Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA4 0 genome.wustl.edu 37 1 94543428 94543428 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 94543428 94543428 G T SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.1372 p.P458T 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 34 0 0.00 33 27 45.00 - - - ABCA4 0 genome.wustl.edu 37 1 94543428 94543428 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 94543428 94543428 G T SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.1372 p.P458T 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 50 0 0.00 33 27 45.00 - - - ABCA6 0 genome.wustl.edu 37 17 67094096 67094096 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 67094096 67094096 G C SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known missense c.3085 p.P1029A 0.981 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 107 0 0.00 82 13 13.68 - - - ABCA6 0 genome.wustl.edu 37 17 67094096 67094096 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 67094096 67094096 G C SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known missense c.3085 p.P1029A 0.981 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 155 0 0.00 82 13 13.68 - - - ABCC12 0 genome.wustl.edu 37 16 48167699 48167699 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 48167699 48167699 G T SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.1027 p.Q343K 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 123 0 0.00 160 47 22.71 - - - ABCC12 0 genome.wustl.edu 37 16 48167699 48167699 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 48167699 48167699 G T SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.1027 p.Q343K 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 81 0 0.00 160 47 22.71 - - - ABHD11 0 genome.wustl.edu 37 7 73151593 73151593 + Silent SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 73151593 73151593 A T SNP ABHD11 ENST00000222800 human ensembl 69_37n -1 known silent c.591 p.R197 0.000 pfam_AB_hydrolase_1,pfam_Thioesterase pfam_AB_hydrolase_1,pfam_PGAP1-like,pfam_Thioesterase,pfam_Esterase_put,prints_AB_hydrolase_1 - no_errors ABHD11 HGNC ENSG00000106077 8 0 0.00 45 23 33.82 - - - ACSM5 0 genome.wustl.edu 37 16 20442397 20442397 + Splice_Site SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 20442397 20442397 T C SNP ACSM5 ENST00000331849 human ensembl 69_37n +1 known splice_site c.1206+2 e8+2 1.000 - - - no_errors ACSM5 HGNC ENSG00000183549 15 0 0.00 76 22 22.45 - - - ACSM5 0 genome.wustl.edu 37 16 20442397 20442397 + Splice_Site SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 20442397 20442397 T C SNP ACSM5 ENST00000331849 human ensembl 69_37n +1 known splice_site c.1206+2 e8+2 1.000 - - - no_errors ACSM5 HGNC ENSG00000183549 23 0 0.00 76 22 22.45 - - - ADAMTS19 0 genome.wustl.edu 37 5 128863507 128863507 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 128863507 128863507 C G SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known missense c.1135 p.L379V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 171 0 0.00 46 30 39.47 - - - ADAMTS19 0 genome.wustl.edu 37 5 128863507 128863507 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 128863507 128863507 C G SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known missense c.1135 p.L379V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 230 0 0.00 46 30 39.47 - - - ADAMTS2 0 genome.wustl.edu 37 5 178585812 178585812 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 178585812 178585812 G A SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known silent c.1044 p.L348 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 13 0 0.00 97 38 28.15 - - - ADAMTS2 0 genome.wustl.edu 37 5 178585812 178585812 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 178585812 178585812 G A SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known silent c.1044 p.L348 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 19 0 0.00 97 38 28.15 - - - ADAMTS6 0 genome.wustl.edu 37 5 64748724 64748724 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 64748724 64748724 G T SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.653 p.P218H 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 108 0 0.00 51 31 37.80 - - - ADAMTS6 0 genome.wustl.edu 37 5 64748724 64748724 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 64748724 64748724 G T SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.653 p.P218H 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 68 0 0.00 51 31 37.80 - - - ADSL 0 genome.wustl.edu 37 22 40746017 40746017 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 40746017 40746017 C A SNP ADSL ENST00000454266 human ensembl 69_37n +1 known missense c.335 p.S112Y 1.000 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 109 0 0.00 63 21 25.00 - - - ADSL 0 genome.wustl.edu 37 22 40746017 40746017 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 40746017 40746017 C A SNP ADSL ENST00000454266 human ensembl 69_37n +1 known missense c.335 p.S112Y 1.000 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 73 0 0.00 63 21 25.00 - - - AGL 0 genome.wustl.edu 37 1 100330007 100330007 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 100330007 100330007 G C SNP AGL ENST00000294724 human ensembl 69_37n +1 known missense c.526 p.A176P 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 245 0 0.00 51 35 40.70 - - - AGL 0 genome.wustl.edu 37 1 100330007 100330007 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 100330007 100330007 G C SNP AGL ENST00000294724 human ensembl 69_37n +1 known missense c.526 p.A176P 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 350 0 0.00 51 35 40.70 - - - AHCTF1 0 genome.wustl.edu 37 1 247067282 247067282 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 247067282 247067282 T A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.962 p.K321M 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 119 0 0.00 110 17 13.39 - - - AHCTF1 0 genome.wustl.edu 37 1 247067282 247067282 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 247067282 247067282 T A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.962 p.K321M 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 74 0 0.00 110 17 13.39 - - - AKAP6 0 genome.wustl.edu 37 14 33293160 33293160 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 33293160 33293160 T A SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.6141 p.H2047Q 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 58 0 0.00 36 13 26.53 - - - AKAP6 0 genome.wustl.edu 37 14 33293160 33293160 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 33293160 33293160 T A SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.6141 p.H2047Q 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 87 0 0.00 36 13 26.53 - - - ALK 0 genome.wustl.edu 37 2 29432670 29432675 + In_Frame_Del DEL ATCCCG ATCCCG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 ATCCCG ATCCCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 29432670 29432675 ATCCCG - DEL ALK ENST00000389048 human ensembl 69_37n -1 known in_frame_del c.3818_3813 p.FGM1271in_frame_delL 1.000:1.000:0.873:1.000:1.000:0.947 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 17 0 0.00 84 19 18.27 - - - ALK 0 genome.wustl.edu 37 2 29432670 29432675 + In_Frame_Del DEL ATCCCG ATCCCG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 ATCCCG ATCCCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 29432670 29432675 ATCCCG - DEL ALK ENST00000389048 human ensembl 69_37n -1 known in_frame_del c.3818_3813 p.FGM1271in_frame_delL 1.000:1.000:0.873:1.000:1.000:0.947 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 31 0 0.00 84 19 18.27 - - - ANKRD30B 0 genome.wustl.edu 37 18 14782552 14782552 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 18 14782552 14782552 T C SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known silent c.1509 p.T503 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 195 0 0.00 41 11 21.15 - - - ANKRD30B 0 genome.wustl.edu 37 18 14782552 14782552 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 18 14782552 14782552 T C SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known silent c.1509 p.T503 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 288 0 0.00 41 11 21.15 - - - ANKRD36C 0 genome.wustl.edu 37 2 96546211 96546211 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 96546211 96546211 C T SNP ANKRD36C ENST00000456556 human ensembl 69_37n -1 known missense c.3433 p.A1145T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 459 0 0.00 97 24 19.83 - - - ANKRD36C 0 genome.wustl.edu 37 2 96546211 96546211 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 96546211 96546211 C T SNP ANKRD36C ENST00000456556 human ensembl 69_37n -1 known missense c.3433 p.A1145T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 614 0 0.00 97 24 19.83 - - - ANKRD50 0 genome.wustl.edu 37 4 125631416 125631416 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 125631416 125631416 G C SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known missense c.251 p.T84R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 44 0 0.00 71 18 20.22 - - - ANKRD50 0 genome.wustl.edu 37 4 125631416 125631416 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 125631416 125631416 G C SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known missense c.251 p.T84R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 56 0 0.00 71 18 20.22 - - - ARHGAP24 0 genome.wustl.edu 37 4 86863218 86863218 + Splice_Site SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 86863218 86863218 G T SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known splice_site c.392-1 e4-1 1.000 - - - no_errors ARHGAP24 HGNC ENSG00000138639 238 0 0.00 72 25 25.77 - - - ARHGAP24 0 genome.wustl.edu 37 4 86863218 86863218 + Splice_Site SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 86863218 86863218 G T SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known splice_site c.392-1 e4-1 1.000 - - - no_errors ARHGAP24 HGNC ENSG00000138639 333 0 0.00 72 25 25.77 - - - ARMC8 0 genome.wustl.edu 37 3 137983034 137983034 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 137983034 137983034 G C SNP ARMC8 ENST00000469044 human ensembl 69_37n +1 known missense c.1279 p.V427L 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 141 0 0.00 54 31 36.47 - - - ARMC8 0 genome.wustl.edu 37 3 137983034 137983034 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 137983034 137983034 G C SNP ARMC8 ENST00000469044 human ensembl 69_37n +1 known missense c.1279 p.V427L 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 91 0 0.00 54 31 36.47 - - - ARMCX1 0 genome.wustl.edu 37 X 100807921 100807921 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 100807921 100807921 G A SNP ARMCX1 ENST00000372829 human ensembl 69_37n +1 known missense c.8 p.R3H 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 22 0 0.00 66 41 38.32 - - - ARMCX1 0 genome.wustl.edu 37 X 100807921 100807921 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 100807921 100807921 G A SNP ARMCX1 ENST00000372829 human ensembl 69_37n +1 known missense c.8 p.R3H 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 34 0 0.00 66 41 38.32 - - - ASPH 0 genome.wustl.edu 37 8 62563641 62563641 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 62563641 62563641 G C SNP ASPH ENST00000379454 human ensembl 69_37n -1 known missense c.458 p.S153C 0.329 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 250 0 0.00 92 28 23.33 - - - ASPH 0 genome.wustl.edu 37 8 62563641 62563641 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 62563641 62563641 G C SNP ASPH ENST00000379454 human ensembl 69_37n -1 known missense c.458 p.S153C 0.329 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 350 0 0.00 92 28 23.33 - - - ATP8B2 0 genome.wustl.edu 37 1 154300293 154300293 + Silent SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 154300293 154300293 T G SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known silent c.18 p.A6 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 136 0 0.00 239 50 17.30 - - - ATP8B2 0 genome.wustl.edu 37 1 154300293 154300293 + Silent SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 154300293 154300293 T G SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known silent c.18 p.A6 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 210 0 0.00 239 50 17.30 - - - BRCA2 0 genome.wustl.edu 37 13 32953476 32953476 + Nonsense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 13 32953476 32953476 T G SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known nonsense c.8777 p.L2926* 0.941 superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 107 0 0.00 59 32 35.16 - - - BRCA2 0 genome.wustl.edu 37 13 32953476 32953476 + Nonsense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 13 32953476 32953476 T G SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known nonsense c.8777 p.L2926* 0.941 superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 150 0 0.00 59 32 35.16 - - - C1orf65 0 genome.wustl.edu 37 1 223567939 223567939 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 223567939 223567939 