000:1.000:1.000:0.820 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 30 0 0.00 30 12 28.57 NAPA-AS1 0 genome.wustl.edu 37 19 47998746 47998746 + RNA SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 47998746 47998746 A G SNP NAPA-AS1 ENST00000593284 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors NAPA-AS1 HGNC ENSG00000268061 tier1 - - 47 0 0.00 21 9 30.00 NAV1 0 genome.wustl.edu 37 1 201752571 201752571 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 201752571 201752571 G T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.2395 p.A799S 0.998 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 55 0 0.00 51 4 7.27 NCDN 0 genome.wustl.edu 37 1 36028834 36028834 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 36028834 36028834 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1417 p.V473I 0.927 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 - - 37 0 0.00 10 10 50.00 NEB 0 genome.wustl.edu 37 2 152548623 152548623 + Nonsense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 152548623 152548623 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known nonsense c.2056 p.E686* 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 31 0 0.00 25 2 7.41 NFASC 0 genome.wustl.edu 37 1 204953338 204953338 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 204953338 204953338 C T SNP NFASC ENST00000471392 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 36 0 0.00 36 4 10.00 NLRP14 0 genome.wustl.edu 37 11 7068053 7068053 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 7068053 7068053 C A SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.2113 p.Q705K 0.994 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 70 0 0.00 50 4 7.41 NOC4L 0 genome.wustl.edu 37 12 132635841 132635842 + Frame_Shift_Ins INS - - G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 132635841 132635842 - G INS NOC4L ENST00000330579 human ensembl 74_37 +1 known frame_shift_ins c.1001_1002 p.D335fs 0.980:0.980 pfam_CCAAT-binding_factor pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 tier1 94 0 0.00 65 17 20.73 NONO 0 genome.wustl.edu 37 X 70520815 70520815 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 70520815 70520815 C T SNP NONO ENST00000490044 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors NONO HGNC ENSG00000147140 tier1 - - 30 0 0.00 52 5 8.77 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 120612003 120612004 GG 0 DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 26 0 0.00 48 8 14.29 NOXRED1 0 genome.wustl.edu 37 14 77873059 77873059 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 77873059 77873059 G T SNP NOXRED1 ENST00000298358 human ensembl 74_37 -1 known silent c.690 p.G230 0.000 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 tier1 - - 66 0 0.00 22 40 64.52 NPAP1 0 genome.wustl.edu 37 15 24922699 24922699 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 24922699 24922699 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1685 p.S562F 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 21 0 0.00 25 7 21.88 NPAT 0 genome.wustl.edu 37 11 108058908 108058908 + Splice_Site SNP T T A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 108058908 108058908 T A SNP NPAT ENST00000278612 human ensembl 74_37 -1 known splice_site c.557-2 e7-2 1.000 - - - no_errors NPAT HGNC ENSG00000149308 tier1 - - 37 0 0.00 14 18 56.25 NPHS1 0 genome.wustl.edu 37 19 36333045 36333045 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 36333045 36333045 G A SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.2644 p.L882 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 49 0 0.00 33 13 28.26 OBSCN 0 genome.wustl.edu 37 1 228554146 228554146 + Nonsense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 228554146 228554146 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known nonsense c.19222 p.E6408* 0.046 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 15 0 0.00 26 2 7.14 OR10C1 0 genome.wustl.edu 37 6 29408609 29408609 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 29408609 29408609 G T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.817 p.V273L 0.503 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 tier1 - - 38 0 0.00 34 4 10.53 OR10J1 0 genome.wustl.edu 37 1 159409832 159409832 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 159409832 159409832 G T SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.284 p.S95I 0.033 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 45 0 0.00 57 4 6.56 OR11L1 0 genome.wustl.edu 37 1 248004653 248004653 + Silent SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 248004653 248004653 C A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known silent c.546 p.P182 0.