Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AARD 0 genome.wustl.edu 37 8 117950643 117950643 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 117950643 117950643 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.161 p.P54L 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 tier1 - - 45 0 0.00 34 37 52.11 AARS2 0 genome.wustl.edu 37 6 44279946 44279946 + Nonsense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 44279946 44279946 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known nonsense c.298 p.R100* 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 - - 34 0 0.00 69 19 21.59 ACSF2 0 genome.wustl.edu 37 17 48541618 48541618 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 48541618 48541618 G A SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.1178 p.R393Q 0.996 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 tier1 - - 25 0 0.00 31 9 22.50 ADARB2-AS1 0 genome.wustl.edu 37 10 1577814 1577814 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 1577814 1577814 C T SNP ADARB2-AS1 ENST00000381301 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 tier1 - - 42 0 0.00 25 36 59.02 ADCY3 0 genome.wustl.edu 37 2 25061488 25061488 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 25061488 25061488 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known silent c.1359 p.R453 0.001 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 57 0 0.00 27 11 28.95 ADRM1 0 genome.wustl.edu 37 20 60878680 60878680 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 60878680 60878680 C T SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known missense c.56 p.S19F 1.000 NULL pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 tier1 - - 34 0 0.00 27 15 35.71 AHCY 0 genome.wustl.edu 37 20 32873245 32873245 + Splice_Site SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 32873245 32873245 C G SNP AHCY ENST00000217426 human ensembl 74_37 -1 known splice_site c.1167+1 e9+1 1.000 - - - no_errors AHCY HGNC ENSG00000101444 29 0 0.00 45 3 6.25 AHRR 0 genome.wustl.edu 37 5 428102 428102 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 428102 428102 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.955 p.A319T 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 34 0 0.00 35 2 5.41 ALS2CR11 0 genome.wustl.edu 37 2 202436683 202436683 + Nonsense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 202436683 202436683 C A SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known nonsense c.814 p.E272* 1.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 34 0 0.00 20 2 9.09 AMBRA1 0 genome.wustl.edu 37 11 46568813 46568813 + Frame_Shift_Del DEL A A - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 46568813 46568813 A - DEL AMBRA1 ENST00000458649 human ensembl 74_37 -1 known frame_shift_del c.228 p.N76fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 16 0 0.00 6 4 40.00 ANK3 0 genome.wustl.edu 37 10 61832462 61832462 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 61832462 61832462 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8177 p.T2726I 0.083 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 42 0 0.00 43 3 6.52 ANKRD44 0 genome.wustl.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 197943383 197943384 TG - DEL ANKRD44 ENST00000409153 human ensembl 74_37 -1 known frame_shift_del c.1694_1693 p.H565fs 0.001:0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 25 0 0.00 19 4 17.39 AP2B1 0 genome.wustl.edu 37 17 33953664 33953664 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 33953664 33953664 G A SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known silent c.741 p.R247 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 tier1 - - 41 0 0.00 59 4 6.35 AP3B1 0 genome.wustl.edu 37 5 77477332 77477332 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 77477332 77477332 G A SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.941 p.A314V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 27 0 0.00 23 2 8.00 APH1A 0 genome.wustl.edu 37 1 150238869 150238869 + RNA SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 150238869 150238869 G T SNP APH1A ENST00000461320 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors APH1A HGNC ENSG00000117362 tier1 - - 66 0 0.00 56 4 6.67 ARFGEF2 0 genome.wustl.edu 37 20 47635475 47635475 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 47635475 47635475 A G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.4564 p.R1522G 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 24 0 0.00 47 4 7.84 ATAD5 0 genome.wustl.edu 37 17 29196273 29196273 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 29196273 29196273 G T SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known silent c.3321 p.S1107 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 28 0 0.00 48 3 5.88 ATP10B 0 genome.wustl.edu 37 5 160059358 160059358 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 160059358 160059358 G T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.1398 p.T466 0.996 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 50 0 0.00 33 2 5.71 AZI1 0 genome.wustl.edu 37 17 79163621 79163621 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 79163621 79163621 T C SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.3200 p.H1067R 1.