C G SNP C1orf65 ENST00000366875 human ensembl 69_37n +1 known missense c.1122 p.C374W 0.424 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 9 0 0.00 64 11 14.67 - - - CASR 0 genome.wustl.edu 37 3 121980913 121980913 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 121980913 121980913 A T SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.1031 p.H344L 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 24 0 0.00 73 28 27.72 - - - CASR 0 genome.wustl.edu 37 3 121980913 121980913 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 121980913 121980913 A T SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.1031 p.H344L 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 41 0 0.00 73 28 27.72 - - - CDR1 0 genome.wustl.edu 37 X 139866173 139866173 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 139866173 139866173 T G SNP CDR1 ENST00000370532 human ensembl 69_37n -1 known missense c.359 p.D120A 0.017 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 147 1 0.68 79 38 32.48 - - - CDR1 0 genome.wustl.edu 37 X 139866173 139866173 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 139866173 139866173 T G SNP CDR1 ENST00000370532 human ensembl 69_37n -1 known missense c.359 p.D120A 0.017 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 214 1 0.47 79 38 32.48 - - - CELSR2 0 genome.wustl.edu 37 1 109815559 109815559 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 109815559 109815559 G A SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.8248 p.E2750K 0.993 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 13 0 0.00 78 30 27.78 - - - CELSR2 0 genome.wustl.edu 37 1 109815559 109815559 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 109815559 109815559 G A SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.8248 p.E2750K 0.993 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 19 0 0.00 78 30 27.78 - - - CEP70 0 genome.wustl.edu 37 3 138216888 138216888 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 138216888 138216888 G C SNP CEP70 ENST00000264982 human ensembl 69_37n -1 known missense c.1717 p.L573V 1.000 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 233 0 0.00 93 67 41.61 - - - CEP70 0 genome.wustl.edu 37 3 138216888 138216888 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 138216888 138216888 G C SNP CEP70 ENST00000264982 human ensembl 69_37n -1 known missense c.1717 p.L573V 1.000 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 310 0 0.00 93 67 41.61 - - - CLIP1 0 genome.wustl.edu 37 12 122812589 122812589 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 122812589 122812589 G A SNP CLIP1 ENST00000540338 human ensembl 69_37n -1 known silent c.3154 p.L1052 0.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 120 1 0.83 67 44 39.64 - - - CLSTN2 0 genome.wustl.edu 37 3 140123537 140123537 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 140123537 140123537 C A SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.566 p.S189Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 22 0 0.00 88 20 18.52 - - - CLSTN2 0 genome.wustl.edu 37 3 140123537 140123537 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 140123537 140123537 C A SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.566 p.S189Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 32 0 0.00 88 20 18.52 - - - CNGA4 0 genome.wustl.edu 37 11 6262921 6262921 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 6262921 6262921 T C SNP CNGA4 ENST00000379936 human ensembl 69_37n +1 known missense c.1178 p.L393P 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 25 0 0.00 106 46 30.07 - - - CNGA4 0 genome.wustl.edu 37 11 6262921 6262921 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 6262921 6262921 T C SNP CNGA4 ENST00000379936 human ensembl 69_37n +1 known missense c.1178 p.L393P 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 31 0 0.00 106 46 30.07 - - - CNGA4 0 genome.wustl.edu 37 11 6262922 6262922 + Silent SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 6262922 6262922 G T SNP CNGA4 ENST00000379936 human ensembl 69_37n +1 known silent c.1179 p.L393 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 24 0 0.00 104 48 31.37 - - - CNGA4 0 genome.wustl.edu 37 11 6262922 6262922 + Silent SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 6262922 6262922 G T SNP CNGA4 ENST00000379936 human ensembl 69_37n +1 known silent c.1179 p.L393 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 30 0 0.00 104 48 31.37 - - - COL12A1 0 genome.wustl.edu 37 6 75899454 75899454 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 6 75899454 75899454 A T SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.472 p.Y158N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 70 0 0.00 42 7 14.29 - - - COL12A1 0 genome.wustl.edu 37 6 75899454 75899454 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 6 75899454 75899454 A T SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.472 p.Y158N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 97 0 0.00 42 7 14.29 - - - COL4A4 0 genome.wustl.edu 37 2 227886853 227886853 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 227886853 227886853 G C SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known missense c.4127 p.P1376R 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 10 0 0.00 42 19 31.15 - - - COL4A4 0 genome.wustl.edu 37 2 227886853 227886853 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 227886853 227886853 G C SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known missense c.4127 p.P1376R 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 8 0 0.00 42 19 31.15 - - - COL6A6 0 genome.wustl.edu 37 3 130284028 130284028 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 130284028 130284028 C A SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.852 p.S284R 0.971 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 51 0 0.00 55 26 32.10 - - - COL6A6 0 genome.wustl.edu 37 3 130284028 130284028 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 130284028 130284028 C A SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.852 p.S284R 0.971 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 69 0 0.00 55 26 32.10 - - - CPSF2 0 genome.wustl.edu 37 14 92628064 92628064 + Silent SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 92628064 92628064 A G SNP CPSF2 ENST00000298875 human ensembl 69_37n +1 known silent c.2325 p.L775 1.000 NULL pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 189 0 0.00 44 25 36.23 - - - CPSF2 0 genome.wustl.edu 37 14 92628064 92628064 + Silent SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 92628064 92628064 A G SNP CPSF2 ENST00000298875 human ensembl 69_37n +1 known silent c.2325 p.L775 1.000 NULL pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 262 0 0.00 44 25 36.23 - - - CSMD2 0 genome.wustl.edu 37 1 34191097 34191097 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 34191097 34191097 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.2548 p.D850N 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 32 0 0.00 126 82 39.42 - - - CSMD2 0 genome.wustl.edu 37 1 34191097 34191097 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 34191097 34191097 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.2548 p.D850N 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 54 0 0.00 126 82 39.42 - - - CSPP1 0 genome.wustl.edu 37 8 68089921 68089921 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 68089921 68089921 T C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.3101 p.L1034S 0.757 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 201 0 0.00 72 29 28.71 - - - CSPP1 0 genome.wustl.edu 37 8 68089921 68089921 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 68089921 68089921 T C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.3101 p.L1034S 0.757 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 316 0 0.00 72 29 28.71 - - - CXorf22 0 genome.wustl.edu 37 X 35985882 35985882 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 35985882 35985882 A G SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.1747 p.M583V 0.001 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 54 0 0.00 42 17 28.81 - - - CXorf22 0 genome.wustl.edu 37 X 35985882 35985882 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 35985882 35985882 A G SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.1747 p.M583V 0.001 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 75 0 0.00 42 17 28.81 - - - CYP4F11 0 genome.wustl.edu 37 19 16034822 16034822 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 16034822 16034822 G C SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known missense c.718 p.L240V 0.001 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 CYP4F11 HGNC ENSG00000171903 36 0 0.00 99 29 22.48 - - - CYP4F11 0 genome.wustl.edu 37 19 16034822 16034822 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 16034822 16034822 G C SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known missense c.718 p.L240V 0.001 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 CYP4F11 HGNC ENSG00000171903 52 0 0.00 99 29 22.48 - - - CYP4F2 0 genome.wustl.edu 37 19 15990642 15990642 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 15990642 15990642 G C SNP CYP4F2 ENST00000221700 human ensembl 69_37n -1 known missense c.1181 p.P394R 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_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 CYP4F2 HGNC ENSG00000186115 20 0 0.00 171 41 19.34 - - - CYP4F2 0 genome.wustl.edu 37 19 15990642 15990642 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 15990642 15990642 G C SNP CYP4F2 ENST00000221700 human ensembl 69_37n -1 known missense c.1181 p.P394R 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_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 CYP4F2 HGNC ENSG00000186115 33 0 0.00 171 41 19.34 - - - DALRD3 0 genome.wustl.edu 37 3 49053734 49053734 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 49053734 49053734 C A SNP DALRD3 ENST00000341949 human ensembl 69_37n -1 known missense c.1186 p.G396C 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 33 0 0.00 51 34 40.00 - - - DALRD3 0 genome.wustl.edu 37 3 49053734 49053734 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 49053734 49053734 C A SNP DALRD3 ENST00000341949 human ensembl 69_37n -1 known missense c.1186 p.G396C 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 40 0 0.00 51 34 40.00 - - - DEAF1 0 genome.wustl.edu 37 11 654016 654016 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 654016 654016 G A SNP DEAF1 ENST00000527170 human ensembl 69_37n -1 known nonsense c.901 p.R301* 0.974 pfam_Znf_MYND,pfscan_Znf_MYND pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DEAF1 HGNC ENSG00000177030 10 0 0.00 78 32 29.09 - - - DEAF1 0 genome.wustl.edu 37 11 654016 654016 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 654016 654016 G A SNP DEAF1 ENST00000527170 human ensembl 69_37n -1 known nonsense c.901 p.R301* 0.974 pfam_Znf_MYND,pfscan_Znf_MYND pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DEAF1 HGNC ENSG00000177030 8 0 0.00 78 32 29.09 - - - DNAH5 0 genome.wustl.edu 37 5 13841155 13841155 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 13841155 13841155 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known nonsense c.5569 p.Q1857* 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 268 0 0.00 114 31 21.38 - - - DNAH5 0 genome.wustl.edu 37 5 13841155 13841155 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 13841155 13841155 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known nonsense c.5569 p.Q1857* 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 383 0 0.00 114 31 21.38 - - - DNALI1 0 genome.wustl.edu 37 1 38030643 38030643 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 38030643 38030643 T C SNP DNALI1 ENST00000296218 human ensembl 69_37n +1 known missense c.824 p.I275T 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 216 0 0.00 58 33 36.26 - - - DNALI1 0 genome.wustl.edu 37 1 38030643 38030643 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 38030643 38030643 T C SNP DNALI1 ENST00000296218 human ensembl 69_37n +1 known missense c.824 p.I275T 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 334 0 0.00 58 33 36.26 - - - DOCK2 0 genome.wustl.edu 37 5 169507239 169507239 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 169507239 169507239 G T SNP DOCK2 ENST00000256935 human ensembl 69_37n +1 known missense c.5239 p.V1747F 0.027 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 11 0 0.00 66 30 31.25 - - - DOCK2 0 genome.wustl.edu 37 5 169507239 169507239 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 169507239 169507239 G T SNP DOCK2 ENST00000256935 human ensembl 69_37n +1 known missense c.5239 p.V1747F 0.027 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 16 0 0.00 66 30 31.25 - - - DOCK5 0 genome.wustl.edu 37 8 25193755 25193755 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 25193755 25193755 G A SNP DOCK5 ENST00000444569 human ensembl 69_37n +1 novel missense c.1507 p.E503K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK5 