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 51 0 0.00 26 9 25.71 OR4K15 0 genome.wustl.edu 37 14 20444596 20444596 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 20444596 20444596 A G SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.919 p.N307D 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 19 0 0.00 38 4 9.52 OR5L2 0 genome.wustl.edu 37 11 55594834 55594834 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 55594834 55594834 C A SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.140 p.A47E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 59 0 0.00 66 24 26.67 OTC 0 genome.wustl.edu 37 X 38211918 38211918 + RNA SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 38211918 38211918 C A SNP OTC ENST00000488812 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors OTC HGNC ENSG00000036473 tier1 - - 48 0 0.00 30 3 9.09 OVGP1 0 genome.wustl.edu 37 1 111957529 111957529 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 111957529 111957529 C G SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1594 p.V532L 0.061 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 47 0 0.00 48 7 12.73 OVOL2 0 genome.wustl.edu 37 20 18005451 18005451 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 20 18005451 18005451 G A SNP OVOL2 ENST00000278780 human ensembl 74_37 -1 known silent c.657 p.C219 0.351 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC ENSG00000125850 33 0 0.00 33 2 5.71 PCDHAC2 0 genome.wustl.edu 37 5 140347416 140347416 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 140347416 140347416 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.1065 p.I355 0.024 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 42 0 0.00 49 3 5.77 PCDHB2 0 genome.wustl.edu 37 5 140476081 140476081 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 140476081 140476081 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1707 p.N569 0.994 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 rs200168689 - 82 0 0.00 69 55 43.31 PCGF2 0 genome.wustl.edu 37 17 36892358 36892358 + Frame_Shift_Del DEL G G - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 36892358 36892358 G - DEL PCGF2 ENST00000360797 human ensembl 74_37 -1 known frame_shift_del c.642 p.Y215fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 tier1 14 0 0.00 22 13 37.14 PCSK5 0 genome.wustl.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 78790192 78790192 C G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.2047 p.R683G 0.006 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 8 0 0.00 4 2 33.33 PDE6B 0 genome.wustl.edu 37 4 652796 652796 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 4 652796 652796 G T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.1457 p.G486V 0.001 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 28 0 0.00 46 4 8.00 PDIA4 0 genome.wustl.edu 37 7 148701272 148701272 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 148701272 148701272 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.1552 p.P518S 1.000 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 tier1 - - 46 0 0.00 70 5 6.67 PIK3CA 0 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 86 0 0.00 105 37 26.06 PIK3CA 0 genome.wustl.edu 37 3 178928045 178928045 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 178928045 178928045 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1323 p.M441I 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 40 0 0.00 62 4 6.06 PKD1L1 0 genome.wustl.edu 37 7 47872850 47872850 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 47872850 47872850 G T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.6175 p.Q2059K 0.003 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 28 0 0.00 50 5 9.09 PLCB4 0 genome.wustl.edu 37 20 9352984 9352984 + Frame_Shift_Del DEL A A - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 20 9352984 9352984 A - DEL PLCB4 ENST00000334005 human ensembl 74_37 +1 known frame_shift_del c.620 p.K208fs 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 43 0 0.00 24 2 7.69 PLCE1 0 genome.wustl.edu 37 10 95993928 95993928 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 95993928 95993928 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.2073 p.V691 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 58 0 0.00 42 31 42.47 PLEKHG5 0 genome.wustl.edu 37 1 6533205 6533205 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 6533205 6533205 G T SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known silent c.1062 p.G354 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 21 0 0.00 22 4 15.38 PPP2R1A 0 genome.wustl.edu 37 19 52714685 52714685 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 52714685 52714685 G A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.443 p.C148Y 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 tier1 - - 69 0 0.00 63 31 32.98 PPP3CB 0 genome.wustl.edu 37 10 75239222 75239222 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 75239222 75239222 C T SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known missense c.139 p.D47N 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 23 0 0.00 36 4 10.00 PRB1 0 genome.wustl.edu 37 12 11506233 11506233 