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 61 0 0.00 58 5 7.94 BAG6 0 genome.wustl.edu 37 6 31617094 31617094 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 31617094 31617094 G T SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.305 p.T102K 1.000 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 tier1 - - 49 0 0.00 25 4 13.79 BRCA2 0 genome.wustl.edu 37 13 32900736 32900736 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 32900736 32900736 C G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.617 p.S206C 0.997 pirsf_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,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 33 0 0.00 29 7 19.44 BRINP1 0 genome.wustl.edu 37 9 121929458 121929458 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 121929458 121929458 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.2190 p.L730 0.978 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 51 0 0.00 41 8 16.33 BSDC1 0 genome.wustl.edu 37 1 32846846 32846846 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 32846846 32846846 C T SNP BSDC1 ENST00000341071 human ensembl 74_37 -1 known silent c.432 p.S144 0.894 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 tier1 - - 29 0 0.00 18 12 40.00 BTN3A1 0 genome.wustl.edu 37 6 26408042 26408042 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 26408042 26408042 C T SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.577 p.P193S 0.000 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 tier1 - - 72 0 0.00 37 11 22.92 C12orf40 0 genome.wustl.edu 37 12 40077955 40077955 + Frame_Shift_Del DEL T T - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 40077955 40077955 T - DEL C12orf40 ENST00000398716 human ensembl 74_37 +1 known frame_shift_del c.1088 p.F364fs 0.166 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 44 0 0.00 28 2 6.67 C12orf56 0 genome.wustl.edu 37 12 64678469 64678469 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 64678469 64678469 G A SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known missense c.805 p.R269C 0.587 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 tier1 - - 25 0 0.00 17 4 19.05 C20orf141 0 genome.wustl.edu 37 20 2796202 2796202 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 2796202 2796202 G T SNP C20orf141 ENST00000380589 human ensembl 74_37 +1 known silent c.279 p.L93 0.004 NULL NULL - no_errors C20orf141 HGNC ENSG00000258713 19 0 0.00 24 4 14.29 C3 0 genome.wustl.edu 37 19 6702485 6702485 + Frame_Shift_Del DEL T T - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 6702485 6702485 T - DEL C3 ENST00000245907 human ensembl 74_37 -1 known frame_shift_del c.2351 p.N784fs 0.063 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 29 0 0.00 24 2 7.69 C5orf45 0 genome.wustl.edu 37 5 179267905 179267905 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 179267905 179267905 C T SNP C5orf45 ENST00000292586 human ensembl 74_37 -1 known silent c.504 p.S168 0.000 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 27 0 0.00 31 2 6.06 C6orf132 0 genome.wustl.edu 37 6 42073065 42073065 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 42073065 42073065 G A SNP C6orf132 ENST00000341865 human ensembl 74_37 -1 putative missense c.2585 p.S862F 0.830 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 24 0 0.00 56 7 11.11 C8B 0 genome.wustl.edu 37 1 57431590 57431590 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 57431590 57431590 G A SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.32 p.A11V 0.000 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 tier1 - - 32 0 0.00 16 6 27.27 CAAP1 0 genome.wustl.edu 37 9 26892443 26892443 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 26892443 26892443 C A SNP CAAP1 ENST00000333916 human ensembl 74_37 -1 known missense c.271 p.D91Y 0.993 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 19 0 0.00 11 4 26.67 CACNA1B 0 genome.wustl.edu 37 9 140772632 140772632 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 140772632 140772632 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.247 p.V83I 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 30 0 0.00 16 12 42.86 CACNA1I 0 genome.wustl.edu 37 22 40055037 40055037 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 22 40055037 40055037 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2264 p.R755Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 83 0 0.00 34 15 30.61 CACNA2D1 0 genome.wustl.edu 37 7 81579725 81579725 + Missense_Mutation SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 81579725 81579725 T G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.3295 p.T1099P 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 45 0 0.00 68 10 12.82 CACYBP 0 genome.wustl.edu 37 1 174979201 174979201 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 174979201 174979201 G T SNP CACYBP ENST00000367679 human ensembl 74_37 +1 known missense c.673 p.D225Y 1.000 pfscan_SGS pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS - no_errors CACYBP HGNC ENSG00000116161 41 0 0.00 32 2 5.88 CAMK1D 0 genome.wustl.edu 37 10 12867592 12867592 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 12867592 12867592 C T SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known silent c.942 p.A314 0.427 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1D HGNC ENSG00000183049 tier1 - - 22 0 0.00 28 7 20.00 CAPN14 0 genome.wustl.edu 37 2 31423364 31423364 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 31423364 31423364 C T SNP CAPN14 ENST00000444918 human ensembl 74_37 -1 known missense c.679 p.E227K 0.002 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN14 HGNC ENSG00000214711 tier1 - - 44 0 0.00 30 14 31.82 CBX8 0 genome.wustl.edu 37 17 77769002 77769002 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 77769002 77769002 G A SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.602 p.P201L 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 - - 50 0 0.00 34 14 29.17 CCDC146 0 genome.wustl.edu 37 7 76909903 76909903 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 76909903 76909903 A G SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.1852 p.M618V 0.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 33 0 0.00 35 4 10.26 CCER1 0 genome.wustl.edu 37 12 91348387 91348387 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 91348387 91348387 C G SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.133 p.A45P 0.011 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 tier1 - - 33 0 0.00 18 11 37.93 CCP110 0 genome.wustl.edu 37 16 19537184 19537185 + Splice_Site INS - - T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 19537184 19537185 - T INS CCP110 ENST00000396212 human ensembl 74_37 +1 known splice_site_ins c.1+1_2 e0+1 1.000:0.999 - - - no_errors CCP110 HGNC ENSG00000103540 tier1 35 0 0.00 43 7 14.00 CCT5 0 genome.wustl.edu 37 5 10262705 10262705 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 10262705 10262705 T C SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known missense c.1292 p.L431P 0.997 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 55 0 0.00 32 2 5.88 CCT8L2 0 genome.wustl.edu 37 22 17072732 17072732 + Missense_Mutation SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 22 17072732 17072732 T G SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.709 p.S237R 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 78 0 0.00 44 18 29.03 CDH20 0 genome.wustl.edu 37 18 59174693 59174693 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 18 59174693 59174693 A G SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.917 p.N306S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 tier1 - - 44 0 0.00 28 16 36.36 CEP170 0 genome.wustl.edu 37 1 243288182 243288182 + RNA DEL T T - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 243288182 243288182 T - DEL CEP170 ENST00000468254 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CEP170 HGNC ENSG00000143702 tier1 24 0 0.00 32 4 11.11 CFH 0 genome.wustl.edu 37 1 196706106 196706106 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 196706106 196706106 G A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.2566 p.G856R 0.884 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 50 0 0.00 17 18 51.43 CFHR5 0 genome.wustl.edu 37 1 196964906 196964906 + Silent SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 196964906 196964906 A C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.739 p.R247 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 tier1 - - 26 0 0.00 23 4 14.81 CGNL1 0 genome.wustl.edu 37 15 57753959 57753959 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 57753959 57753959 C T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2272 p.R758C 1.000 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 45 0 0.00 8 13 61.90 CLEC4A 0 genome.wustl.edu 37 12 8290839 8290839 + Missense_Mutation SNP G G C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 8290839 8290839 G C SNP CLEC4A ENST00000229332 human ensembl 74_37 +1 known missense c.670 p.G224R 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 tier1 - - 37 0 0.00 29 10 25.64 CNEP1R1 0 genome.wustl.edu 37 16 50059531 50059531 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 50059531 50059531 C T SNP CNEP1R1 ENST00000567712 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNEP1R1 HGNC ENSG00000205423 tier1 - - 42 0 0.00 20 13 39.39 CNGB3 0 genome.wustl.edu 37 8 87683188 87683188 + Missense_Mutation SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 87683188 87683188 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.477 p.E159D 0.998 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 63 0 0.00 13 45 77.59 CNOT6 0 genome.wustl.edu 37 5 179998294 179998294 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 179998294 179998294 G T SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known missense c.1323 p.R441S 0.997 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 tier1 - - 47 0 0.00 4 21 84.00 CNTNAP5 0 genome.wustl.edu 37 2 125192205 125192205 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 