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 A2ML1 0 genome.wustl.edu 37 12 8995942 8995942 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 8995942 8995942 C T SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known silent c.1461 p.I487 0.040 pfam_A2M_N_2 pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 73 0 0.00 48 14 22.58 - - - ABCB5 0 genome.wustl.edu 37 7 20793123 20793123 + Silent SNP T T C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 20793123 20793123 T C SNP ABCB5 ENST00000258738 human ensembl 69_37n +1 known silent c.2235 p.S745 0.995 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 106 0 0.00 49 32 39.51 - - - ABCB8 0 genome.wustl.edu 37 7 150731848 150731848 + Missense_Mutation SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 150731848 150731848 C A SNP ABCB8 ENST00000297504 human ensembl 69_37n +1 known missense c.748 p.Q250K 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 ABCB8 HGNC ENSG00000197150 205 0 0.00 55 26 32.10 - - - ACADSB 0 genome.wustl.edu 37 10 124802613 124802613 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 124802613 124802613 C T SNP ACADSB ENST00000358776 human ensembl 69_37n +1 known missense c.733 p.H245Y 0.998 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 170 0 0.00 159 29 15.43 - - - AHNAK2 0 genome.wustl.edu 37 14 105409722 105409722 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 105409722 105409722 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.12066 p.S4022 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 174 0 0.00 46 42 47.73 - - - AHNAK2 0 genome.wustl.edu 37 14 105420515 105420515 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 105420515 105420515 C T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.1273 p.E425K 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 69 0 0.00 30 12 28.57 - - - AKNA 0 genome.wustl.edu 37 9 117099531 117099531 + Missense_Mutation SNP T T G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 9 117099531 117099531 T G SNP AKNA ENST00000307564 human ensembl 69_37n -1 known missense c.4123 p.T1375P 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 124 0 0.00 33 6 14.29 - - - AMD1 0 genome.wustl.edu 37 6 111214197 111214197 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 6 111214197 111214197 G A SNP AMD1 ENST00000368885 human ensembl 69_37n +1 known missense c.793 p.D265N 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 97 0 0.00 75 24 24.24 - - - ANKRD18A 0 genome.wustl.edu 37 9 38575638 38575638 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 9 38575638 38575638 C T SNP ANKRD18A ENST00000399703 human ensembl 69_37n -1 known missense c.2799 p.M933I 0.004 pfam_DUF3496 pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 151 0 0.00 73 36 32.73 - - - AP4E1 0 genome.wustl.edu 37 15 51291329 51291329 + Nonsense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 15 51291329 51291329 C T SNP AP4E1 ENST00000261842 human ensembl 69_37n +1 known nonsense c.2965 p.Q989* 0.819 pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 161 0 0.00 126 34 21.12 - - - ARHGAP1 0 genome.wustl.edu 37 11 46702881 46702881 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 46702881 46702881 G A SNP ARHGAP1 ENST00000528837 human ensembl 69_37n -1 novel missense c.358 p.H120Y 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARHGAP1 HGNC ENSG00000175220 182 0 0.00 53 29 35.37 - - - ARHGAP44 0 genome.wustl.edu 37 17 12799747 12799747 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 12799747 12799747 G A SNP ARHGAP44 ENST00000379672 human ensembl 69_37n +1 known silent c.117 p.V39 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 114 0 0.00 26 6 18.75 - - - ARHGEF15 0 genome.wustl.edu 37 17 8215677 8215677 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 8215677 8215677 C T SNP ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known missense c.320 p.S107F 0.262 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 91 0 0.00 51 13 20.31 - - - ARID1A 0 genome.wustl.edu 37 1 27057874 27057874 + Nonsense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 27057874 27057874 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known nonsense c.1582 p.Q528* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 592 0 0.00 265 78 22.61 - - - ASCC2 0 genome.wustl.edu 37 22 30189366 30189366 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 22 30189366 30189366 G A SNP ASCC2 ENST00000307790 human ensembl 69_37n -1 known silent c.1902 p.D634 0.900 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 81 0 0.00 30 4 11.76 - - - ASH1L 0 genome.wustl.edu 37 1 155450397 155450397 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 155450397 155450397 G C SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.2264 p.S755C 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 73 0 0.00 54 22 28.95 - - - ASPM 0 genome.wustl.edu 37 1 197061060 197061060 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 197061060 197061060 C T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.9421 p.V3141I 0.000 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 95 0 0.00 97 11 10.19 - - - ATP8B5P 0 genome.wustl.edu 37 9 35450104 35450104 + RNA SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 9 35450104 35450104 G A SNP ATP8B5P ENST00000430846 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors ATP8B5P HGNC ENSG00000179766 246 0 0.00 91 32 26.02 - - - B3GNT4 0 genome.wustl.edu 37 12 122691843 122691843 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 122691843 122691843 C T SNP B3GNT4 ENST00000324189 human ensembl 69_37n +1 known missense c.1045 p.H349Y 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 100 0 0.00 35 12 25.53 - - - BRCA1 0 genome.wustl.edu 37 17 41243518 41243518 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 