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 11506233 11506233 G T SNP PRB1 ENST00000500254 human ensembl 74_37 -1 known silent c.405 p.G135 0.000 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 57 0 0.00 58 4 6.45 PRUNE 0 genome.wustl.edu 37 1 150980967 150980967 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 150980967 150980967 C T SNP PRUNE ENST00000462440 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRUNE HGNC ENSG00000143363 tier1 - - 32 0 0.00 21 12 35.29 PSIP1 0 genome.wustl.edu 37 9 15472611 15472612 + RNA INS - - AA TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 15472611 15472612 - AA INS PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 12 0 0.00 34 4 10.53 PTPN3 0 genome.wustl.edu 37 9 112207526 112207526 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 112207526 112207526 C T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.460 p.V154I 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 rs138810032 - 63 0 0.00 81 5 5.81 PTPRH 0 genome.wustl.edu 37 19 55708723 55708723 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 55708723 55708723 C A SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.1752 p.W584C 0.032 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 tier1 - - 65 0 0.00 59 4 6.35 RABGAP1 0 genome.wustl.edu 37 9 125827752 125827753 + Frame_Shift_Ins INS - - A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 125827752 125827753 - A INS RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_ins c.1716_1717 p.K576fs 0.000:0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 39 0 0.00 40 4 9.09 RAPGEF4 0 genome.wustl.edu 37 2 173883429 173883429 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 173883429 173883429 G A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2054 p.R685Q 1.000 pfam_Ras-assoc,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 28 0 0.00 18 10 35.71 RASGEF1A 0 genome.wustl.edu 37 10 43701554 43701554 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 43701554 43701554 G A SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.11 p.T4M 0.999 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 tier1 - - 36 0 0.00 22 15 38.46 RAVER1 0 genome.wustl.edu 37 19 10439552 10439552 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 10439552 10439552 G T SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known silent c.573 p.G191 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 65 0 0.00 71 4 5.33 RBMXL2 0 genome.wustl.edu 37 11 7111345 7111345 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 7111345 7111345 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.994 p.R332W 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 38 0 0.00 17 4 19.05 REG1P 0 genome.wustl.edu 37 2 79364421 79364421 + RNA SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 79364421 79364421 C G SNP REG1P ENST00000377435 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors REG1P HGNC ENSG00000204787 tier1 - - 52 0 0.00 70 24 25.53 RLF 0 genome.wustl.edu 37 1 40705442 40705442 + Nonsense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 40705442 40705442 C T SNP RLF ENST00000372771 human ensembl 74_37 +1 known nonsense c.5068 p.Q1690* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 56 0 0.00 31 8 20.51 RNF180 0 genome.wustl.edu 37 5 63509747 63509747 + Silent SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 63509747 63509747 G T SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known silent c.594 p.L198 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 51 0 0.00 29 2 6.45 RPL31P11 0 genome.wustl.edu 37 1 161654571 161654572 + RNA INS - - T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 161654571 161654572 - T INS RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 0.140:0.150 - - - no_errors RPL31P11 HGNC ENSG00000213075 tier1 8 0 0.00 9 4 30.77 RPL31P11 0 genome.wustl.edu 37 1 161654572 161654572 + RNA DEL T T - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 161654572 161654572 T - DEL RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 0.150 - - - no_errors RPL31P11 HGNC ENSG00000213075 tier1 8 0 0.00 10 3 23.08 RXRA 0 genome.wustl.edu 37 9 137331938 137331938 + RNA DEL A A - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 137331938 137331938 A - DEL RXRA ENST00000356384 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RXRA HGNC ENSG00000186350 tier1 30 0 0.00 24 6 20.00 SCAF11 0 genome.wustl.edu 37 12 46321902 46321902 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 46321902 46321902 G T SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.1582 p.Q528K 0.370 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 - - 59 0 0.00 64 4 5.88 SCNN1B 0 genome.wustl.edu 37 16 23360218 23360218 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 23360218 23360218 G T SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.433 p.A145S 0.748 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 tier1 - - 18 0 0.00 20 11 35.48 SDCBP 0 genome.wustl.edu 37 8 59493135 59493135 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 59493135 59493135 G T SNP SDCBP ENST00000260130 human ensembl 74_37 +1 known missense c.810 p.M270I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 41 0 0.00 68 4 5.56 SEC16A 0 genome.wustl.edu 37 9 139341801 139341801 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 139341801 139341801 C G SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.6575 p.R2192P 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 27 0 0.00 35 8 18.18 SEC63 0 genome.wustl.edu 37 6 108214708 108214708 + Missense_Mutation SNP T T A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 108214708 108214708 T A SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1652 p.Q551L 1.000 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 40 0 0.00 91 6 6.19 SECISBP2 0 genome.wustl.edu 37 9 91965627 91965627 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 91965627 91965627 G A SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.1973 p.R658H 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 tier1 - - 77 0 0.00 69 4 5.48 SEZ6L 0 genome.wustl.edu 37 22 26706706 26706706 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 22 26706706 26706706 C A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1585 p.P529T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 33 0 0.00 28 5 15.15 SHMT2 0 genome.wustl.edu 37 12 57627083 57627083 + Frame_Shift_Del DEL C C - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 57627083 57627083 C - DEL SHMT2 ENST00000328923 human ensembl 74_37 +1 known frame_shift_del c.978 p.H328fs 0.249 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 tier1 45 0 0.00 18 2 10.00 SLC13A2 0 genome.wustl.edu 37 17 26822705 26822705 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 26822705 26822705 G A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known silent c.1488 p.K496 0.903 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 100 0 0.00 112 9 7.44 SLC17A4 0 genome.wustl.edu 37 6 25769299 25769299 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 6 25769299 25769299 G A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.178 p.A60T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 52 0 0.00 65 4 5.80 SLC19A1 0 genome.wustl.edu 37 21 46957744 46957744 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 21 46957744 46957744 C A SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.130 p.G44W 0.973 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 84 0 0.00 46 4 8.00 SLC22A6 0 genome.wustl.edu 37 11 62747271 62747271 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 62747271 62747271 G T SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known missense c.1187 p.P396H 0.984 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 SLC22A6 HGNC ENSG00000197901 tier1 - - 23 0 0.00 21 4 16.00 SLC9A6 0 genome.wustl.edu 37 X 135106542 135106542 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 135106542 135106542 G T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known missense c.1516 p.A506S 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 tier1 - - 52 0 0.00 46 4 8.00 SLIT3 0 genome.wustl.edu 37 5 168201256 168201256 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 5 168201256 168201256 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.1279 p.Q427K 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 54 0 0.00 45 3 6.25 SNHG14 0 genome.wustl.edu 37 15 25436407 25436407 + RNA SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 25436407 25436407 C T SNP SNHG14 ENST00000414175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 17 0 0.00 26 8 23.53 SORCS3 0 genome.wustl.edu 37 10 106849543 106849543 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 106849543 106849543 G A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1039 p.G347R 0.631 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 24 0 0.00 24 9 27.27 SPATA31E1 0 genome.wustl.edu 37 9 90502226 90502226 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 90502226 90502226 A G SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.2824 p.T942A 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 34 0 0.00 14 9 39.13 SPEG 0 genome.wustl.edu 37 2 220330668 220330669 + RNA INS - - GT TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 220330668 220330669 - GT INS SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors SPEG HGNC ENSG00000072195 tier1 22 0 0.00 29 6 17.14 SPTB 0 genome.wustl.edu 37 14 65233375 65233375 + Nonstop_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 65233375 65233375 C A SNP SPTB ENST00000389721 human ensembl 74_37 -1 known nonstop c.6414 p.