125192205 125192205 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.674 p.R225H 0.992 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 29 0 0.00 12 12 50.00 COL20A1 0 genome.wustl.edu 37 20 61960843 61960843 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 61960843 61960843 C T SNP COL20A1 ENST00000496810 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors COL20A1 HGNC ENSG00000101203 tier1 - - 17 0 0.00 15 15 50.00 COL5A1 0 genome.wustl.edu 37 9 137623484 137623484 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 137623484 137623484 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1307 p.A436V 0.779 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 rs144269434 - 76 0 0.00 46 21 31.34 CPED1 0 genome.wustl.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - - A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 120911387 120911388 - A INS CPED1 ENST00000310396 human ensembl 74_37 +1 known frame_shift_ins c.2771_2772 p.H927fs 1.000:1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 tier1 42 0 0.00 25 17 40.48 CPT1C 0 genome.wustl.edu 37 19 50208474 50208474 + Silent SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 50208474 50208474 T C SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known silent c.883 p.L295 0.062 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 16 0 0.00 34 3 8.11 CRYZ 0 genome.wustl.edu 37 1 75172868 75172868 + Silent SNP T T A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 75172868 75172868 T A SNP CRYZ ENST00000340866 human ensembl 74_37 -1 known silent c.651 p.G217 0.892 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 tier1 - - 30 0 0.00 17 8 32.00 CSRNP1 0 genome.wustl.edu 37 3 39184677 39184677 + Frame_Shift_Del DEL C C - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 39184677 39184677 C - DEL CSRNP1 ENST00000273153 human ensembl 74_37 -1 known frame_shift_del c.1639 p.D547fs 0.997 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 tier1 71 0 0.00 36 2 5.26 CTNND2 0 genome.wustl.edu 37 5 11023020 11023020 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 11023020 11023020 C A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2860 p.A954S 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 93 0 0.00 19 20 51.28 CYFIP1 0 genome.wustl.edu 37 15 22933760 22933760 + Nonsense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 22933760 22933760 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known nonsense c.679 p.Q227* 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 38 0 0.00 39 4 9.30 CYP4F8 0 genome.wustl.edu 37 19 15726480 15726480 + RNA SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 15726480 15726480 C A SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 112 0 0.00 88 5 5.32 DCAF12L1 0 genome.wustl.edu 37 X 125686171 125686171 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 125686171 125686171 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.421 p.A141S 0.006 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 59 0 0.00 36 37 50.68 DCAF12L2 0 genome.wustl.edu 37 X 125298723 125298723 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 125298723 125298723 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.1185 p.P395 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 30 0 0.00 31 17 35.42 DDX41 0 genome.wustl.edu 37 5 176939340 176939340 + Frame_Shift_Del DEL A A - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 176939340 176939340 A - DEL DDX41 ENST00000507955 human ensembl 74_37 -1 known frame_shift_del c.1604 p.F535fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 tier1 28 0 0.00 27 2 6.90 DIAPH2 0 genome.wustl.edu 37 X 95993591 95993591 + Nonsense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 95993591 95993591 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known nonsense c.172 p.R58* 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 10 0 0.00 6 7 53.85 DLGAP2 0 genome.wustl.edu 37 8 1574961 1574961 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 1574961 1574961 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1258 p.A420T 0.017 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 33 0 0.00 7 21 75.00 DNAH6 0 genome.wustl.edu 37 2 84930558 84930558 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 84930558 84930558 G A SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.8101 p.E2701K 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 25 0 0.00 30 2 6.25 DNAJB2 0 genome.wustl.edu 37 2 220149625 220149625 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 220149625 220149625 G A SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known silent c.891 p.G297 0.015 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 tier1 - - 47 0 0.00 20 14 41.18 DNM1L 0 genome.wustl.edu 37 12 32863935 32863935 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 32863935 32863935 C T SNP DNM1L ENST00000553257 human ensembl 74_37 +1 known missense c.481 p.P161S 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors DNM1L HGNC ENSG00000087470 tier1 - - 47 0 0.00 38 4 9.30 DOCK5 0 genome.wustl.edu 37 8 25158123 