41243518 41243518 C G SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known missense c.4030 p.D1344H 0.918 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 238 0 0.00 94 39 29.32 - - - BRCA2 0 genome.wustl.edu 37 13 32971062 32971062 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 13 32971062 32971062 G C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.9529 p.E3177Q 0.998 pfam_BRCA2_OB_3,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 119 0 0.00 45 21 31.82 - - - BTBD11 0 genome.wustl.edu 37 12 108008853 108008853 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 108008853 108008853 C T SNP BTBD11 ENST00000280758 human ensembl 69_37n +1 known missense c.1915 p.H639Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 290 0 0.00 147 50 25.38 - - - C1orf114 0 genome.wustl.edu 37 1 169390881 169390881 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 169390881 169390881 G T SNP C1orf114 ENST00000367806 human ensembl 69_37n -1 known missense c.788 p.S263Y 0.008 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 188 0 0.00 111 40 26.49 - - - CACNA1E 0 genome.wustl.edu 37 1 181680184 181680184 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 181680184 181680184 C T SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.1150 p.R384C 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 60 0 0.00 22 12 34.29 - - - CACNA1F 0 genome.wustl.edu 37 X 49083480 49083480 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 X 49083480 49083480 G C SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.1228 p.Q410E 0.985 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 125 0 0.00 39 17 30.36 - - - CASK 0 genome.wustl.edu 37 X 41646461 41646461 + Nonsense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 X 41646461 41646461 G C SNP CASK ENST00000378163 human ensembl 69_37n -1 known nonsense c.248 p.S83* 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 283 0 0.00 169 76 30.89 - - - CDC123 0 genome.wustl.edu 37 10 12291674 12291674 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 12291674 12291674 C T SNP CDC123 ENST00000281141 human ensembl 69_37n +1 known missense c.941 p.S314F 1.000 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 145 0 0.00 87 38 30.40 - - - CHD7 0 genome.wustl.edu 37 8 61693766 61693766 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 61693766 61693766 G C SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.1873 p.D625H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 66 0 0.00 93 17 15.45 - - - CLK1 0 genome.wustl.edu 37 2 201722462 201722462 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 2 201722462 201722462 G C SNP CLK1 ENST00000321356 human ensembl 69_37n -1 known missense c.811 p.Q271E 1.000 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 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 - no_errors CLK1 HGNC ENSG00000013441 69 0 0.00 56 20 25.97 - - - CMIP 0 genome.wustl.edu 37 16 81739122 81739122 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 81739122 81739122 C T SNP CMIP ENST00000537098 human ensembl 69_37n +1 known missense c.2110 p.R704W 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 158 0 0.00 57 18 24.00 - - - COL20A1 0 genome.wustl.edu 37 20 61936827 61936827 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 20 61936827 61936827 C T SNP COL20A1 ENST00000326996 human ensembl 69_37n +1 known silent c.252 p.G84 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 COL20A1 HGNC ENSG00000101203 78 0 0.00 24 49 65.33 - - - CSDE1 0 genome.wustl.edu 37 1 115276687 115276687 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 115276687 115276687 G A SNP CSDE1 ENST00000369530 human ensembl 69_37n -1 known missense c.679 p.H227Y 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 97 0 0.00 67 18 21.18 - - - CSTL1 0 genome.wustl.edu 37 20 23424675 23424675 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 20 23424675 23424675 G A SNP CSTL1 ENST00000246020 human ensembl 69_37n +1 known silent c.324 p.L108 0.101 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CSTL1 HGNC ENSG00000125823 136 0 0.00 79 25 24.04 - - - CTCF 0 genome.wustl.edu 37 16 67655431 67655431 + Nonsense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 67655431 67655431 G T SNP CTCF ENST00000264010 human ensembl 69_37n +1 known nonsense c.1294 p.E432* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 203 0 0.00 104 47 31.13 - - - DBH 0 genome.wustl.edu 37 9 136516800 136516800 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 9 136516800 136516800 C G SNP DBH ENST00000393056 human ensembl 69_37n +1 known missense c.1236 p.H412Q 1.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 106 0 0.00 34 4 10.53 - - - DDI1 0 genome.wustl.edu 37 11 103908037 103908037 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 103908037 103908037 C T SNP DDI1 ENST00000302259 human ensembl 69_37n +1 known missense c.487 p.R163C 1.000 NULL pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 39 0 0.00 9 9 50.00 - - - DEPDC5 0 genome.wustl.edu 37 22 32272223 32272223 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 22 32272223 32272223 G T SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.3711 p.K1237N 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 77 0 0.00 39 11 22.00 - - - DET1 0 genome.wustl.edu 37 15 89056368 89056368 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 15 89056368 89056368 G C SNP DET1 ENST00000444300 human ensembl 69_37n -1 known missense c.1500 p.F500L 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 45 0 0.00 23 10 30.30 - - - DNAJC13 0 genome.wustl.edu 37 3 132231857 132231857 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 132231857 132231857 G C SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known missense c.5299 p.E1767Q 