HGNC ENSG00000147459 258 1 0.39 47 34 41.98 - - - DOCK5 0 genome.wustl.edu 37 8 25193755 25193755 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 25193755 25193755 G A SNP DOCK5 ENST00000444569 human ensembl 69_37n +1 novel missense c.1507 p.E503K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK5 HGNC ENSG00000147459 359 1 0.28 47 34 41.98 - - - DSCAML1 0 genome.wustl.edu 37 11 117302417 117302434 + In_Frame_Del DEL GACTTCACATTCTTCCTG GACTTCACATTCTTCCTG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 GACTTCACATTCTTCCTG GACTTCACATTCTTCCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 117302417 117302434 GACTTCACATTCTTCCTG - DEL DSCAML1 ENST00000321322 human ensembl 69_37n -1 known in_frame_del c.5387_5370 p.RKNVKS1791in_frame_del 1.000:1.000:1.000:1.000:1.000:0.985:1.000:0.994:0.435:0.992:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 17 0 0.00 135 27 16.56 - - - DSCAML1 0 genome.wustl.edu 37 11 117302417 117302434 + In_Frame_Del DEL GACTTCACATTCTTCCTG GACTTCACATTCTTCCTG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 GACTTCACATTCTTCCTG GACTTCACATTCTTCCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 117302417 117302434 GACTTCACATTCTTCCTG - DEL DSCAML1 ENST00000321322 human ensembl 69_37n -1 known in_frame_del c.5387_5370 p.RKNVKS1791in_frame_del 1.000:1.000:1.000:1.000:1.000:0.985:1.000:0.994:0.435:0.992:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 28 0 0.00 135 27 16.56 - - - EEF1D 0 genome.wustl.edu 37 8 144669010 144669010 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 144669010 144669010 A T SNP EEF1D ENST00000530616 human ensembl 69_37n -1 known missense c.245 p.L82Q 0.740 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EEF1D HGNC ENSG00000104529 57 0 0.00 78 25 24.27 - - - EEF1D 0 genome.wustl.edu 37 8 144669010 144669010 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 144669010 144669010 A T SNP EEF1D ENST00000530616 human ensembl 69_37n -1 known missense c.245 p.L82Q 0.740 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EEF1D HGNC ENSG00000104529 89 0 0.00 78 25 24.27 - - - ENSG00000219492 0 genome.wustl.edu 37 4 9388948 9388948 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 9388948 9388948 G A SNP ENSG00000219492 ENST00000508324 human ensembl 69_37n -1 novel silent c.66 p.A22 0.845 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 RP11-1396O13.13 Clone_based_vega_gene ENSG00000219492 263 2 0.75 77 46 37.40 - - - ENSG00000222607 0 genome.wustl.edu 37 8 124275187 124275187 + RNA DEL G G - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 124275187 124275187 G - DEL ENSG00000222607 ENST00000410675 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors U6 RFAM ENSG00000222607 8 0 0.00 4 2 33.33 - - - EPN2 0 genome.wustl.edu 37 17 19235190 19235211 + Frame_Shift_Del DEL CCCAAAACAATGGAACTACCAG CCCAAAACAATGGAACTACCAG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CCCAAAACAATGGAACTACCAG CCCAAAACAATGGAACTACCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 19235190 19235211 CCCAAAACAATGGAACTACCAG - DEL EPN2 ENST00000314728 human ensembl 69_37n +1 known frame_shift_del c.1436_1457 p.Q480fs 1.000:1.000:1.000:0.951:0.625:0.713:0.835:0.990:0.995:0.974:0.954:0.967:0.976:0.947:0.969:0.969:0.080:0.095:0.181:0.002:0.966:1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 36 0 0.00 113 15 11.63 - - - EPN2 0 genome.wustl.edu 37 17 19235190 19235211 + Frame_Shift_Del DEL CCCAAAACAATGGAACTACCAG CCCAAAACAATGGAACTACCAG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CCCAAAACAATGGAACTACCAG CCCAAAACAATGGAACTACCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 19235190 19235211 CCCAAAACAATGGAACTACCAG - DEL EPN2 ENST00000314728 human ensembl 69_37n +1 known frame_shift_del c.1436_1457 p.Q480fs 1.000:1.000:1.000:0.951:0.625:0.713:0.835:0.990:0.995:0.974:0.954:0.967:0.976:0.947:0.969:0.969:0.080:0.095:0.181:0.002:0.966:1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 57 0 0.00 113 15 11.63 - - - EPN3 0 genome.wustl.edu 37 17 48614030 48614030 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 48614030 48614030 C T SNP EPN3 ENST00000268933 human ensembl 69_37n +1 known missense c.113 p.S38L 1.000 pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_Ubiquitin-int_motif,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 14 0 0.00 75 27 26.47 - - - EPN3 0 genome.wustl.edu 37 17 48614030 48614030 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 48614030 48614030 C T SNP EPN3 ENST00000268933 human ensembl 69_37n +1 known missense c.113 p.S38L 1.000 pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_Ubiquitin-int_motif,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 23 0 0.00 75 27 26.47 - - - ETV6 0 genome.wustl.edu 37 12 12037502 12037502 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 12037502 12037502 G C SNP ETV6 ENST00000396373 human ensembl 69_37n +1 known missense c.1133 p.R378P 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 66 0 0.00 34 27 44.26 - - - ETV6 0 genome.wustl.edu 37 12 12037502 12037502 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 12037502 12037502 G C SNP ETV6 ENST00000396373 human ensembl 69_37n +1 known missense c.1133 p.R378P 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 82 0 0.00 34 27 44.26 - - - FCGR1B 0 genome.wustl.edu 37 1 120927202 120927202 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 120927202 120927202 G A SNP FCGR1B ENST00000369384 human ensembl 69_37n -1 known nonsense c.778 p.Q260* 0.003 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1B HGNC ENSG00000198019 109 0 0.00 111 23 17.16 - - - FCGR1B 0 genome.wustl.edu 37 1 120927202 120927202 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 120927202 120927202 G A SNP FCGR1B ENST00000369384 human ensembl 69_37n -1 known nonsense c.778 p.Q260* 0.003 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1B HGNC ENSG00000198019 163 0 0.00 111 23 17.16 - - - FMN2 0 genome.wustl.edu 37 1 240555839 240555839 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 240555839 240555839 T G SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4887 p.N1629K 0.628 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 278 0 0.00 127 36 22.09 - - - FMN2 0 genome.wustl.edu 37 1 240555839 240555839 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 240555839 240555839 T G SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4887 p.N1629K 0.628 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 413 0 0.00 127 36 22.09 - - - GP5 0 genome.wustl.edu 37 3 194118427 194118427 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 194118427 194118427 C T SNP GP5 ENST00000323007 human ensembl 69_37n -1 known silent c.585 p.K195 0.082 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 11 0 0.00 42 15 26.32 - - - GP5 0 genome.wustl.edu 37 3 194118427 194118427 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 194118427 194118427 C T SNP GP5 ENST00000323007 human ensembl 69_37n -1 known silent c.585 p.K195 0.082 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 15 0 0.00 42 15 26.32 - - - GPR108 0 genome.wustl.edu 37 19 6731281 6731281 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 6731281 6731281 C T SNP GPR108 ENST00000264080 human ensembl 69_37n -1 known missense c.1363 p.V455I 0.995 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 14 0 0.00 83 35 29.66 - - - GPR37 0 genome.wustl.edu 37 7 124387321 124387321 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 124387321 124387321 T G SNP GPR37 ENST00000303921 human ensembl 69_37n -1 known missense c.1100 p.Q367P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR37 HGNC ENSG00000170775 25 0 0.00 68 62 47.69 - - - GPR37 0 genome.wustl.edu 37 7 124387321 124387321 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 124387321 124387321 T G SNP GPR37 ENST00000303921 human ensembl 69_37n -1 known missense c.1100 p.Q367P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR37 HGNC ENSG00000170775 33 0 0.00 68 62 47.69 - - - GRIA1 0 genome.wustl.edu 37 5 153144138 153144138 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 153144138 153144138 G C SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known missense c.1998 p.Q666H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 21 0 0.00 78 24 23.53 - - - GRIA1 0 genome.wustl.edu 37 5 153144138 153144138 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 153144138 153144138 G C SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known missense c.1998 p.Q666H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 31 0 0.00 78 24 23.53 - - - HDAC6 0 genome.wustl.edu 37 X 48682346 48682346 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 48682346 48682346 T C SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known silent c.3360 p.A1120 0.885 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 41 0 0.00 139 40 22.35 - - - HDAC6 0 genome.wustl.edu 37 X 48682346 48682346 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 48682346 48682346 T C SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known silent c.3360 p.A1120 0.885 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 61 0 0.00 139 40 22.35 - - - HEATR1 0 genome.wustl.edu 37 1 236739603 236739603 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 236739603 236739603 C G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.3000 p.L1000F 0.824 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 259 0 0.00 146 23 13.61 - - - HEATR1 0 genome.wustl.edu 37 1 236739603 236739603 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 236739603 236739603 C G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.3000 p.L1000F 0.824 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 389 0 0.00 146 23 13.61 - - - HEATR8 0 genome.wustl.edu 37 1 55175761 55175761 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 55175761 55175761 C A SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known missense c.3873 p.H1291Q 0.998 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 11 0 0.00 59 18 23.38 - - - HERC5 0 genome.wustl.edu 37 4 89388332 89388332 + Nonsense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 89388332 89388332 C A SNP HERC5 ENST00000264350 human ensembl 69_37n +1 known nonsense c.1034 p.S345* 0.324 pfam_Reg_chr_condens,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 119 0 0.00 71 28 28.28 - - - HERC5 0 genome.wustl.edu 37 4 89388332 89388332 + Nonsense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 89388332 89388332 C A SNP HERC5 ENST00000264350 human ensembl 69_37n +1 known nonsense c.1034 p.S345* 0.324 pfam_Reg_chr_condens,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 185 0 0.00 71 28 28.28 - - - HIBCH 0 genome.wustl.edu 37 2 191117010 191117010 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 191117010 191117010 C G SNP HIBCH ENST00000359678 human ensembl 69_37n -1 known missense c.541 p.G181R 1.000 pfam_Crotonase_core pfam_Crotonase_core - no_errors HIBCH HGNC ENSG00000198130 127 0 0.00 62 14 18.42 - - - HIBCH 0 genome.wustl.edu 37 2 191117010 191117010 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 191117010 191117010 C G SNP HIBCH ENST00000359678 human ensembl 69_37n -1 known missense c.541 p.G181R 1.000 pfam_Crotonase_core pfam_Crotonase_core - no_errors HIBCH HGNC ENSG00000198130 84 0 0.00 62 14 18.42 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123995 26123995 + Silent SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 6 26123995 26123995 C G SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known silent c.138 p.L46 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 40 0 0.00 146 48 24.74 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123995 26123995 + Silent SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 6 26123995 26123995 C G SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known silent c.138 p.L46 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 64 0 0.00 146 48 24.74 - - - HSD17B4 0 genome.wustl.edu 37 5 118824925 118824925 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 118824925 118824925 C G SNP HSD17B4 ENST00000256216 human ensembl 69_37n +1 known missense c.661 p.L221V 0.672 prints_Glc/ribitol_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 189 0 0.00 119 49 29.17 - - - HSD17B4 0 genome.wustl.edu 37 5 118824925 118824925 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 118824925 118824925 C G SNP HSD17B4 ENST00000256216 human ensembl 69_37n +1 known missense c.661 p.L221V 0.672 prints_Glc/ribitol_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 258 0 0.00 119 49 29.17 - - - HSPA4 0 genome.wustl.edu 37 5 132412489 132412489 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 132412489 132412489 G C SNP HSPA4 ENST00000304858 human ensembl 69_37n +1 known missense c.807 p.E269D 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 157 1 0.63 55 36 39.56 - - - HSPA4 0 genome.wustl.edu 37 5 132412489 132412489 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 132412489 132412489 G C SNP HSPA4 ENST00000304858 human ensembl 69_37n +1 known missense c.807 p.E269D 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 237 