25158123 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 25158123 25158123 G T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.796 p.G266W 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 42 0 0.00 48 3 5.88 DOT1L 0 genome.wustl.edu 37 19 2191155 2191155 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 2191155 2191155 G T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.409 p.G137W 1.000 pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 41 0 0.00 26 3 10.34 DPEP3 0 genome.wustl.edu 37 16 68012481 68012481 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 68012481 68012481 G A SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known missense c.538 p.R180C 0.997 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 tier1 - - 58 0 0.00 14 24 63.16 DPP4 0 genome.wustl.edu 37 2 162875300 162875300 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 162875300 162875300 C T SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known silent c.1359 p.R453 0.995 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 tier1 - - 35 0 0.00 20 6 23.08 DPP6 0 genome.wustl.edu 37 7 154429553 154429553 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 154429553 154429553 G T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.650 p.G217V 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 35 0 0.00 10 15 60.00 DSC3 0 genome.wustl.edu 37 18 28586985 28586985 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 18 28586985 28586985 G A SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known silent c.1776 p.T592 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 tier1 rs139705637 - 50 0 0.00 22 20 47.62 DST 0 genome.wustl.edu 37 6 56392430 56392430 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 56392430 56392430 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17690 p.A5897E 0.997 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 46 0 0.00 24 2 7.69 E2F7 0 genome.wustl.edu 37 12 77449703 77449703 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 77449703 77449703 G A SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.301 p.R101W 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 tier1 - - 101 0 0.00 43 25 36.76 ELP3 0 genome.wustl.edu 37 8 28017783 28017783 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 28017783 28017783 G T SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known missense c.1295 p.G432V 1.000 superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 tier1 - - 34 0 0.00 56 4 6.67 ENAH 0 genome.wustl.edu 37 1 225685496 225685496 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 225685496 225685496 C T SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.1757 p.S586N 1.000 pfam_VASP_tetra pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 tier1 - - 73 0 0.00 37 30 44.78 ENSG00000221060 0 genome.wustl.edu 37 14 70270921 70270922 + RNA INS - - T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 70270921 70270922 - T INS ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 15 0 0.00 23 3 11.54 ENSG00000224303 0 genome.wustl.edu 37 9 43151948 43151948 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 43151948 43151948 G A SNP ENSG00000224303 ENST00000447613 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-327I22.5 Clone_based_vega_gene ENSG00000224303 tier1 - - 37 0 0.00 13 21 61.76 ENSG00000231064 0 genome.wustl.edu 37 1 155168105 155168105 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 155168105 155168105 C T SNP ENSG00000231064 ENST00000454348 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 tier1 - - 13 0 0.00 18 6 25.00 ENSG00000232274 0 genome.wustl.edu 37 1 143196679 143196679 + RNA SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 143196679 143196679 A C SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.970 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 129 0 0.00 61 35 35.71 ENSG00000237452 0 genome.wustl.edu 37 19 46256971 46256971 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 46256971 46256971 T C SNP ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative missense c.481 p.S161P 0.998 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 - - 37 0 0.00 44 4 8.33 ENSG00000266865 0 genome.wustl.edu 37 17 29349101 29349101 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 29349101 29349101 G A SNP ENSG00000266865 ENST00000579692 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-848P1.9 Clone_based_vega_gene ENSG00000266865 tier1 - - 31 0 0.00 50 7 12.28 ENSG00000267848 0 genome.wustl.edu 37 20 62585480 62585480 + Silent SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 62585480 62585480 T G SNP ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known silent c.474 p.L158 0.003 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 - - 20 0 0.00 29 18 38.30 ENSG00000268467 0 genome.wustl.edu 37 11 107463178 107463178 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 107463178 107463178 G A SNP ENSG00000268467 ENST00000600612 human ensembl 74_37 +1 known missense c.376 p.V126M 0.017 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268467 tier1 - - 57 0 