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 338 0 0.00 259 57 17.98 - - - DNAJC2 0 genome.wustl.edu 37 7 102982252 102982252 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 102982252 102982252 C G SNP DNAJC2 ENST00000379263 human ensembl 69_37n -1 known missense c.214 p.E72Q 1.000 superfamily_DnaJ_N pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC2 HGNC ENSG00000105821 133 0 0.00 73 31 29.52 - - - DNTTIP1 0 genome.wustl.edu 37 20 44429770 44429770 + Missense_Mutation SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 20 44429770 44429770 C A SNP DNTTIP1 ENST00000372622 human ensembl 69_37n +1 known missense c.430 p.P144T 1.000 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 138 0 0.00 158 23 12.71 - - - DYDC1 0 genome.wustl.edu 37 10 82111696 82111696 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 82111696 82111696 C T SNP DYDC1 ENST00000421924 human ensembl 69_37n -1 known missense c.210 p.M70I 0.729 NULL pfam_Dpy-30_motif - no_errors DYDC1 HGNC ENSG00000170788 264 0 0.00 195 67 25.48 - - - DYNC1H1 0 genome.wustl.edu 37 14 102496269 102496269 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 102496269 102496269 G C SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.9756 p.K3252N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 163 0 0.00 112 27 19.42 - - - EGFLAM 0 genome.wustl.edu 37 5 38407978 38407978 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 5 38407978 38407978 C G SNP EGFLAM ENST00000354891 human ensembl 69_37n +1 known missense c.1219 p.Q407E 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 336 0 0.00 273 68 19.88 - - - ELL 0 genome.wustl.edu 37 19 18561569 18561569 + Missense_Mutation SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 18561569 18561569 C A SNP ELL ENST00000262809 human ensembl 69_37n -1 known missense c.1183 p.D395Y 0.998 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 14 0 0.00 4 4 50.00 - - - ERBB3 0 genome.wustl.edu 37 12 56478826 56478826 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 56478826 56478826 C G SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.282 p.F94L 0.771 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 122 0 0.00 53 30 36.14 - - - EYS 0 genome.wustl.edu 37 6 65300723 65300723 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 6 65300723 65300723 C T SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.5037 p.M1679I 0.000 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 91 0 0.00 64 19 22.89 - - - FAM118B 0 genome.wustl.edu 37 11 126120562 126120562 + Silent SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 126120562 126120562 C G SNP FAM118B ENST00000533050 human ensembl 69_37n +1 known silent c.501 p.L167 1.000 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 153 0 0.00 141 30 17.54 - - - FAM160A1 0 genome.wustl.edu 37 4 152499180 152499180 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 4 152499180 152499180 G A SNP FAM160A1 ENST00000435205 human ensembl 69_37n +1 known silent c.684 p.E228 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 230 0 0.00 93 25 21.19 - - - FAM49A 0 genome.wustl.edu 37 2 16740779 16740779 + Silent SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 2 16740779 16740779 G C SNP FAM49A ENST00000355549 human ensembl 69_37n -1 known silent c.786 p.L262 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 150 0 0.00 69 26 27.37 - - - FAS 0 genome.wustl.edu 37 10 90773881 90773881 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 90773881 90773881 G A SNP FAS ENST00000355740 human ensembl 69_37n +1 known missense c.682 p.D228N 0.950 superfamily_DEATH-like,smart_Death,prints_Fas_rcpt pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_Fas_rcpt,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors FAS HGNC ENSG00000026103 59 0 0.00 39 36 48.00 - - - FGR 0 genome.wustl.edu 37 1 27939603 27939603 + Missense_Mutation SNP A A C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 27939603 27939603 A C SNP FGR ENST00000374003 human ensembl 69_37n -1 known missense c.1412 p.V471G 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_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 86 0 0.00 38 5 11.11 - - - FOXO4 0 genome.wustl.edu 37 X 70321046 70321046 + Missense_Mutation SNP T T G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 X 70321046 70321046 T G SNP FOXO4 ENST00000374259 human ensembl 69_37n +1 known missense c.966 p.S322R 0.402 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 42 0 0.00 12 7 36.84 - - - GABRR3 0 genome.wustl.edu 37 3 97731406 97731406 + Silent SNP A A G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 97731406 97731406 A G SNP GABRR3 ENST00000472788 human ensembl 69_37n -1 known silent c.312 p.F104 1.000 NULL NULL - pseudogene GABRR3 HGNC ENSG00000183185 118 0 0.00 70 36 33.96 - - - GCN1L1 0 genome.wustl.edu 37 12 120582590 120582590 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 120582590 120582590 C T SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known silent c.5205 p.L1735 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 216 0 0.00 94 18 15.93 - - - GGT3P 0 genome.wustl.edu 37 22 18769678 18769678 + RNA SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 22 18769678 18769678 G A SNP GGT3P ENST00000412448 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GGT3P HGNC ENSG00000197421 92 0 0.00 26 3 10.34 - - - GK2 0 genome.wustl.edu 37 4 80329028 80329028 + Nonsense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 4 80329028 80329028 G T SNP GK2 ENST00000358842 human ensembl 69_37n -1 known nonsense c.327 p.Y109* 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 218 0 0.00 102 34 25.00 - - - GLT8D2 0 genome.wustl.edu 37 12 104388153 104388153 + Missense_Mutation SNP T T A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 104388153 104388153 T A SNP