*2138Y 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pirsf_Spectrin_bsu,pfscan_CH-domain - no_errors SPTB HGNC ENSG00000070182 24 0 0.00 34 4 10.53 SRRM3 0 genome.wustl.edu 37 7 75889238 75889238 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 75889238 75889238 C A SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known missense c.350 p.P117Q 0.837 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 tier1 - - 101 0 0.00 69 4 5.48 STX16-NPEPL1 0 genome.wustl.edu 37 20 57227095 57227095 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 20 57227095 57227095 G T SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.33 p.L11F 1.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 tier1 - - 47 0 0.00 45 4 8.16 SYNE3 0 genome.wustl.edu 37 14 95905383 95905383 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 95905383 95905383 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2363 p.R788K 0.068 superfamily_Retrov_capsid_C pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 60 0 0.00 47 18 27.69 SZRD1 0 genome.wustl.edu 37 1 16719936 16719936 + Silent SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 16719936 16719936 C T SNP SZRD1 ENST00000375590 human ensembl 74_37 +1 known silent c.255 p.S85 0.257 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 tier1 - - 36 0 0.00 64 4 5.88 TACC2 0 genome.wustl.edu 37 10 123842775 123842775 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 123842775 123842775 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.760 p.A254T 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 72 0 0.00 63 4 5.97 TAF6L 0 genome.wustl.edu 37 11 62549432 62549432 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 62549432 62549432 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.598 p.V200I 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 - - 49 0 0.00 53 17 24.29 TBX5 0 genome.wustl.edu 37 12 114841727 114841727 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 114841727 114841727 G A SNP TBX5 ENST00000552726 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 86 0 0.00 80 41 33.88 TCEAL4 0 genome.wustl.edu 37 X 102841918 102841918 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 102841918 102841918 G T SNP TCEAL4 ENST00000372629 human ensembl 74_37 +1 known missense c.744 p.E248D 0.174 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL4 HGNC ENSG00000133142 45 0 0.00 59 4 6.35 TECTA 0 genome.wustl.edu 37 11 120989026 120989026 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 120989026 120989026 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.802 p.R268W 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 50 0 0.00 24 4 14.29 TEX15 0 genome.wustl.edu 37 8 30704417 30704417 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 30704417 30704417 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.2117 p.F706S 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 26 0 0.00 38 2 5.00 TGDS 0 genome.wustl.edu 37 13 95229646 95229647 + Frame_Shift_Ins INS - - A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 13 95229646 95229647 - A INS TGDS ENST00000261296 human ensembl 74_37 -1 known frame_shift_ins c.863_862 p.W288fs 1.000:1.000 pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 tier1 81 0 0.00 66 29 30.53 TGM5 0 genome.wustl.edu 37 15 43525493 43525493 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 15 43525493 43525493 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.2059 p.V687I 0.986 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 tier1 - - 44 0 0.00 58 4 6.45 TMEM40 0 genome.wustl.edu 37 3 12778296 12778296 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 12778296 12778296 C T SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known missense c.559 p.G187R 0.977 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 tier1 - - 69 0 0.00 55 4 6.78 TMEM55A 0 genome.wustl.edu 37 8 92032388 92032388 + Missense_Mutation SNP T T A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 92032388 92032388 T A SNP TMEM55A ENST00000285419 human ensembl 74_37 -1 known missense c.359 p.N120I 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 tier1 - - 61 0 0.00 45 22 32.84 TNFRSF19 0 genome.wustl.edu 37 13 24242195 24242195 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 13 24242195 24242195 G A SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known silent c.813 p.V271 0.882 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 tier1 - - 31 0 0.00 14 4 22.22 TNFSF11 0 genome.wustl.edu 37 13 43148538 43148538 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 13 43148538 43148538 G A SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known silent c.99 p.P33 0.887 pirsf_TNF_ligand_10/11 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 tier1 - - 12 0 0.00 19 10 34.48 TONSL 0 genome.wustl.edu 37 8 145661587 145661589 + In_Frame_Del DEL GCT GCT - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 145661587 145661589 GCT - DEL TONSL ENST00000409379 human ensembl 74_37 -1 known in_frame_del c.2229_2227 p.S744in_frame_del 0.999:0.998:0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 19 0 0.00 17 3 15.00 TP53 0 genome.wustl.edu 37 17 7577062 