0.00 38 4 9.52 ENSG00000270574 0 genome.wustl.edu 37 2 179444598 179444598 + RNA SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 179444598 179444598 A C SNP ENSG00000270574 ENST00000603521 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RP11-171I2.2 Clone_based_vega_gene ENSG00000270574 tier1 - - 16 0 0.00 4 4 50.00 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 tier1 30 0 0.00 22 3 12.00 ENTPD3 0 genome.wustl.edu 37 3 40466257 40466257 + Splice_Site SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 40466257 40466257 G A SNP ENTPD3 ENST00000445129 human ensembl 74_37 +1 novel splice_site c.1354-1 e10-1 0.163 - - - no_errors ENTPD3 HGNC ENSG00000168032 tier1 - - 34 0 0.00 27 6 18.18 ERBB2 0 genome.wustl.edu 37 17 37866342 37866342 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 37866342 37866342 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.647 p.T216M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors ERBB2 HGNC ENSG00000141736 31 0 0.00 16 4 20.00 ESRRG 0 genome.wustl.edu 37 1 216692714 216692714 + Silent SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 216692714 216692714 A T SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known silent c.912 p.A304 0.978 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 35 0 0.00 35 2 5.41 EYS 0 genome.wustl.edu 37 6 66012712 66012712 + RNA SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 66012712 66012712 A C SNP EYS ENST00000370615 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors EYS HGNC ENSG00000188107 tier1 - - 28 0 0.00 21 17 44.74 FASTKD3 0 genome.wustl.edu 37 5 7867768 7867768 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 7867768 7867768 C T SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known silent c.429 p.K143 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 tier1 - - 23 0 0.00 8 12 60.00 FBLN2 0 genome.wustl.edu 37 3 13670520 13670520 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 13670520 13670520 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.2685 p.H895 0.593 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 79 0 0.00 62 19 23.46 FHOD3 0 genome.wustl.edu 37 18 34232557 34232557 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 18 34232557 34232557 G T SNP FHOD3 ENST00000590592 human ensembl 74_37 +1 putative missense c.1311 p.Q437H 0.056 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 15 0 0.00 14 5 26.32 FLOT2 0 genome.wustl.edu 37 17 27207851 27207851 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 27207851 27207851 G T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known silent c.1128 p.T376 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 tier1 - - 41 0 0.00 49 4 7.55 FLVCR1 0 genome.wustl.edu 37 1 213068654 213068654 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 213068654 213068654 C T SNP FLVCR1 ENST00000483790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FLVCR1 HGNC ENSG00000162769 tier1 - - 26 0 0.00 30 12 28.57 FUT4 0 genome.wustl.edu 37 11 94278596 94278596 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 94278596 94278596 G A SNP FUT4 ENST00000358752 human ensembl 74_37 +1 known missense c.1297 p.A433T 0.338 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 61 0 0.00 36 3 7.69 GABRA6 0 genome.wustl.edu 37 5 161128572 161128572 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 161128572 161128572 C T SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known silent c.1155 p.S385 0.837 superfamily_Neurotrans-gated_channel_TM,prints_GABBAa6_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 18 0 0.00 7 9 56.25 GALNT13 0 genome.wustl.edu 37 2 155158056 155158056 + Missense_Mutation SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 155158056 155158056 A C SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.1110 p.E370D 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 tier1 - - 35 0 0.00 22 9 29.03 GAS2L1 0 genome.wustl.edu 37 22 29708357 29708357 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 22 29708357 29708357 G A SNP GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative silent c.1236 p.Q412 0.998 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 tier1 - - 49 0 0.00 35 4 10.26 GAS2L2 0 genome.wustl.edu 37 17 34077291 34077291 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 34077291 34077291 C T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.432 p.V144 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 tier1 - - 60 0 0.00 38 30 44.12 GBAP1 0 genome.wustl.edu 37 1 155184057 155184057 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 155184057 155184057 G A SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors GBAP1 HGNC ENSG00000160766 tier1 rs114312440 - 8 0 0.00 6 7 53.85 GDPD4 0 genome.wustl.edu 37 11 76980100 76980100 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 76980100 76980100 C T SNP GDPD4 ENST00000376217 human ensembl 74_37 -1 known missense c.493 p.V165I 0.001 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 tier1 - - 26 0 0.00 17 4 19.05 GFPT1 0 genome.wustl.edu 37 2 69556817 69556817 + Silent SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 