GLT8D2 ENST00000360814 human ensembl 69_37n -1 known missense c.727 p.I243F 0.996 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 191 0 0.00 76 40 34.48 - - - GLYR1 0 genome.wustl.edu 37 16 4861729 4861729 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 4861729 4861729 C T SNP GLYR1 ENST00000321919 human ensembl 69_37n -1 known missense c.1357 p.E453K 1.000 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 146 0 0.00 44 6 12.00 - - - GPC2 0 genome.wustl.edu 37 7 99773245 99773245 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 99773245 99773245 C T SNP GPC2 ENST00000292377 human ensembl 69_37n -1 known missense c.598 p.D200N 0.998 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 71 0 0.00 15 7 31.82 - - - HTATSF1 0 genome.wustl.edu 37 X 135593306 135593306 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 X 135593306 135593306 G A SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.1402 p.E468K 0.767 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 24 0 0.00 23 6 20.69 - - - IQGAP3 0 genome.wustl.edu 37 1 156530801 156530801 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 156530801 156530801 C T SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.1054 p.V352M 0.892 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 147 0 0.00 41 15 26.79 - - - KL 0 genome.wustl.edu 37 13 33635518 33635518 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 13 33635518 33635518 G A SNP KL ENST00000380099 human ensembl 69_37n +1 known missense c.2302 p.G768R 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 166 0 0.00 70 29 29.00 - - - KRT1 0 genome.wustl.edu 37 12 53071193 53071193 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 53071193 53071193 G A SNP KRT1 ENST00000252244 human ensembl 69_37n -1 known silent c.1035 p.L345 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 234 0 0.00 98 48 32.88 - - - LGI1 0 genome.wustl.edu 37 10 95518519 95518519 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 95518519 95518519 C G SNP LGI1 ENST00000371418 human ensembl 69_37n +1 known missense c.218 p.S73C 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 87 0 0.00 133 30 18.29 - - - LRGUK 0 genome.wustl.edu 37 7 133886232 133886232 + Splice_Site SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 133886232 133886232 G A SNP LRGUK ENST00000285928 human ensembl 69_37n +1 known splice_site c.1748-1 e15-1 1.000 - - - no_errors LRGUK HGNC ENSG00000155530 145 0 0.00 69 38 35.51 - - - MACF1 0 genome.wustl.edu 37 1 39751334 39751334 + Missense_Mutation SNP A A T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 39751334 39751334 A T SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.1427 p.Y476F 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 141 0 0.00 54 30 35.71 - - - MAGI2 0 genome.wustl.edu 37 7 77789588 77789588 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 77789588 77789588 C T SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known missense c.2599 p.E867K 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 116 0 0.00 43 15 25.86 - - - MAST2 0 genome.wustl.edu 37 1 46488611 46488611 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 46488611 46488611 C G SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.1453 p.P485A 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 221 0 0.00 104 38 26.76 - - - METTL10 0 genome.wustl.edu 37 10 126450881 126450881 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 126450881 126450881 G A SNP METTL10 ENST00000368836 human ensembl 69_37n -1 known missense c.863 p.S288L 0.000 NULL pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC ENSG00000203791 32 0 0.00 37 20 35.09 - - - MICAL2 0 genome.wustl.edu 37 11 12241781 12241781 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 12241781 12241781 G C SNP MICAL2 ENST00000256194 human ensembl 69_37n +1 known missense c.982 p.E328Q 0.999 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL2 HGNC ENSG00000133816 219 0 0.00 92 20 17.86 - - - MSL2 0 genome.wustl.edu 37 3 135871199 135871199 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 135871199 135871199 G A SNP MSL2 ENST00000309993 human ensembl 69_37n -1 known missense c.524 p.S175F 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 132 0 0.00 78 16 17.02 - - - MUC17 0 genome.wustl.edu 37 7 100679922 100679922 + Nonsense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 100679922 100679922 C G SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known nonsense c.5225 p.S1742* 0.038 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 396 0 0.00 126 22 14.86 - - - MUC17 0 genome.wustl.edu 37 7 100681224 100681224 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 100681224 100681224 C G SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.6527 p.S2176C 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 289 0 0.00 102 36 26.09 - - - MUC5B 0 genome.wustl.edu 37 11 1269972 1269972 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 1269972 1269972 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.11871 p.I3957 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 645 0 0.00 234 68 22.52 - - - MXRA5 0 genome.wustl.edu 37 X 3239762 3239762 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 X 3239762 3239762 C T SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.3964 p.D1322N 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 316 0 0.00 168 113 40.07 - - - MYH3 0 genome.wustl.edu 37 17 10558307 10558307 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 10558307 10558307 G A SNP MYH3 ENST00000226209 human ensembl 69_37n -1 known silent c.75 p.I25 0.995 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH3 HGNC ENSG00000109063 220 0 0.00 95 27 22.13 - - - MYH7 0 genome.wustl.edu 37 14 23884421 23884421 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 