7577062 + Frame_Shift_Del DEL T T - TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 7577062 7577062 T - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.876 p.E294fs 0.411 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 36 0 0.00 15 38 71.70 TRA2B 0 genome.wustl.edu 37 3 185639850 185639850 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 185639850 185639850 G T SNP TRA2B ENST00000453386 human ensembl 74_37 -1 known missense c.587 p.T196K 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 tier1 - - 60 0 0.00 74 4 5.13 TRIM63 0 genome.wustl.edu 37 1 26392821 26392821 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 26392821 26392821 G A SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known silent c.270 p.Y90 0.845 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 tier1 - - 52 0 0.00 51 4 7.27 TRIT1 0 genome.wustl.edu 37 1 40312896 40312896 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 40312896 40312896 C A SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known missense c.1002 p.L334F 0.953 NULL pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 57 0 0.00 66 4 5.71 TRMT1 0 genome.wustl.edu 37 19 13226539 13226539 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 13226539 13226539 G T SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.354 p.D118E 0.998 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 tier1 - - 26 0 0.00 30 4 11.76 TRO 0 genome.wustl.edu 37 X 54953052 54953052 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 54953052 54953052 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.1694 p.R565H 0.069 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 rs201094980 - 80 0 0.00 47 45 48.39 TSG101 0 genome.wustl.edu 37 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 18505466 18505466 T C SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known missense c.794 p.K265R 1.000 NULL pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 43 0 0.00 66 4 5.71 TSHR 0 genome.wustl.edu 37 14 81610253 81610253 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 14 81610253 81610253 C A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.1851 p.D617E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 27 0 0.00 37 2 5.13 TSPAN11 0 genome.wustl.edu 37 12 31106947 31106947 + Nonsense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 12 31106947 31106947 C T SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known nonsense c.22 p.Q8* 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 tier1 - - 39 0 0.00 50 4 7.41 TTC3 0 genome.wustl.edu 37 21 38467744 38467744 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 21 38467744 38467744 G T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.782 p.R261I 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 52 0 0.00 26 2 7.14 TTN 0 genome.wustl.edu 37 2 179597268 179597268 + Missense_Mutation SNP A A G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 179597268 179597268 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.12788 p.L4263P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 29 0 0.00 50 4 7.41 TTN 0 genome.wustl.edu 37 2 179579781 179579781 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 179579781 179579781 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22400 p.G7467E 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom 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 27 0 0.00 36 2 5.26 TUBB8P7 0 genome.wustl.edu 37 16 90160255 90160255 + RNA SNP T T G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 16 90160255 90160255 T G SNP TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors TUBB8P7 HGNC ENSG00000261812 92 0 0.00 113 7 5.83 TUBBP5 0 genome.wustl.edu 37 9 141069114 141069114 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 9 141069114 141069114 G A SNP TUBBP5 ENST00000503395 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors TUBBP5 HGNC ENSG00000159247 34 0 0.00 27 3 10.00 UBA1 0 genome.wustl.edu 37 X 47072572 47072572 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 47072572 47072572 C T SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known missense c.2830 p.R944C 0.999 pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 15 0 0.00 17 4 19.05 UBAP2L 0 genome.wustl.edu 37 1 154232491 154232491 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 1 154232491 154232491 G T SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.2564 p.S855I 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 tier1 - - 80 0 0.00 72 4 5.26 UGT1A7 0 genome.wustl.edu 37 2 234591302 234591302 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 234591302 234591302 C T SNP UGT1A7 ENST00000373426 human ensembl 74_37 +1 known missense c.719 p.T240M 0.193 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 tier1 - - 55 0 0.00 64 27 29.67 UNC5B 0 genome.wustl.edu 37 10 73039676 73039676 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 73039676 73039676 