1 0.42 55 36 39.56 - - - IDI2-AS1 0 genome.wustl.edu 37 10 1089851 1089869 + RNA DEL TGCACTTCCTTGAACAGAG TGCACTTCCTTGAACAGAG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 TGCACTTCCTTGAACAGAG TGCACTTCCTTGAACAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 1089851 1089869 TGCACTTCCTTGAACAGAG - DEL IDI2-AS1 ENST00000428780 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.010:0.009:0.000:0.000:0.000 - - - no_errors IDI2-AS1 HGNC ENSG00000232656 111 0 0.00 58 37 38.95 - - - IDI2-AS1 0 genome.wustl.edu 37 10 1089851 1089869 + RNA DEL TGCACTTCCTTGAACAGAG TGCACTTCCTTGAACAGAG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 TGCACTTCCTTGAACAGAG TGCACTTCCTTGAACAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 1089851 1089869 TGCACTTCCTTGAACAGAG - DEL IDI2-AS1 ENST00000428780 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.010:0.009:0.000:0.000:0.000 - - - no_errors IDI2-AS1 HGNC ENSG00000232656 80 0 0.00 58 37 38.95 - - - IGHV2-26 0 genome.wustl.edu 37 14 106757830 106757830 + Silent SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 106757830 106757830 A G SNP IGHV2-26 ENST00000390611 human ensembl 69_37n -1 known silent c.177 p.R59 0.550 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV2-26 HGNC ENSG00000211951 27 0 0.00 111 30 21.28 - - - IGHV2-26 0 genome.wustl.edu 37 14 106757830 106757830 + Silent SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 106757830 106757830 A G SNP IGHV2-26 ENST00000390611 human ensembl 69_37n -1 known silent c.177 p.R59 0.550 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV2-26 HGNC ENSG00000211951 47 0 0.00 111 30 21.28 - - - ITIH1 0 genome.wustl.edu 37 3 52820422 52820422 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 52820422 52820422 C G SNP ITIH1 ENST00000273283 human ensembl 69_37n +1 known missense c.1705 p.L569V 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 16 0 0.00 63 14 18.18 - - - ITIH1 0 genome.wustl.edu 37 3 52820422 52820422 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 52820422 52820422 C G SNP ITIH1 ENST00000273283 human ensembl 69_37n +1 known missense c.1705 p.L569V 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 23 0 0.00 63 14 18.18 - - - KAT2A 0 genome.wustl.edu 37 17 40266620 40266620 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 40266620 40266620 G A SNP KAT2A ENST00000588759 human ensembl 69_37n -1 known missense c.196 p.H66Y 0.998 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_start_codon KAT2A HGNC ENSG00000108773 21 0 0.00 110 35 24.14 - - - KAT2A 0 genome.wustl.edu 37 17 40266620 40266620 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 40266620 40266620 G A SNP KAT2A ENST00000588759 human ensembl 69_37n -1 known missense c.196 p.H66Y 0.998 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_start_codon KAT2A HGNC ENSG00000108773 34 0 0.00 110 35 24.14 - - - KCNN3 0 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 154842243 154842243 A C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.198 p.L66 0.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 9 0 0.00 62 18 22.22 - - - KCNN3 0 genome.wustl.edu 37 1 154842244 154842244 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 154842244 154842244 A T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.197 p.L66H 0.166 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 9 0 0.00 63 18 21.43 - - - KIAA0195 0 genome.wustl.edu 37 17 73491664 73491664 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 73491664 73491664 C G SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known missense c.2884 p.L962V 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 11 0 0.00 43 24 35.82 - - - KIAA0825 0 genome.wustl.edu 37 5 93752964 93752964 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 93752964 93752964 G C SNP KIAA0825 ENST00000427991 human ensembl 69_37n -1 known missense c.2604 p.N868K 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 163 0 0.00 48 31 39.24 - - - KIAA0825 0 genome.wustl.edu 37 5 93752964 93752964 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 93752964 93752964 G C SNP KIAA0825 ENST00000427991 human ensembl 69_37n -1 known missense c.2604 p.N868K 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 219 0 0.00 48 31 39.24 - - - KIAA1841 0 genome.wustl.edu 37 2 61343192 61343192 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 61343192 61343192 A G SNP KIAA1841 ENST00000356719 human ensembl 69_37n +1 known missense c.1823 p.K608R 0.971 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 175 0 0.00 226 45 16.61 - - - KIAA1841 0 genome.wustl.edu 37 2 61343192 61343192 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 61343192 61343192 A G SNP KIAA1841 ENST00000356719 human ensembl 69_37n +1 known missense c.1823 p.K608R 0.971 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 239 0 0.00 226 45 16.61 - - - KRT73 0 genome.wustl.edu 37 12 53002195 53002195 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 53002195 53002195 C T SNP KRT73 ENST00000305748 human ensembl 69_37n -1 known missense c.1408 p.A470T 0.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 18 0 0.00 46 28 37.84 - - - KRT73 0 genome.wustl.edu 37 12 53002195 53002195 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 53002195 53002195 C T SNP KRT73 ENST00000305748 human ensembl 69_37n -1 known missense c.1408 p.A470T 0.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 32 0 0.00 46 28 37.84 - - - KRT85 0 genome.wustl.edu 37 12 52760852 52760852 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 52760852 52760852 T A SNP KRT85 ENST00000257901 human ensembl 69_37n -1 known missense c.338 p.D113V 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 24 0 0.00 130 55 29.73 - - - KRT85 0 genome.wustl.edu 37 12 52760852 52760852 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 52760852 52760852 T A SNP KRT85 ENST00000257901 human ensembl 69_37n -1 known missense c.338 p.D113V 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 49 0 0.00 130 55 29.73 - - - KRTAP20-3 0 genome.wustl.edu 37 21 32015243 32015243 + Silent SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 32015243 32015243 C A SNP KRTAP20-3 ENST00000382826 human ensembl 69_37n +1 novel silent c.36 p.G12 0.126 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-3 HGNC ENSG00000206104 109 0 0.00 86 32 27.12 - - - KRTAP20-3 0 genome.wustl.edu 37 21 32015243 32015243 + Silent SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 32015243 32015243 C A SNP KRTAP20-3 ENST00000382826 human ensembl 69_37n +1 novel silent c.36 p.G12 0.126 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-3 HGNC ENSG00000206104 67 0 0.00 86 32 27.12 - - - LETM1 0 genome.wustl.edu 37 4 1838173 1838173 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 1838173 1838173 C T SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known missense c.721 p.E241K 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 25 0 0.00 85 45 34.62 - - - LETM1 0 genome.wustl.edu 37 4 1838173 1838173 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 1838173 1838173 C T SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known missense c.721 p.E241K 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 42 0 0.00 85 45 34.62 - - - LINC00152 0 genome.wustl.edu 37 2 87820957 87820964 + RNA DEL TCGGTTTC TCGGTTTC - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 TCGGTTTC TCGGTTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 87820957 87820964 TCGGTTTC - DEL LINC00152 ENST00000414584 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000 - - - no_errors LINC00152 HGNC ENSG00000222041 37 0 0.00 134 19 12.10 - - - LINC00152 0 genome.wustl.edu 37 2 87820957 87820964 + RNA DEL TCGGTTTC TCGGTTTC - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 TCGGTTTC TCGGTTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 87820957 87820964 TCGGTTTC - DEL LINC00152 ENST00000414584 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000 - - - no_errors LINC00152 HGNC ENSG00000222041 59 0 0.00 134 19 12.10 - - - LMOD1 0 genome.wustl.edu 37 1 201869266 201869266 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 201869266 201869266 T C SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known missense c.875 p.E292G 0.001 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 113 0 0.00 198 50 20.16 - - - LMOD1 0 genome.wustl.edu 37 1 201869266 201869266 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 201869266 201869266 T C SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known missense c.875 p.E292G 0.001 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 144 0 0.00 198 50 20.16 - - - LRRC70 0 genome.wustl.edu 37 5 61875866 61875866 + Nonsense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 61875866 61875866 C T SNP LRRC70 ENST00000334994 human ensembl 69_37n +1 known nonsense c.601 p.Q201* 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC70 HGNC ENSG00000186105 131 0 0.00 27 25 48.08 - - - LRRC70 0 genome.wustl.edu 37 5 61875866 61875866 + Nonsense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 61875866 61875866 C T SNP LRRC70 ENST00000334994 human ensembl 69_37n +1 known nonsense c.601 p.Q201* 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC70 HGNC ENSG00000186105 205 0 0.00 27 25 48.08 - - - MADD 0 genome.wustl.edu 37 11 47296330 47296330 + Silent SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 47296330 47296330 C A SNP MADD ENST00000311027 human ensembl 69_37n +1 known silent c.279 p.I93 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_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 MADD HGNC ENSG00000110514 18 0 0.00 47 15 24.19 - - - MADD 0 genome.wustl.edu 37 11 47296330 47296330 + Silent SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 47296330 47296330 C A SNP MADD ENST00000311027 human ensembl 69_37n +1 known silent c.279 p.I93 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_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 MADD HGNC ENSG00000110514 24 0 0.00 47 15 24.19 - - - MAP3K2 0 genome.wustl.edu 37 2 128084359 128084359 + Silent SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 128084359 128084359 T A SNP MAP3K2 ENST00000344908 human ensembl 69_37n -1 known silent c.501 p.P167 0.625 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors MAP3K2 HGNC ENSG00000169967 135 0 0.00 44 24 35.29 - - - MAP3K2 0 genome.wustl.edu 37 2 128084359 128084359 + Silent SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 128084359 128084359 T A SNP MAP3K2 ENST00000344908 human ensembl 69_37n -1 known silent c.501 p.P167 0.625 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors MAP3K2 HGNC ENSG00000169967 92 0 0.00 44 24 35.29 - - - MAPK6 0 genome.wustl.edu 37 15 52356303 52356303 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 15 52356303 52356303 T C SNP MAPK6 ENST00000261845 human ensembl 69_37n +1 known silent c.1272 p.C424 0.998 NULL pfam_Prot_kinase_cat_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_cat_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 110 0 0.00 26 32 55.17 - - - MAPK6 0 genome.wustl.edu 37 15 52356303 52356303 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 15 52356303 52356303 T C SNP MAPK6 ENST00000261845 human ensembl 69_37n +1 known silent c.1272 p.C424 0.998 NULL pfam_Prot_kinase_cat_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_cat_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 75 0 0.00 26 32 55.17 - - - METTL11B 0 genome.wustl.edu 37 1 170129793 170129793 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 170129793 170129793 G T SNP METTL11B ENST00000439373 human ensembl 69_37n +1 known missense c.289 p.D97Y 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 59 0 0.00 83 15 15.31 - - - METTL11B 0 genome.wustl.edu 37 1 170129793 170129793 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 170129793 170129793 G T SNP METTL11B ENST00000439373 human ensembl 69_37n +1 known missense c.289 p.D97Y 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 93 0 0.00 83 15 15.31 - - - MIS18BP1 0 genome.wustl.edu 37 14 45693126 45693135 + Frame_Shift_Del DEL AAGTTTCTGT AAGTTTCTGT - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 AAGTTTCTGT AAGTTTCTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 45693126 45693135 AAGTTTCTGT - DEL MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known frame_shift_del c.2664_2655 p.L885fs 1.000:0.999:0.962:0.597:0.787:0.983:0.998:1.000:0.998:0.997 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 142 0 0.00 45 7 13.21 - - - MIS18BP1 0 genome.wustl.edu 37 14 45693126 45693135 + Frame_Shift_Del DEL AAGTTTCTGT AAGTTTCTGT - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 AAGTTTCTGT AAGTTTCTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 45693126 45693135 AAGTTTCTGT - DEL MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known frame_shift_del c.2664_2655 p.L885fs 1.000:0.999:0.962:0.597:0.787:0.983:0.998:1.000:0.998:0.997 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 207 0 0.00 45 7 13.21 - - - MS4A15 0 genome.wustl.edu 37 11 60540906 60540906 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 60540906 60540906 G A SNP MS4A15 ENST00000405633 human ensembl 69_37n +1 known silent c.447 p.A149 0.717 pfam_CD20-like pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 15 0 0.00 114 35 23.49 - - - MS4A15 0 genome.wustl.edu 37 11 60540906 60540906 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 60540906 60540906 G A SNP MS4A15 ENST00000405633 human ensembl 69_37n +1 known silent c.447 p.A149 0.717 pfam_CD20-like pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 22 0 0.00 114 35 23.49 - - - MUC16 0 genome.wustl.edu 37 19 9086543 9086543 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 9086543 9086543 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.5272 p.P1758T 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 107 0 0.00 175 93 34.70 - - - MUC16 0 genome.wustl.edu 37 19 9086543 9086543 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 9086543 9086543 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.5272 p.P1758T 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 69 0 0.00 175 93 34.70 - - - MUC4 0 genome.wustl.edu 37 3 195512196 195512196 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 195512196 195512196 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.6255 p.D2085 0.104 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 121 1 0.82 167 30 15.23 - - - MUC4 0 genome.wustl.edu 37 3 195512196 195512196 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 195512196 195512196 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.6255 p.D2085 0.104 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 76 0 0.00 167 30 15.23 - - - MX1 0 genome.wustl.edu 37 21 42824598 42824598 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 42824598 42824598 G A SNP MX1 ENST00000398598 human ensembl 69_37n +1 known silent c.1560 p.L520 0.