23884421 23884421 C T SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.5342 p.R1781H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 192 0 0.00 99 20 16.81 - - - NDRG2 0 genome.wustl.edu 37 14 21486365 21486365 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 21486365 21486365 G C SNP NDRG2 ENST00000298687 human ensembl 69_37n -1 known missense c.895 p.Q299E 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG2 HGNC ENSG00000165795 80 0 0.00 41 18 30.51 - - - NEB 0 genome.wustl.edu 37 2 152350381 152350381 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 2 152350381 152350381 C G SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.24580 p.V8194L 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 158 0 0.00 84 46 35.38 - - - NLRP3 0 genome.wustl.edu 37 1 247587541 247587541 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 247587541 247587541 C G SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known missense c.796 p.L266V 0.913 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 50 0 0.00 32 8 20.00 - - - NOP9 0 genome.wustl.edu 37 14 24772295 24772295 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 24772295 24772295 G C SNP NOP9 ENST00000267425 human ensembl 69_37n +1 known missense c.1159 p.E387Q 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 98 0 0.00 42 23 35.38 - - - NSMCE4A 0 genome.wustl.edu 37 10 123720991 123720991 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 123720991 123720991 G T SNP NSMCE4A ENST00000369023 human ensembl 69_37n -1 known missense c.886 p.H296N 1.000 pfam_Nse4 pfam_Nse4 - no_errors NSMCE4A HGNC ENSG00000107672 49 0 0.00 56 10 15.15 - - - OR13C2 0 genome.wustl.edu 37 9 107367609 107367609 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 9 107367609 107367609 C G SNP OR13C2 ENST00000542196 human ensembl 69_37n -1 known missense c.300 p.Q100H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 364 0 0.00 123 42 25.45 - - - OR7E24 0 genome.wustl.edu 37 19 9362661 9362661 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 9362661 9362661 C T SNP OR7E24 ENST00000456448 human ensembl 69_37n +1 known silent c.942 p.D314 0.890 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 151 0 0.00 51 17 25.00 - - - OR7G3 0 genome.wustl.edu 37 19 9237482 9237482 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 9237482 9237482 C T SNP OR7G3 ENST00000305444 human ensembl 69_37n -1 known missense c.145 p.V49I 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7G3 HGNC ENSG00000170920 137 0 0.00 53 23 30.26 - - - OR8S1 0 genome.wustl.edu 37 12 48920158 48920158 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 48920158 48920158 G A SNP OR8S1 ENST00000310194 human ensembl 69_37n +1 known silent c.744 p.V248 0.937 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 189 0 0.00 75 29 27.62 - - - ORC1 0 genome.wustl.edu 37 1 52861727 52861727 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 52861727 52861727 C G SNP ORC1 ENST00000371566 human ensembl 69_37n -1 known missense c.712 p.E238Q 1.000 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 205 0 0.00 139 50 26.46 - - - OSBPL10 0 genome.wustl.edu 37 3 31712404 31712404 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 31712404 31712404 G C SNP OSBPL10 ENST00000396556 human ensembl 69_37n -1 known missense c.1798 p.L600V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 206 0 0.00 80 10 11.11 - - - PCDH18 0 genome.wustl.edu 37 4 138442365 138442365 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 4 138442365 138442365 G A SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known missense c.3226 p.H1076Y 0.984 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 68 0 0.00 29 8 21.62 - - - PCDH18 0 genome.wustl.edu 37 4 138452906 138452906 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 4 138452906 138452906 G A SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known silent c.337 p.L113 0.981 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 107 0 0.00 71 13 15.48 - - - PCDHB8 0 genome.wustl.edu 37 5 140559532 140559532 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 5 140559532 140559532 G C SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known missense c.1917 p.Q639H 0.980 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 11 0 0.00 4 4 50.00 - - - PDE4A 0 genome.wustl.edu 37 19 10568682 10568682 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 10568682 10568682 C T SNP PDE4A ENST00000352831 human ensembl 69_37n +1 known silent c.1005 p.I335 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 93 0 0.00 41 16 28.07 - - - PERP 0 genome.wustl.edu 37 6 138417551 138417551 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 6 138417551 138417551 G C SNP PERP ENST00000421351 human ensembl 69_37n -1 known missense c.295 p.L99V 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 105 0 0.00 62 13 17.33 - - - PHIP 0 genome.wustl.edu 37 6 79688311 79688311 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 6 79688311 79688311 C T SNP PHIP ENST00000275034 human ensembl 69_37n -1 known missense c.2887 p.E963K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 104 0 0.00 79 17 17.71 - - - PIGQ 0 genome.wustl.edu 37 16 633504 633504 + Nonsense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 633504 633504 C G SNP PIGQ ENST00000026218 human ensembl 69_37n +1 known nonsense c.2153 p.S718* 0.