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.178 p.V60M 1.000 smart_Ig_sub pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 tier1 - - 33 0 0.00 36 25 40.32 UPK3A 0 genome.wustl.edu 37 22 45684984 45684984 + Missense_Mutation SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 22 45684984 45684984 G C SNP UPK3A ENST00000216211 human ensembl 74_37 +1 known missense c.531 p.E177D 0.943 NULL NULL - no_errors UPK3A HGNC ENSG00000100373 tier1 - - 30 0 0.00 14 10 41.67 UROS 0 genome.wustl.edu 37 10 127486714 127486714 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 127486714 127486714 C A SNP UROS ENST00000368786 human ensembl 74_37 -1 known missense c.395 p.R132M 1.000 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 48 0 0.00 48 4 7.69 UTP18 0 genome.wustl.edu 37 17 49354628 49354628 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 49354628 49354628 G A SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known missense c.975 p.M325I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 tier1 - - 66 0 0.00 63 4 5.97 XIRP2 0 genome.wustl.edu 37 2 168099862 168099862 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 2 168099862 168099862 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1960 p.A654T 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 54 0 0.00 32 2 5.88 XIST 0 genome.wustl.edu 37 X 73068515 73068515 + RNA SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 X 73068515 73068515 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 21 0 0.00 13 5 27.78 YAP1 0 genome.wustl.edu 37 11 102100570 102100570 + Missense_Mutation SNP C C G TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 11 102100570 102100570 C G SNP YAP1 ENST00000282441 human ensembl 74_37 +1 known missense c.1414 p.P472A 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors YAP1 HGNC ENSG00000137693 tier1 - - 62 0 0.00 16 27 62.79 YTHDF3 0 genome.wustl.edu 37 8 64124994 64124995 + RNA INS - - A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 8 64124994 64124995 - A INS YTHDF3 ENST00000521674 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors YTHDF3 HGNC ENSG00000185728 tier1 53 0 0.00 42 3 6.67 ZNF112 0 genome.wustl.edu 37 19 44833574 44833574 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 44833574 44833574 G T SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.805 p.Q269K 0.060 NULL 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 ZNF112 HGNC ENSG00000062370 10 0 0.00 22 2 8.33 ZNF256 0 genome.wustl.edu 37 19 58453931 58453931 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 58453931 58453931 G T SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known missense c.245 p.A82D 0.000 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 ZNF256 HGNC ENSG00000152454 63 0 0.00 64 4 5.88 ZNF287 0 genome.wustl.edu 37 17 16456146 16456146 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 17 16456146 16456146 G T SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.1310 p.A437E 0.829 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 tier1 - - 55 0 0.00 57 4 6.45 ZNF438 0 genome.wustl.edu 37 10 31139162 31139162 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 10 31139162 31139162 G T SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.172 p.R58S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 63 0 0.00 51 3 5.56 ZNF445 0 genome.wustl.edu 37 3 44489726 44489726 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 3 44489726 44489726 G T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.1437 p.H479Q 0.931 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 21 0 0.00 22 3 12.00 ZNF566 0 genome.wustl.edu 37 19 36963867 36963867 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 36963867 36963867 G T SNP ZNF566 ENST00000392170 human ensembl 74_37 -1 known missense c.181 p.Q61K 1.000 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 ZNF566 HGNC ENSG00000186017 31 0 0.00 39 4 9.30 ZNF587B 0 genome.wustl.edu 37 19 58352646 58352646 + Missense_Mutation SNP G G C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 58352646 58352646 G C SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.604 p.E202Q 0.000 NULL 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 ZNF587B HGNC ENSG00000269343 tier1 - - 49 0 0.00 67 23 25.56 ZNF708 0 genome.wustl.edu 37 19 21476787 21476787 + Missense_Mutation SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 19 21476787 21476787 C A SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known missense c.981 p.K327N 0.183 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF708 HGNC ENSG00000182141 tier1 - - 35 0 0.00 51 4 7.27 ZNF804B 0 genome.wustl.edu 37 7 88964137 88964137 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35fd4c01-79ab-450d-b5eb-4a80db5db0b1 35131809-a117-4f38-b90f-8f0fe1c03561 7 88964137 88964137 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1841 p.R614I 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 66 0 0.00 20 22 52.38