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 45 0 0.00 75 19 20.21 - - - MX1 0 genome.wustl.edu 37 21 42824598 42824598 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 42824598 42824598 G A SNP MX1 ENST00000398598 human ensembl 69_37n +1 known silent c.1560 p.L520 0.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 65 0 0.00 75 19 20.21 - - - MYH11 0 genome.wustl.edu 37 16 15833955 15833955 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 15833955 15833955 C G SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.2971 p.E991Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 50 0 0.00 95 41 29.93 - - - MYH11 0 genome.wustl.edu 37 16 15833955 15833955 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 15833955 15833955 C G SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.2971 p.E991Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 71 0 0.00 95 41 29.93 - - - MYH11 0 genome.wustl.edu 37 16 15850316 15850316 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 15850316 15850316 G T SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.1652 p.A551D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 26 0 0.00 91 43 32.09 - - - MYH11 0 genome.wustl.edu 37 16 15850316 15850316 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 15850316 15850316 G T SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.1652 p.A551D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 36 0 0.00 91 43 32.09 - - - NBAS 0 genome.wustl.edu 37 2 15378705 15378705 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 15378705 15378705 C T SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.5830 p.A1944T 0.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 334 0 0.00 137 69 33.50 - - - NBAS 0 genome.wustl.edu 37 2 15378705 15378705 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 15378705 15378705 C T SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.5830 p.A1944T 0.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 445 0 0.00 137 69 33.50 - - - NPAT 0 genome.wustl.edu 37 11 108040720 108040720 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 108040720 108040720 C T SNP NPAT ENST00000278612 human ensembl 69_37n -1 known missense c.2836 p.V946I 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 140 0 0.00 49 25 33.78 - - - NPAT 0 genome.wustl.edu 37 11 108040720 108040720 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 108040720 108040720 C T SNP NPAT ENST00000278612 human ensembl 69_37n -1 known missense c.2836 p.V946I 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 96 0 0.00 49 25 33.78 - - - NTNG1 0 genome.wustl.edu 37 1 107963749 107963749 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 107963749 107963749 T C SNP NTNG1 ENST00000370066 human ensembl 69_37n +1 known silent c.1197 p.V399 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 241 0 0.00 83 29 25.89 - - - NTNG1 0 genome.wustl.edu 37 1 107963749 107963749 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 107963749 107963749 T C SNP NTNG1 ENST00000370066 human ensembl 69_37n +1 known silent c.1197 p.V399 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 314 0 0.00 83 29 25.89 - - - NUDT21 0 genome.wustl.edu 37 16 56481707 56481707 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 56481707 56481707 A C SNP NUDT21 ENST00000300291 human ensembl 69_37n -1 known missense c.311 p.F104C 1.000 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 44 0 0.00 73 39 34.82 - - - NUDT21 0 genome.wustl.edu 37 16 56481707 56481707 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 56481707 56481707 A C SNP NUDT21 ENST00000300291 human ensembl 69_37n -1 known missense c.311 p.F104C 1.000 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 59 0 0.00 73 39 34.82 - - - NUP98 0 genome.wustl.edu 37 11 3752719 3752725 + Frame_Shift_Del DEL CCGGACT CCGGACT - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CCGGACT CCGGACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 3752719 3752725 CCGGACT - DEL NUP98 ENST00000324932 human ensembl 69_37n -1 known frame_shift_del c.1632_1626 p.R542fs 0.695:0.999:0.998:0.666:1.000:1.000:1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 144 0 0.00 143 36 20.11 - - - NUP98 0 genome.wustl.edu 37 11 3752719 3752725 + Frame_Shift_Del DEL CCGGACT CCGGACT - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CCGGACT CCGGACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 3752719 3752725 CCGGACT - DEL NUP98 ENST00000324932 human ensembl 69_37n -1 known frame_shift_del c.1632_1626 p.R542fs 0.695:0.999:0.998:0.666:1.000:1.000:1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 89 0 0.00 143 36 20.11 - - - OR2G3 0 genome.wustl.edu 37 1 247768964 247768964 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 247768964 247768964 T C SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known missense c.77 p.V26A 0.001 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 174 1 0.57 284 66 18.86 - - - OR2G3 0 genome.wustl.edu 37 1 247768964 247768964 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 247768964 247768964 T C SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known missense c.77 p.V26A 0.001 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 248 1 0.40 284 66 18.86 - - - OR2T10 0 genome.wustl.edu 37 1 248756246 248756246 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 248756246 248756246 G T SNP OR2T10 ENST00000330500 human ensembl 69_37n -1 known missense c.824 p.S275Y 0.039 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2T10 HGNC ENSG00000184022 60 0 0.00 89 18 16.82 - - - OR2T10 0 genome.wustl.edu 37 1 248756246 248756246 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 248756246 248756246 G T SNP OR2T10 ENST00000330500 human ensembl 69_37n -1 known missense c.824 p.S275Y 0.039 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2T10 HGNC ENSG00000184022 87 0 0.00 89 18 16.82 - - - OR2T34 0 genome.wustl.edu 37 1 248737771 248737771 + Silent SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 248737771 248737771 G T SNP OR2T34 ENST00000328782 human ensembl 69_37n -1 known silent c.288 p.T96 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 32 0 0.00 222 44 16.54 - - - OR2T34 0 genome.wustl.edu 37 1 248737771 248737771 + Silent SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 248737771 248737771 G T SNP OR2T34 ENST00000328782 human ensembl 69_37n -1 known silent c.288 p.T96 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 43 0 0.00 222 44 16.54 - - - OR4M1 0 genome.wustl.edu 37 14 20249295 20249295 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 20249295 20249295 G A SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known missense c.814 p.V272M 0.349 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 167 0 0.00 125 57 31.32 - - - OR4M1 0 genome.wustl.edu 37 14 20249295 20249295 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 20249295 20249295 G A SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known missense c.814 p.V272M 0.349 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 244 0 0.00 125 57 31.32 - - - OR7D2 0 genome.wustl.edu 37 19 9297338 9297338 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 9297338 9297338 A G SNP OR7D2 ENST00000344248 human ensembl 69_37n +1 known missense c.881 p.N294S 0.878 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR7D2 HGNC ENSG00000188000 17 0 0.00 29 21 42.00 - - - OR7D2 0 genome.wustl.edu 37 19 9297338 9297338 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 9297338 9297338 A G SNP OR7D2 ENST00000344248 human ensembl 69_37n +1 known missense c.881 p.N294S 0.878 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR7D2 HGNC ENSG00000188000 24 0 0.00 29 21 42.00 - - - P4HB 0 genome.wustl.edu 37 17 79803027 79803027 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 79803027 79803027 T A SNP P4HB ENST00000331483 human ensembl 69_37n -1 known missense c.1439 p.D480V 0.966 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 21 0 0.00 151 105 40.54 - - - P4HB 0 genome.wustl.edu 37 17 79803027 79803027 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 79803027 79803027 T A SNP P4HB ENST00000331483 human ensembl 69_37n -1 known missense c.1439 p.D480V 0.966 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 31 0 0.00 151 105 40.54 - - - PCDHB16 0 genome.wustl.edu 37 5 140562836 140562836 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 140562836 140562836 C T SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known silent c.702 p.D234 0.381 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 19 0 0.00 49 22 30.99 - - - PCDHB16 0 genome.wustl.edu 37 5 140562836 140562836 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 140562836 140562836 C T SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known silent c.702 p.D234 0.381 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 30 0 0.00 49 22 30.99 - - - PCNXL2 0 genome.wustl.edu 37 1 233395012 233395012 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 233395012 233395012 G C SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.596 p.A199G 0.050 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 41 0 0.00 179 31 14.62 - - - PCNXL2 0 genome.wustl.edu 37 1 233395012 233395012 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 233395012 233395012 G C SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.596 p.A199G 0.050 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 69 0 0.00 179 31 14.62 - - - PDGFRA 0 genome.wustl.edu 37 4 55156541 55156541 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 55156541 55156541 G C SNP PDGFRA ENST00000257290 human ensembl 69_37n +1 known missense c.2942 p.R981P 0.677 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 42 0 0.00 86 40 31.75 - - - PDGFRA 0 genome.wustl.edu 37 4 55156541 55156541 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 55156541 55156541 G C SNP PDGFRA ENST00000257290 human ensembl 69_37n +1 known missense c.2942 p.R981P 0.677 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 70 0 0.00 86 40 31.75 - - - PGLYRP4 0 genome.wustl.edu 37 1 153312921 153312921 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 153312921 153312921 G A SNP PGLYRP4 ENST00000359650 human ensembl 69_37n -1 known silent c.760 p.L254 0.021 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 23 0 0.00 103 35 25.36 - - - PGLYRP4 0 genome.wustl.edu 37 1 153312921 153312921 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 153312921 153312921 G A SNP PGLYRP4 ENST00000359650 human ensembl 69_37n -1 known silent c.760 p.L254 0.021 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 33 0 0.00 103 35 25.36 - - - PHF21B 0 genome.wustl.edu 37 22 45312307 45312307 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 45312307 45312307 G A SNP PHF21B ENST00000313237 human ensembl 69_37n -1 known silent c.417 p.L139 0.028 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 16 0 0.00 47 25 34.72 - - - PHF21B 0 genome.wustl.edu 37 22 45312307 45312307 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 45312307 45312307 G A SNP PHF21B ENST00000313237 human ensembl 69_37n -1 known silent c.417 p.L139 0.028 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 28 0 0.00 47 25 34.72 - - - PLBD2 0 genome.wustl.edu 37 12 113812735 113812735 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 