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 26 0 0.00 13 4 23.53 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 81 0 0.00 73 43 37.07 - - - PLA2G15 0 genome.wustl.edu 37 16 68283257 68283257 + Silent SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 68283257 68283257 C A SNP PLA2G15 ENST00000219345 human ensembl 69_37n +1 known silent c.192 p.L64 0.970 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 185 0 0.00 71 20 21.98 - - - PLSCR3 0 genome.wustl.edu 37 17 7296197 7296197 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 7296197 7296197 G C SNP PLSCR3 ENST00000324822 human ensembl 69_37n -1 known missense c.582 p.F194L 1.000 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR3 HGNC ENSG00000187838 301 0 0.00 44 36 45.00 - - - POLR1D 0 genome.wustl.edu 37 13 28197278 28197278 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 13 28197278 28197278 G C SNP POLR1D ENST00000302979 human ensembl 69_37n +1 known missense c.293 p.R98T 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like - no_errors POLR1D HGNC ENSG00000186184 96 0 0.00 47 12 20.34 - - - POM121L2 0 genome.wustl.edu 37 6 27278941 27278941 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 6 27278941 27278941 G T SNP POM121L2 ENST00000444565 human ensembl 69_37n -1 known missense c.1009 p.P337T 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 182 0 0.00 89 19 17.43 - - - PRDM10 0 genome.wustl.edu 37 11 129775573 129775573 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 129775573 129775573 G A SNP PRDM10 ENST00000358825 human ensembl 69_37n -1 known missense c.3239 p.A1080V 0.992 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 169 0 0.00 102 19 15.70 - - - PRPF8 0 genome.wustl.edu 37 17 1578489 1578489 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 1578489 1578489 G A SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.3017 p.A1006V 1.000 pfam_RRM_spliceosomal_PrP8 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 243 0 0.00 37 46 54.76 - - - PTK2B 0 genome.wustl.edu 37 8 27296585 27296585 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 27296585 27296585 G C SNP PTK2B ENST00000346049 human ensembl 69_37n +1 known missense c.1681 p.E561Q 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 PTK2B HGNC ENSG00000120899 204 0 0.00 136 19 12.26 - - - PTPN22 0 genome.wustl.edu 37 1 114397122 114397122 + Missense_Mutation SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 114397122 114397122 C A SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known missense c.721 p.D241Y 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 165 0 0.00 94 16 14.41 - - - PXDNL 0 genome.wustl.edu 37 8 52321106 52321106 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 52321106 52321106 G T SNP PXDNL ENST00000522933 human ensembl 69_37n -1 novel missense c.434 p.A145E 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_VWF_C,superfamily_Haem_peroxidase,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PXDNL HGNC ENSG00000147485 55 0 0.00 25 14 35.90 - - - RFX4 0 genome.wustl.edu 37 12 107083069 107083069 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 107083069 107083069 C G SNP RFX4 ENST00000357881 human ensembl 69_37n +1 known missense c.623 p.S208C 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 196 0 0.00 124 40 24.39 - - - ROBO4 0 genome.wustl.edu 37 11 124761564 124761564 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 124761564 124761564 G A SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known missense c.1682 p.S561F 0.991 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO4 HGNC ENSG00000154133 56 0 0.00 26 6 18.75 - - - ROPN1B 0 genome.wustl.edu 37 3 125701143 125701143 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 125701143 125701143 G A SNP ROPN1B ENST00000251776 human ensembl 69_37n +1 known missense c.427 p.E143K 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 209 0 0.00 115 26 18.44 - - - RYR3 0 genome.wustl.edu 37 15 33988430 33988430 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 15 33988430 33988430 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.5872 p.E1958K 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 88 0 0.00 17 10 37.04 - - - SARS 0 genome.wustl.edu 37 1 109779045 109779045 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 109779045 109779045 G T SNP SARS ENST00000369923 human ensembl 69_37n +1 known missense c.1132 p.D378Y 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa - no_errors SARS HGNC ENSG00000031698 76 0 0.00 65 18 21.69 - - - SDCCAG8 0 genome.wustl.edu 37 1 243579083 243579083 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 243579083 243579083 G A SNP SDCCAG8 ENST00000366541 human ensembl 69_37n +1 known missense c.1696 p.E566K 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 112 0 0.00 91 21 18.58 - - - SEC23A 0 genome.wustl.edu 37 14 39545233 39545233 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 39545233 39545233 G A SNP SEC23A ENST00000307712 human ensembl 69_37n -1 known missense c.893 p.P298L 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 169 0 0.00 95 28 22.76 - - - SEC24C 0 genome.wustl.edu 37 10 75525340 75525340 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 75525340 75525340 C G SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known missense c.1359 p.I453M 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 437 0 0.00 397 83 17.29 - - - SH3PXD2A 0 genome.wustl.edu 37 10 105377012 105377012 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 105377012 105377012 C G SNP SH3PXD2A ENST00000369774 human ensembl 69_37n -1 known missense c.862 p.E288Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 447 0 0.00 243 41 14.44 - - - SLC16A8 0 genome.wustl.edu 37 22 38474563 38474563 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 22 38474563 38474563 G A SNP SLC16A8 ENST00000320521 human ensembl 69_37n -1 known silent c.1347 p.G449 0.000 tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A8 HGNC ENSG00000100156 71 0 0.00 12 14 53.85 - - - SLC45A1 0 genome.wustl.edu 37 1 8395594 8395594 + Missense_Mutation SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 1 8395594 8395594 C A SNP SLC45A1 ENST00000377479 human ensembl 69_37n +1 