113812735 113812735 A G SNP PLBD2 ENST00000280800 human ensembl 69_37n +1 known missense c.782 p.H261R 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 23 0 0.00 51 45 46.88 - - - PLBD2 0 genome.wustl.edu 37 12 113812735 113812735 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 113812735 113812735 A G SNP PLBD2 ENST00000280800 human ensembl 69_37n +1 known missense c.782 p.H261R 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 31 0 0.00 51 45 46.88 - - - PLCL2 0 genome.wustl.edu 37 3 17053574 17053574 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 17053574 17053574 G A SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known nonsense c.2358 p.W786* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 122 0 0.00 48 16 25.00 - - - PLCL2 0 genome.wustl.edu 37 3 17053574 17053574 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 17053574 17053574 G A SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known nonsense c.2358 p.W786* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 82 0 0.00 48 16 25.00 - - - PLCL2 0 genome.wustl.edu 37 3 17131237 17131249 + Frame_Shift_Del DEL CTTTTGAAATATG CTTTTGAAATATG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CTTTTGAAATATG CTTTTGAAATATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 17131237 17131249 CTTTTGAAATATG - DEL PLCL2 ENST00000418129 human ensembl 69_37n +1 known frame_shift_del c.2839_2851 p.L948fs 1.000:1.000:0.989:0.991:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.779:1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 150 0 0.00 52 11 17.46 - - - PLCL2 0 genome.wustl.edu 37 3 17131237 17131249 + Frame_Shift_Del DEL CTTTTGAAATATG CTTTTGAAATATG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CTTTTGAAATATG CTTTTGAAATATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 17131237 17131249 CTTTTGAAATATG - DEL PLCL2 ENST00000418129 human ensembl 69_37n +1 known frame_shift_del c.2839_2851 p.L948fs 1.000:1.000:0.989:0.991:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.779:1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 212 0 0.00 52 11 17.46 - - - PLEC 0 genome.wustl.edu 37 8 144994265 144994265 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 144994265 144994265 G C SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.10135 p.P3379A 0.671 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 8 0 0.00 39 9 18.75 - - - PMEL 0 genome.wustl.edu 37 12 56351004 56351004 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 56351004 56351004 A G SNP PMEL ENST00000549404 human ensembl 69_37n -1 novel missense c.745 p.C249R 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PMEL HGNC ENSG00000185664 16 0 0.00 26 24 48.00 - - - PMEL 0 genome.wustl.edu 37 12 56351004 56351004 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 56351004 56351004 A G SNP PMEL ENST00000549404 human ensembl 69_37n -1 novel missense c.745 p.C249R 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PMEL HGNC ENSG00000185664 22 0 0.00 26 24 48.00 - - - PNLIPRP3 0 genome.wustl.edu 37 10 118236225 118236225 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 118236225 118236225 A T SNP PNLIPRP3 ENST00000369230 human ensembl 69_37n +1 known missense c.1234 p.N412Y 0.836 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 130 1 0.76 43 34 44.16 - - - PNLIPRP3 0 genome.wustl.edu 37 10 118236225 118236225 + Missense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 118236225 118236225 A T SNP PNLIPRP3 ENST00000369230 human ensembl 69_37n +1 known missense c.1234 p.N412Y 0.836 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 194 1 0.51 43 34 44.16 - - - POLR1B 0 genome.wustl.edu 37 2 113321941 113321941 + Splice_Site SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 113321941 113321941 A G SNP POLR1B ENST00000541869 human ensembl 69_37n +1 known splice_site c.1727-2 e11-2 1.000 - - - no_errors POLR1B HGNC ENSG00000125630 40 0 0.00 102 38 27.14 - - - POLR1B 0 genome.wustl.edu 37 2 113321941 113321941 + Splice_Site SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 113321941 113321941 A G SNP POLR1B ENST00000541869 human ensembl 69_37n +1 known splice_site c.1727-2 e11-2 1.000 - - - no_errors POLR1B HGNC ENSG00000125630 52 0 0.00 102 38 27.14 - - - POLR2A 0 genome.wustl.edu 37 17 7405859 7405859 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 7405859 7405859 C G SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known missense c.2595 p.I865M 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 13 0 0.00 40 26 39.39 - - - POLR2A 0 genome.wustl.edu 37 17 7405859 7405859 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 7405859 7405859 C G SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known missense c.2595 p.I865M 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 21 0 0.00 40 26 39.39 - - - POPDC2 0 genome.wustl.edu 37 3 119379073 119379073 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 119379073 119379073 C T SNP POPDC2 ENST00000341124 human ensembl 69_37n -1 known silent c.198 p.L66 0.998 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 18 0 0.00 135 57 29.69 - - - POPDC2 0 genome.wustl.edu 37 3 119379073 119379073 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 119379073 119379073 C T SNP POPDC2 ENST00000341124 human ensembl 69_37n -1 known silent c.198 p.L66 0.998 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 35 0 0.00 135 57 29.69 - - - PRB4 0 genome.wustl.edu 37 12 11461466 11461466 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 11461466 11461466 G C SNP PRB4 ENST00000279575 human ensembl 69_37n -1 known missense c.451 p.Q151E 0.001 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 31 0 0.00 74 41 35.65 - - - PRB4 0 genome.wustl.edu 37 12 11461466 11461466 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 12 11461466 11461466 G C SNP PRB4 ENST00000279575 human ensembl 69_37n -1 known missense c.451 p.Q151E 0.001 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 50 0 0.00 74 41 35.65 - - - PREX2 0 genome.wustl.edu 37 8 69033276 69033276 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 69033276 69033276 T A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.3716 p.F1239Y 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 37 0 0.00 50 18 26.47 - - - PREX2 0 genome.wustl.edu 37 8 69033276 69033276 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 69033276 69033276 T A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.3716 p.F1239Y 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 51 0 0.00 50 18 26.47 - - - PRM3 0 genome.wustl.edu 37 16 11367145 11367145 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 11367145 11367145 G T SNP PRM3 ENST00000327157 human ensembl 69_37n -1 known missense c.308 p.S103Y 0.842 NULL NULL - no_stop_codon:pseudogene PRM3 HGNC ENSG00000178257 14 0 0.00 72 43 37.39 - - - PRM3 0 genome.wustl.edu 37 16 11367145 11367145 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 11367145 11367145 G T SNP PRM3 ENST00000327157 human ensembl 69_37n -1 known missense c.308 p.S103Y 0.842 NULL NULL - no_stop_codon:pseudogene PRM3 HGNC ENSG00000178257 19 0 0.00 72 43 37.39 - - - PTK2 0 genome.wustl.edu 37 8 141753376 141753376 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 141753376 141753376 C A SNP PTK2 ENST00000395218 human ensembl 69_37n -1 known missense c.1688 p.G563V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 285 0 0.00 109 25 18.66 - - - PTK2 0 genome.wustl.edu 37 8 141753376 141753376 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 141753376 141753376 C A SNP PTK2 ENST00000395218 human ensembl 69_37n -1 known missense c.1688 p.G563V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 401 0 0.00 109 25 18.66 - - - RAB22A 0 genome.wustl.edu 37 20 56929271 56929271 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 20 56929271 56929271 A C SNP RAB22A ENST00000244040 human ensembl 69_37n +1 known missense c.437 p.E146A 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB22A HGNC ENSG00000124209 116 0 0.00 137 38 21.71 - - - RAB22A 0 genome.wustl.edu 37 20 56929271 56929271 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 20 56929271 56929271 A C SNP RAB22A ENST00000244040 human ensembl 69_37n +1 known missense c.437 p.E146A 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB22A HGNC ENSG00000124209 168 0 0.00 137 38 21.71 - - - RAB22A 0 genome.wustl.edu 37 20 56929272 56929272 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 20 56929272 56929272 G T SNP RAB22A ENST00000244040 human ensembl 69_37n +1 known missense c.438 p.E146D 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB22A HGNC ENSG00000124209 115 0 0.00 135 38 21.97 - - - RAB22A 0 genome.wustl.edu 37 20 56929272 56929272 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 20 56929272 56929272 G T SNP RAB22A ENST00000244040 human ensembl 69_37n +1 known missense c.438 p.E146D 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB22A HGNC ENSG00000124209 168 0 0.00 135 38 21.97 - - - RELN 0 genome.wustl.edu 37 7 103216144 103216144 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 103216144 103216144 C A SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.4154 p.R1385I 1.000 superfamily_Growth_fac_rcpt pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 53 0 0.00 89 31 25.83 - - - RELN 0 genome.wustl.edu 37 7 103216144 103216144 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 103216144 103216144 C A SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.4154 p.R1385I 1.000 superfamily_Growth_fac_rcpt pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 80 0 0.00 89 31 25.83 - - - RSPO1 0 genome.wustl.edu 37 1 38078565 38078565 + Silent SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 38078565 38078565 G T SNP RSPO1 ENST00000356545 human ensembl 69_37n -1 known silent c.654 p.G218 0.995 NULL pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 15 0 0.00 73 51 40.48 - - - RSPO1 0 genome.wustl.edu 37 1 38078565 38078565 + Silent SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 38078565 38078565 G T SNP RSPO1 ENST00000356545 human ensembl 69_37n -1 known silent c.654 p.G218 0.995 NULL pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 22 0 0.00 73 51 40.48 - - - SFMBT2 0 genome.wustl.edu 37 10 7318923 7318923 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 7318923 7318923 T C SNP SFMBT2 ENST00000361972 human ensembl 69_37n -1 known silent c.801 p.E267 0.057 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 149 0 0.00 48 70 59.32 - - - SFMBT2 0 genome.wustl.edu 37 10 7318923 7318923 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 7318923 7318923 T C SNP SFMBT2 ENST00000361972 human ensembl 69_37n -1 known silent c.801 p.E267 0.057 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 203 0 0.00 48 70 59.32 - - - SFXN5 0 genome.wustl.edu 37 2 73215386 73215386 + Splice_Site SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 73215386 73215386 C T SNP SFXN5 ENST00000272433 human ensembl 69_37n -1 known splice_site c.625+1 e10+1 1.000 - - - no_errors SFXN5 HGNC ENSG00000144040 28 0 0.00 149 53 26.24 - - - SFXN5 0 genome.wustl.edu 37 2 73215386 73215386 + Splice_Site SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 73215386 73215386 C T SNP SFXN5 ENST00000272433 human ensembl 69_37n -1 known splice_site c.625+1 e10+1 1.000 - - - no_errors SFXN5 HGNC ENSG00000144040 39 0 0.00 149 53 26.24 - - - SLC25A10 0 genome.wustl.edu 37 17 79671378 79671379 + Frame_Shift_Ins INS - - C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 79671378 79671379 - C INS SLC25A10 ENST00000541223 human ensembl 69_37n +1 known frame_shift_ins c.179_180 p.K63fs 1.000:1.000 superfamily_Ribosomal_L7/L12_oligo pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,prints_Mit_uncoupling,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A10 HGNC ENSG00000183048 12 0 0.00 152 123 44.73 - - - SLC25A10 0 genome.wustl.edu 37 17 79671378 79671379 + Frame_Shift_Ins INS - - C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 79671378 79671379 - C INS SLC25A10 ENST00000541223 human ensembl 69_37n +1 known frame_shift_ins c.179_180 p.K63fs 1.000:1.000 superfamily_Ribosomal_L7/L12_oligo pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,prints_Mit_uncoupling,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A10 HGNC ENSG00000183048 22 0 0.00 152 123 44.73 - - - SLCO4C1 0 genome.wustl.edu 37 5 101572605 101572605 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 101572605 101572605 A G SNP SLCO4C1 ENST00000310954 human ensembl 69_37n -1 known missense c.2132 p.V711A 0.227 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 329 0 0.00 52 26 33.33 - - - SLCO4C1 0 genome.wustl.edu 37 5 101572605 101572605 + Missense_Mutation SNP A A G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 101572605 101572605 A G SNP SLCO4C1 ENST00000310954 human ensembl 69_37n -1 known missense c.2132 p.V711A 0.227 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 463 0 0.00 52 26 33.33 - - - SLITRK6 0 genome.wustl.edu 37 13 86368270 86368270 + Nonsense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 13 86368270 86368270 C A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known nonsense c.2374 p.G792* 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 184 0 0.00 89 70 44.03 - - - SLITRK6 0 genome.wustl.edu 37 13 86368270 86368270 + Nonsense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 13 86368270 86368270 C A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known nonsense c.2374 p.G792* 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 282 0 0.00 89 70 44.03 - - - SMARCA4 0 genome.wustl.edu 37 19 11170528 11170528 + Nonsense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 11170528 11170528 G T SNP SMARCA4 ENST00000358026 human ensembl 69_37n +1 known nonsense c.4831 p.E1611* 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 8 0 0.00 62 50 44.64 - - - SMG1 0 genome.wustl.edu 37 16 18869547 18869547 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 18869547 18869547 C A SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.4179 p.W1393C 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 298 0 0.00 82 31 27.43 - - - SMG1 0 genome.wustl.edu 37 16 18869547 18869547 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 18869547 18869547 C A SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.4179 p.W1393C 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 427 0 0.00 82 31 27.43 - - - SP4 0 genome.wustl.edu 37 7 21550872 21550872 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 21550872 21550872 C T SNP SP4 ENST00000222584 human ensembl 69_37n +1 known silent c.2340 p.N780 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 33 0 0.00 68 20 22.73 - - - SP4 0 genome.wustl.edu 37 7 21550872 21550872 + Silent SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 21550872 21550872 C T SNP SP4 ENST00000222584 human ensembl 69_37n +1 known silent c.2340 p.N780 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 53 0 0.00 68 20 22.73 - - - SPECC1L 0 genome.wustl.edu 37 22 24717313 24717313 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 24717313 24717313 C T SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known missense c.365 p.T122I 0.970 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 65 0 0.00 63 20 24.10 - - - SPECC1L 0 genome.wustl.edu 37 22 24717313 24717313 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 24717313 24717313 C T SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known missense c.365 p.T122I 0.970 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 90 0 0.00 63 20 24.10 - - - STAT3 0 genome.wustl.edu 37 17 40468877 40468877 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 40468877 40468877 G A SNP STAT3 ENST00000264657 human ensembl 69_37n -1 known silent c.2187 p.R729 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 23 0 0.00 54 24 30.77 - - - STAT3 0 genome.wustl.edu 37 17 40468877 40468877 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 17 40468877 40468877 G A SNP STAT3 ENST00000264657 human ensembl 69_37n -1 known silent c.2187 p.R729 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 36 0 0.00 54 24 30.77 - - - SYK 0 genome.wustl.edu 37 9 93607735 93607735 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 9 93607735 93607735 C G SNP SYK ENST00000375746 human ensembl 69_37n +1 known missense c.437 p.A146G 1.000 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 39 0 0.00 55 12 17.91 - - - SYK 0 genome.wustl.edu 37 9 93607735 93607735 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 9 93607735 93607735 C G SNP SYK ENST00000375746 human ensembl 69_37n +1 known missense c.437 p.A146G 1.000 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 55 0 0.00 55 12 17.91 - - - TARS 0 genome.wustl.edu 37 5 33456148 33456148 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 33456148 33456148 T C SNP TARS ENST00000265112 human ensembl 69_37n +1 known silent c.735 p.N245 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 265 0 0.00 96 15 13.51 - - - TARS 0 genome.wustl.edu 37 5 33456148 33456148 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 5 33456148 33456148 T C SNP TARS ENST00000265112 human ensembl 69_37n +1 known silent c.735 p.N245 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 365 0 0.00 96 15 13.51 - - - TAS2R16 0 genome.wustl.edu 37 7 122635007 122635007 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 122635007 122635007 A C SNP TAS2R16 ENST00000249284 human ensembl 69_37n -1 known missense c.682 p.S228A 0.044 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 68 0 0.00 47 39 45.35 - - - TAS2R16 0 genome.wustl.edu 37 7 122635007 122635007 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 122635007 122635007 A C SNP TAS2R16 ENST00000249284 human ensembl 69_37n -1 known missense c.682 p.S228A 0.044 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 92 0 0.00 47 39 45.35 - - - TCF12 0 genome.wustl.edu 37 15 57545524 57545524 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 15 57545524 57545524 C A SNP TCF12 ENST00000438423 human ensembl 69_37n +1 known missense c.1325 p.A442D 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF12 HGNC ENSG00000140262 34 0 0.00 47 22 31.88 - - - TCF12 0 genome.wustl.edu 37 15 57545524 57545524 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 15 57545524 57545524 C A SNP TCF12 ENST00000438423 human ensembl 69_37n +1 known missense c.1325 p.A442D 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF12 HGNC ENSG00000140262 52 0 0.00 47 22 31.88 - - - TCHH 0 genome.wustl.edu 37 1 152083921 152083921 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 152083921 152083921 T C SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.1772 p.K591R 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 16 0 0.00 54 16 22.54 - - - TCHH 0 genome.wustl.edu 37 1 152083921 152083921 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 152083921 152083921 T C SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.1772 p.K591R 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 26 0 0.00 54 16 22.54 - - - TCIRG1 0 genome.wustl.edu 37 11 67818248 67818248 + Missense_Mutation SNP A A C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 67818248 67818248 A C SNP TCIRG1 ENST00000265686 human ensembl 69_37n +1 known missense c.2455 p.K819Q 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors TCIRG1 HGNC ENSG00000110719 15 0 0.00 81 38 31.93 - - - TDRKH 0 genome.wustl.edu 37 1 151747553 151747553 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 151747553 151747553 C G SNP TDRKH ENST00000368822 human ensembl 69_37n -1 known missense c.1524 p.M508I 0.002 NULL pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 135 0 0.00 120 31 20.53 - - - TDRKH 0 genome.wustl.edu 37 1 151747553 151747553 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 151747553 151747553 C G SNP TDRKH ENST00000368822 human ensembl 69_37n -1 known missense c.1524 p.M508I 0.002 NULL pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 195 0 0.00 120 31 20.53 - - - TECPR2 0 genome.wustl.edu 37 14 102901119 102901119 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 102901119 102901119 C G SNP TECPR2 ENST00000359520 human ensembl 69_37n +1 known missense c.1965 p.S655R 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 11 0 0.00 60 24 28.57 - - - TECPR2 0 genome.wustl.edu 37 14 102901119 102901119 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 14 102901119 102901119 C G SNP TECPR2 ENST00000359520 human ensembl 69_37n +1 known missense c.1965 p.S655R 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 22 0 0.00 60 24 28.57 - - - TET1 0 genome.wustl.edu 37 10 70332118 70332118 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 70332118 70332118 G A SNP TET1 ENST00000373644 human ensembl 69_37n +1 known missense c.23 p.R8K 0.980 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 34 0 0.00 16 22 57.89 - - - TET1 0 genome.wustl.edu 37 10 70332118 70332118 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 70332118 70332118 G A SNP TET1 ENST00000373644 human ensembl 69_37n +1 known missense c.23 p.R8K 0.980 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 56 0 0.00 16 22 57.89 - - - TIGIT 0 genome.wustl.edu 37 3 114018446 114018446 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 114018446 114018446 G C SNP TIGIT ENST00000383671 human ensembl 69_37n +1 known missense c.394 p.A132P 0.617 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC ENSG00000181847 19 0 0.00 39 15 27.78 - - - TIGIT 0 genome.wustl.edu 37 3 114018446 114018446 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 114018446 114018446 G C SNP TIGIT ENST00000383671 human ensembl 69_37n +1 known missense c.394 p.A132P 0.617 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC ENSG00000181847 8 0 0.00 39 15 27.78 - - - TMEM39A 0 genome.wustl.edu 37 3 119150930 119150930 + Silent SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 119150930 119150930 G C SNP TMEM39A ENST00000319172 human ensembl 69_37n -1 known silent c.1365 p.L455 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 51 0 0.00 42 16 27.59 - - - TRABD 0 genome.wustl.edu 37 22 50632861 50632861 + Missense_Mutation SNP G G T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 22 50632861 50632861 G T SNP TRABD ENST00000303434 human ensembl 69_37n +1 known missense c.205 p.A69S 0.994 NULL pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 12 0 0.00 102 29 21.97 - - - TSPAN18 0 genome.wustl.edu 37 11 44948291 44948292 + Frame_Shift_Del DEL GG GG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 44948291 44948292 GG - DEL TSPAN18 ENST00000340160 human ensembl 69_37n +1 known frame_shift_del c.682_683 p.V229fs 1.000:1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN18 HGNC ENSG00000157570 18 0 0.00 111 27 19.57 - - - TSPAN18 0 genome.wustl.edu 37 11 44948291 44948292 + Frame_Shift_Del DEL GG GG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 11 44948291 44948292 GG - DEL TSPAN18 ENST00000340160 human ensembl 69_37n +1 known frame_shift_del c.682_683 p.V229fs 1.000:1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN18 HGNC ENSG00000157570 27 0 0.00 111 27 19.57 - - - TTC3 0 genome.wustl.edu 37 21 38567987 38567987 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 38567987 38567987 G C SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.5229 p.E1743D 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 11 0 0.00 57 24 29.63 - - - TTC3 0 genome.wustl.edu 37 21 38567987 38567987 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 38567987 38567987 G C SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.5229 p.E1743D 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 14 0 0.00 57 24 29.63 - - - TTN 0 genome.wustl.edu 37 2 179398516 179398516 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 179398516 179398516 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.95122 p.R31708W 1.000 pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 149 0 0.00 52 12 18.75 - - - TTN 0 genome.wustl.edu 37 2 179398516 179398516 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 179398516 179398516 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.95122 p.R31708W 1.000 pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 93 0 0.00 52 12 18.75 - - - TTN 0 genome.wustl.edu 37 2 179437368 179437368 + Nonsense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 179437368 179437368 A T SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.65787 p.Y21929* 0.996 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 28 0 0.00 50 22 30.56 - - - TTN 0 genome.wustl.edu 37 2 179437368 179437368 + Nonsense_Mutation SNP A A T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 179437368 179437368 A T SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.65787 p.Y21929* 0.996 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 47 0 0.00 50 22 30.56 - - - TTN 0 genome.wustl.edu 37 2 179441108 179441113 + In_Frame_Del DEL CAGTGA CAGTGA - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CAGTGA CAGTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 179441108 179441113 CAGTGA - DEL TTN ENST00000342992 human ensembl 69_37n -1 known in_frame_del c.62047_62042 p.VT20681in_frame_del 1.000:0.504:0.999:1.000:1.000:1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 38 0 0.00 76 15 16.30 - - - TTN 0 genome.wustl.edu 37 2 179441108 179441113 + In_Frame_Del DEL CAGTGA CAGTGA - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 CAGTGA CAGTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 2 179441108 179441113 CAGTGA - DEL TTN ENST00000342992 human ensembl 69_37n -1 known in_frame_del c.62047_62042 p.VT20681in_frame_del 1.000:0.504:0.999:1.000:1.000:1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 63 0 0.00 76 15 16.30 - - - UBE2E1 0 genome.wustl.edu 37 3 23932006 23932006 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 23932006 23932006 C G SNP UBE2E1 ENST00000306627 human ensembl 69_37n +1 known missense c.491 p.P164R 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E1 HGNC ENSG00000170142 102 0 0.00 65 22 25.29 - - - UBE2E1 0 genome.wustl.edu 37 3 23932006 23932006 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 