known missense c.1643 p.S548Y 0.675 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 76 0 0.00 33 13 28.26 - - - SLIT2 0 genome.wustl.edu 37 4 20487849 20487849 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 4 20487849 20487849 G T SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known missense c.566 p.R189I 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 120 0 0.00 122 33 21.15 - - - SNX13 0 genome.wustl.edu 37 7 17980008 17980008 + RNA SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 17980008 17980008 C T SNP SNX13 ENST00000471744 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors SNX13 HGNC ENSG00000071189 35 0 0.00 18 8 30.77 - - - SPECC1L 0 genome.wustl.edu 37 22 24698308 24698308 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 22 24698308 24698308 G A SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known missense c.109 p.G37R 0.799 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 135 0 0.00 86 35 28.46 - - - SRPR 0 genome.wustl.edu 37 11 126133864 126133864 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 126133864 126133864 C T SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.1864 p.D622N 1.000 pfam_Signal_recog_part_SRP54_GTPase,smart_Signal_recog_part_SRP54_GTPase pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 159 0 0.00 85 11 11.34 - - - SSX3 0 genome.wustl.edu 37 X 48214153 48214153 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 X 48214153 48214153 G C SNP SSX3 ENST00000298396 human ensembl 69_37n -1 known missense c.98 p.S33C 0.025 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX3 HGNC ENSG00000165584 419 1 0.24 311 92 22.83 - - - ST18 0 genome.wustl.edu 37 8 53071507 53071507 + Missense_Mutation SNP C C A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 53071507 53071507 C A SNP ST18 ENST00000276480 human ensembl 69_37n -1 known missense c.1757 p.R586M 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 209 0 0.00 118 23 16.20 - - - STARD9 0 genome.wustl.edu 37 15 42977168 42977168 + Frame_Shift_Del DEL G G - TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 15 42977168 42977168 G - DEL STARD9 ENST00000290607 human ensembl 69_37n +1 known frame_shift_del c.3392 p.D1132fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 36 0 0.00 10 2 15.38 - - - STAT5B 0 genome.wustl.edu 37 17 40376887 40376887 + Splice_Site SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 40376887 40376887 C T SNP STAT5B ENST00000293328 human ensembl 69_37n -1 known splice_site c.286-1 e3-1 1.000 - - - no_errors STAT5B HGNC ENSG00000173757 190 0 0.00 45 21 31.82 - - - TBC1D24 0 genome.wustl.edu 37 16 2549400 2549400 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 2549400 2549400 C T SNP TBC1D24 ENST00000293970 human ensembl 69_37n +1 known silent c.1185 p.L395 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 104 0 0.00 24 14 36.84 - - - TBC1D5 0 genome.wustl.edu 37 3 17208372 17208372 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 17208372 17208372 C G SNP TBC1D5 ENST00000253692 human ensembl 69_37n -1 known missense c.1981 p.E661Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 136 0 0.00 104 37 26.24 - - - TEKT5 0 genome.wustl.edu 37 16 10783850 10783850 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 10783850 10783850 C T SNP TEKT5 ENST00000283025 human ensembl 69_37n -1 known silent c.597 p.K199 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 199 0 0.00 75 30 28.57 - - - THAP5 0 genome.wustl.edu 37 7 108205254 108205254 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 7 108205254 108205254 C G SNP THAP5 ENST00000415914 human ensembl 69_37n -1 known missense c.569 p.R190T 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 113 0 0.00 108 13 10.66 - - - TMCO3 0 genome.wustl.edu 37 13 114188508 114188508 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 13 114188508 114188508 G C SNP TMCO3 ENST00000434316 human ensembl 69_37n +1 known missense c.1492 p.E498Q 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 129 0 0.00 128 45 25.86 - - - TMED10 0 genome.wustl.edu 37 14 75601659 75601659 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 75601659 75601659 G C SNP TMED10 ENST00000303575 human ensembl 69_37n -1 known missense c.589 p.L197V 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 119 0 0.00 53 7 11.67 - - - TMEM131 0 genome.wustl.edu 37 2 98543924 98543924 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 2 98543924 98543924 C G SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known missense c.214 p.E72Q 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 71 0 0.00 90 27 23.08 - - - TNPO2 0 genome.wustl.edu 37 19 12830080 12830080 + Nonsense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 12830080 12830080 G C SNP TNPO2 ENST00000425528 human ensembl 69_37n -1 known nonsense c.170 p.S57* 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 346 0 0.00 131 47 26.26 - - - TP53 0 genome.wustl.edu 37 17 7579383 7579383 + Frame_Shift_Del DEL T T - TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 17 7579383 7579383 T - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.304 p.T102fs 0.262 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 57 0 0.00 12 4 25.00 - - - TPP2 0 genome.wustl.edu 37 13 103287966 103287966 + Missense_Mutation SNP G G T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 13 103287966 103287966 G T SNP TPP2 ENST00000376065 human ensembl 69_37n +1 known missense c.1423 p.V475F 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 179 0 0.00 108 26 19.40 - - - TRA2B 0 genome.wustl.edu 37 3 185639893 185639893 + Missense_Mutation SNP T T A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 3 185639893 185639893 T A SNP TRA2B ENST00000453386 human ensembl 69_37n -1 known missense c.544 p.M182L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 