23932006 23932006 C G SNP UBE2E1 ENST00000306627 human ensembl 69_37n +1 known missense c.491 p.P164R 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E1 HGNC ENSG00000170142 69 0 0.00 65 22 25.29 - - - UBR4 0 genome.wustl.edu 37 1 19464664 19464664 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 19464664 19464664 T G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8743 p.S2915R 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 26 0 0.00 29 25 46.30 - - - UBR4 0 genome.wustl.edu 37 1 19464664 19464664 + Missense_Mutation SNP T T G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 19464664 19464664 T G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8743 p.S2915R 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 32 0 0.00 29 25 46.30 - - - UBR5 0 genome.wustl.edu 37 8 103299695 103299695 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 103299695 103299695 G A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known silent c.4923 p.S1641 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 55 0 0.00 176 40 18.52 - - - UBR5 0 genome.wustl.edu 37 8 103299695 103299695 + Silent SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 103299695 103299695 G A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known silent c.4923 p.S1641 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 81 0 0.00 176 40 18.52 - - - UCHL5 0 genome.wustl.edu 37 1 192998533 192998533 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 192998533 192998533 T C SNP UCHL5 ENST00000367451 human ensembl 69_37n -1 known missense c.419 p.H140R 1.000 pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37 pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37,prints_Peptidase_C12 - no_errors UCHL5 HGNC ENSG00000116750 256 0 0.00 186 29 13.49 - - - UCHL5 0 genome.wustl.edu 37 1 192998533 192998533 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 1 192998533 192998533 T C SNP UCHL5 ENST00000367451 human ensembl 69_37n -1 known missense c.419 p.H140R 1.000 pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37 pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37,prints_Peptidase_C12 - no_errors UCHL5 HGNC ENSG00000116750 364 0 0.00 186 29 13.49 - - - UGT2B15 0 genome.wustl.edu 37 4 69519794 69519794 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 69519794 69519794 T C SNP UGT2B15 ENST00000338206 human ensembl 69_37n -1 known missense c.1274 p.D425G 0.980 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 103 0 0.00 77 30 28.04 - - - UGT2B15 0 genome.wustl.edu 37 4 69519794 69519794 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 69519794 69519794 T C SNP UGT2B15 ENST00000338206 human ensembl 69_37n -1 known missense c.1274 p.D425G 0.980 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 72 0 0.00 77 30 28.04 - - - UNC5D 0 genome.wustl.edu 37 8 35541224 35541224 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 35541224 35541224 T A SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.730 p.S244T 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 36 0 0.00 76 25 24.75 - - - UNC5D 0 genome.wustl.edu 37 8 35541224 35541224 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 8 35541224 35541224 T A SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.730 p.S244T 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 51 0 0.00 76 25 24.75 - - - USP25 0 genome.wustl.edu 37 21 17205712 17205712 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 17205712 17205712 C A SNP USP25 ENST00000400183 human ensembl 69_37n +1 known missense c.2039 p.T680K 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC ENSG00000155313 113 0 0.00 27 10 27.03 - - - USP25 0 genome.wustl.edu 37 21 17205712 17205712 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 21 17205712 17205712 C A SNP USP25 ENST00000400183 human ensembl 69_37n +1 known missense c.2039 p.T680K 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC ENSG00000155313 74 0 0.00 27 10 27.03 - - - WDR11 0 genome.wustl.edu 37 10 122646224 122646234 + Frame_Shift_Del DEL AATCTGAACTT AATCTGAACTT - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 AATCTGAACTT AATCTGAACTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 122646224 122646234 AATCTGAACTT - DEL WDR11 ENST00000263461 human ensembl 69_37n +1 known frame_shift_del c.1997_2007 p.L669fs 1.000:1.000:1.000:1.000:0.751:1.000:1.000:1.000:1.000:1.000:0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 46 0 0.00 30 13 30.23 - - - WDR11 0 genome.wustl.edu 37 10 122646224 122646234 + Frame_Shift_Del DEL AATCTGAACTT AATCTGAACTT - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 AATCTGAACTT AATCTGAACTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 122646224 122646234 AATCTGAACTT - DEL WDR11 ENST00000263461 human ensembl 69_37n +1 known frame_shift_del c.1997_2007 p.L669fs 1.000:1.000:1.000:1.000:0.751:1.000:1.000:1.000:1.000:1.000:0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 64 0 0.00 30 13 30.23 - - - XIRP1 0 genome.wustl.edu 37 3 39229254 39229254 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 3 39229254 39229254 C T SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.1683 p.M561I 0.792 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 11 0 0.00 43 14 24.56 - - - ZFP92 0 genome.wustl.edu 37 X 152686529 152686529 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 152686529 152686529 G A SNP ZFP92 ENST00000338647 human ensembl 69_37n +1 known missense c.694 p.G232S 0.022 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 ZFP92 HGNC ENSG00000189420 11 0 0.00 22 12 34.29 - - - ZFP92 0 genome.wustl.edu 37 X 152686529 152686529 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 152686529 152686529 G A SNP ZFP92 ENST00000338647 human ensembl 69_37n +1 known missense c.694 p.G232S 0.022 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 ZFP92 HGNC ENSG00000189420 8 0 0.00 22 12 34.29 - - - ZNF101 0 genome.wustl.edu 37 19 19790274 19790274 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 19790274 19790274 G A SNP ZNF101 ENST00000318110 human ensembl 69_37n +1 known missense c.476 p.R159H 0.935 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 ZNF101 HGNC ENSG00000181896 40 0 0.00 104 21 16.80 - - - ZNF101 0 genome.wustl.edu 37 19 19790274 19790274 + Missense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 19790274 19790274 G A SNP ZNF101 ENST00000318110 human ensembl 69_37n +1 known missense c.476 p.R159H 0.935 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 ZNF101 HGNC ENSG00000181896 51 0 0.00 104 21 16.80 - - - ZNF318 0 genome.wustl.edu 37 6 43323219 43323219 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 6 43323219 43323219 C T SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.1853 p.R618Q 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 15 0 0.00 71 24 25.26 - - - ZNF318 0 genome.wustl.edu 37 6 43323219 43323219 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 6 43323219 43323219 C T SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.1853 p.R618Q 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 27 0 0.00 71 24 25.26 - - - ZNF394 0 genome.wustl.edu 37 7 99097679 99097679 + Missense_Mutation SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 7 99097679 99097679 T C SNP ZNF394 ENST00000337673 human ensembl 69_37n -1 known missense c.38 p.D13G 0.012 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZNF394 HGNC ENSG00000160908 9 0 0.00 44 21 32.31 - - - ZNF434 0 genome.wustl.edu 37 16 3433091 3433091 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 3433091 3433091 G C SNP ZNF434 ENST00000396846 human ensembl 69_37n -1 known missense c.1855 p.Q619E 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 62 0 0.00 143 43 23.12 - - - ZNF434 0 genome.wustl.edu 37 16 3433091 3433091 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 3433091 3433091 G C SNP ZNF434 ENST00000396846 human ensembl 69_37n -1 known missense c.1855 p.Q619E 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 92 0 0.00 143 43 23.12 - - - ZNF438 0 genome.wustl.edu 37 10 31139084 31139084 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 31139084 31139084 G A SNP ZNF438 ENST00000361310 human ensembl 69_37n -1 known nonsense c.250 p.Q84* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 158 0 0.00 124 47 27.49 - - - ZNF438 0 genome.wustl.edu 37 10 31139084 31139084 + Nonsense_Mutation SNP G G A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 10 31139084 31139084 G A SNP ZNF438 ENST00000361310 human ensembl 69_37n -1 known nonsense c.250 p.Q84* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 96 0 0.00 124 47 27.49 - - - ZNF528 0 genome.wustl.edu 37 19 52918378 52918378 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 52918378 52918378 G C SNP ZNF528 ENST00000360465 human ensembl 69_37n +1 known missense c.273 p.E91D 0.021 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 ZNF528 HGNC ENSG00000167555 117 0 0.00 24 8 25.00 - - - ZNF528 0 genome.wustl.edu 37 19 52918378 52918378 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 52918378 52918378 G C SNP ZNF528 ENST00000360465 human ensembl 69_37n +1 known missense c.273 p.E91D 0.021 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 ZNF528 HGNC ENSG00000167555 74 0 0.00 24 8 25.00 - - - ZNF560 0 genome.wustl.edu 37 19 9578743 9578743 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 9578743 9578743 C A SNP ZNF560 ENST00000301480 human ensembl 69_37n -1 known missense c.880 p.G294C 0.048 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 ZNF560 HGNC ENSG00000198028 163 0 0.00 166 37 18.23 - - - ZNF560 0 genome.wustl.edu 37 19 9578743 9578743 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 9578743 9578743 C A SNP ZNF560 ENST00000301480 human ensembl 69_37n -1 known missense c.880 p.G294C 0.048 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 ZNF560 HGNC ENSG00000198028 248 0 0.00 166 37 18.23 - - - ZNF708 0 genome.wustl.edu 37 19 21477270 21477271 + Frame_Shift_Ins INS - - T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 21477270 21477271 - T INS ZNF708 ENST00000356929 human ensembl 69_37n -1 known frame_shift_ins c.498_497 p.N166fs 0.028:0.884 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 341 0 0.00 58 14 19.44 - - - ZNF708 0 genome.wustl.edu 37 19 21477270 21477271 + Frame_Shift_Ins INS - - T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 19 21477270 21477271 - T INS ZNF708 ENST00000356929 human ensembl 69_37n -1 known frame_shift_ins c.498_497 p.N166fs 0.028:0.884 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 452 0 0.00 58 14 19.44 - - - ZNF81 0 genome.wustl.edu 37 X 47774342 47774342 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 47774342 47774342 G C SNP ZNF81 ENST00000338637 human ensembl 69_37n +1 known missense c.297 p.K99N 0.112 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 ZNF81 HGNC ENSG00000197779 33 0 0.00 28 6 17.65 - - - ZNF81 0 genome.wustl.edu 37 X 47774342 47774342 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 X 47774342 47774342 G C SNP ZNF81 ENST00000338637 human ensembl 69_37n +1 known missense c.297 p.K99N 0.112 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 ZNF81 HGNC ENSG00000197779 52 0 0.00 28 6 17.65 - - - ZNF827 0 genome.wustl.edu 37 4 146791465 146791465 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 146791465 146791465 C T SNP ZNF827 ENST00000508784 human ensembl 69_37n -1 known missense c.1913 p.G638E 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 42 0 0.00 97 41 29.50 - - - ZNF827 0 genome.wustl.edu 37 4 146791465 146791465 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 4 146791465 146791465 C T SNP ZNF827 ENST00000508784 human ensembl 69_37n -1 known missense c.1913 p.G638E 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 55 0 0.00 97 41 29.50 - - - ZNRF1 0 genome.wustl.edu 37 16 75138732 75138732 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 75138732 75138732 C G SNP ZNRF1 ENST00000320619 human ensembl 69_37n +1 known missense c.724 p.L242V 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF1 HGNC ENSG00000186187 17 0 0.00 101 41 28.87 - - - ZNRF1 0 genome.wustl.edu 37 16 75138732 75138732 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 75138732 75138732 C G SNP ZNRF1 ENST00000320619 human ensembl 69_37n +1 known missense c.724 p.L242V 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF1 HGNC ENSG00000186187 26 0 0.00 101 41 28.87 - - - ZP2 0 genome.wustl.edu 37 16 21212763 21212763 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 21212763 21212763 C G SNP ZP2 ENST00000219593 human ensembl 69_37n -1 known missense c.1621 p.V541L 1.000 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP2 HGNC ENSG00000103310 110 0 0.00 130 54 29.35 - - - ZP2 0 genome.wustl.edu 37 16 21212763 21212763 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3c107ce4-a6ac-469b-b1c0-cd86674b5766 94629e5b-195d-495b-bfa5-e10c46930a47 16 21212763 21212763 C G SNP ZP2 ENST00000219593 human ensembl 69_37n -1 known missense c.1621 p.V541L 1.000 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP2 HGNC ENSG00000103310 80 0 0.00 130 54 29.35 - - -