259 0 0.00 121 69 36.13 - - - TRPM2 0 genome.wustl.edu 37 21 45811190 45811190 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 21 45811190 45811190 C T SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.1476 p.L492 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 65 0 0.00 21 5 19.23 - - - TSEN34 0 genome.wustl.edu 37 19 54695795 54695795 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 54695795 54695795 C T SNP TSEN34 ENST00000429671 human ensembl 69_37n +1 known missense c.467 p.S156L 0.002 pirsf_tRNA_splic_SEN34 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 49 0 0.00 67 24 25.81 - - - TSTA3 0 genome.wustl.edu 37 8 144696346 144696346 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 144696346 144696346 G A SNP TSTA3 ENST00000425753 human ensembl 69_37n -1 known silent c.651 p.F217 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 72 0 0.00 24 8 25.00 - - - TTC28 0 genome.wustl.edu 37 22 28503882 28503882 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 22 28503882 28503882 G C SNP TTC28 ENST00000397906 human ensembl 69_37n -1 novel missense c.1951 p.Q651E 0.997 pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 89 0 0.00 52 16 23.53 - - - UBR3 0 genome.wustl.edu 37 2 170732316 170732316 + Nonsense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 2 170732316 170732316 C G SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known nonsense c.701 p.S234* 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 82 0 0.00 44 5 10.20 - - - UNC13A 0 genome.wustl.edu 37 19 17756583 17756583 + Silent SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 17756583 17756583 G A SNP UNC13A ENST00000428389 human ensembl 69_37n -1 known silent c.2520 p.R840 0.019 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 202 0 0.00 49 30 37.50 - - - VIM 0 genome.wustl.edu 37 10 17278368 17278368 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 10 17278368 17278368 G C SNP VIM ENST00000224237 human ensembl 69_37n +1 known missense c.1349 p.R450T 1.000 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 129 0 0.00 73 28 27.45 - - - VRK2 0 genome.wustl.edu 37 2 58350248 58350248 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 2 58350248 58350248 G C SNP VRK2 ENST00000340157 human ensembl 69_37n +1 known missense c.556 p.D186H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors VRK2 HGNC ENSG00000028116 157 0 0.00 89 29 24.58 - - - WSCD2 0 genome.wustl.edu 37 12 108620839 108620839 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 12 108620839 108620839 G A SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.877 p.D293N 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 90 0 0.00 27 8 22.86 - - - XPO7 0 genome.wustl.edu 37 8 21861537 21861537 + Missense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 21861537 21861537 G C SNP XPO7 ENST00000434536 human ensembl 69_37n +1 known missense c.3193 p.D1065H 1.000 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 110 0 0.00 92 30 24.59 - - - YLPM1 0 genome.wustl.edu 37 14 75265199 75265199 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 14 75265199 75265199 G A SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.3199 p.D1067N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 133 0 0.00 96 41 29.93 - - - ZBTB16 0 genome.wustl.edu 37 11 113934294 113934294 + Missense_Mutation SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 11 113934294 113934294 C T SNP ZBTB16 ENST00000335953 human ensembl 69_37n +1 known missense c.272 p.T91M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 62 0 0.00 18 8 30.77 - - - ZDHHC2 0 genome.wustl.edu 37 8 17067946 17067946 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 8 17067946 17067946 G A SNP ZDHHC2 ENST00000262096 human ensembl 69_37n +1 known missense c.907 p.E303K 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC2 HGNC ENSG00000104219 107 0 0.00 116 30 20.55 - - - ZFHX3 0 genome.wustl.edu 37 16 72827828 72827828 + Nonsense_Mutation SNP G G C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 72827828 72827828 G C SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known nonsense c.8753 p.S2918* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 87 0 0.00 38 19 33.33 - - - ZFHX3 0 genome.wustl.edu 37 16 72832052 72832052 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 16 72832052 72832052 G A SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.4529 p.S1510F 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 49 0 0.00 49 10 16.95 - - - ZNF560 0 genome.wustl.edu 37 19 9584909 9584909 + Silent SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 9584909 9584909 C G SNP ZNF560 ENST00000301480 human ensembl 69_37n -1 known silent c.123 p.V41 0.411 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 302 0 0.00 104 17 13.93 - - - ZNF609 0 genome.wustl.edu 37 15 64966802 64966802 + Silent SNP C C T TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 15 64966802 64966802 C T SNP ZNF609 ENST00000326648 human ensembl 69_37n +1 known silent c.1749 p.F583 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 64 0 0.00 38 16 29.09 - - - ZNF841 0 genome.wustl.edu 37 19 52580298 52580298 + Nonsense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 19 52580298 52580298 G A SNP ZNF841 ENST00000389534 human ensembl 69_37n -1 known nonsense c.55 p.Q19* 0.961 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 233 0 0.00 326 41 11.14 - - - ZRSR1 0 genome.wustl.edu 37 5 112228531 112228531 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 961fae8a-d944-4866-b198-ea6f1e59a979 7ccbb62c-9382-43ef-ba5f-3f81d0074e07 5 112228531 112228531 G A SNP ZRSR1 ENST00000391338 human ensembl 69_37n +1 known missense c.1195 p.E399K 0.009 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 72 0 0.00 51 14 21.21 - - -