69556817 69556817 A T SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known silent c.1596 p.P532 0.996 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 tier1 - - 39 0 0.00 31 3 8.82 GMIP 0 genome.wustl.edu 37 19 19745736 19745736 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 19745736 19745736 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known silent c.1752 p.G584 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 27 0 0.00 31 14 31.11 GOLGA2P5 0 genome.wustl.edu 37 12 100551427 100551427 + RNA SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 100551427 100551427 G T SNP GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 - - 61 0 0.00 33 12 26.67 GOLGB1 0 genome.wustl.edu 37 3 121417605 121417605 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 121417605 121417605 T C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.1750 p.R584G 0.177 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 18 0 0.00 20 3 13.04 GPR50 0 genome.wustl.edu 37 X 150348680 150348680 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 150348680 150348680 G A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.625 p.V209M 0.638 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 tier1 - - 15 0 0.00 3 14 82.35 GPSM1 0 genome.wustl.edu 37 9 139243168 139243168 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 139243168 139243168 G T SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known silent c.1227 p.T409 0.852 NULL pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 tier1 - - 124 0 0.00 87 29 25.00 GRIK2 0 genome.wustl.edu 37 6 102124642 102124642 + Missense_Mutation SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 102124642 102124642 A T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.686 p.D229V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 39 0 0.00 33 2 5.71 GRIK5 0 genome.wustl.edu 37 19 42567653 42567653 + Frame_Shift_Del DEL A A - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 42567653 42567653 A - DEL GRIK5 ENST00000594528 human ensembl 74_37 -1 known frame_shift_del c.269 p.F90fs 0.013 NULL NULL - no_errors GRIK5 HGNC ENSG00000105737 tier1 8 0 0.00 2 6 75.00 GRIN2B 0 genome.wustl.edu 37 12 13769494 13769494 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 13769494 13769494 A G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.1223 p.I408T 1.000 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 55 0 0.00 24 19 44.19 GRM8 0 genome.wustl.edu 37 7 126883137 126883137 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 126883137 126883137 C T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.122 p.R41Q 0.999 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 41 0 0.00 28 11 28.21 H2BFWT 0 genome.wustl.edu 37 X 103268123 103268123 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 103268123 103268123 G T SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known missense c.110 p.T37N 0.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 tier1 - - 56 0 0.00 10 29 74.36 HEATR4 0 genome.wustl.edu 37 14 73987652 73987652 + Nonsense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 73987652 73987652 G A SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known nonsense c.973 p.Q325* 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 106 0 0.00 100 69 40.83 HGS 0 genome.wustl.edu 37 17 79662869 79662869 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 79662869 79662869 G A SNP HGS ENST00000329138 human ensembl 74_37 +1 known silent c.1233 p.A411 0.178 pfam_HRS_helical,pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 tier1 - - 21 0 0.00 19 15 44.12 HIVEP2 0 genome.wustl.edu 37 6 143074677 143074677 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 143074677 143074677 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.6908 p.R2303Q 0.986 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 14 0 0.00 11 4 26.67 HNRNPA1P48 0 genome.wustl.edu 37 16 51680593 51680593 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 51680593 51680593 C T SNP HNRNPA1P48 ENST00000562726 human ensembl 74_37 +1 known rna NULL NULL 0.831 - - - no_errors HNRNPA1P48 HGNC ENSG00000224578 tier1 - - 25 0 0.00 32 6 15.79 HTRA2 0 genome.wustl.edu 37 2 74757387 74757387 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 74757387 74757387 C T SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known missense c.254 p.A85V 0.000 NULL pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 53 0 0.00 42 3 6.52 IFT74 0 genome.wustl.edu 37 9 27060613 27060613 + Nonsense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 27060613 27060613 C T SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known nonsense c.1648 p.Q550* 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 57 0 0.00 75 4 5.06 IGF2BP1 0 genome.wustl.edu 37 17 47075262 47075262 + Missense_Mutation SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 47075262 47075262 A T SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.155 p.K52M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 35 0 0.00 34 3 8.11 IL34 0 genome.wustl.edu 37 16 70693596 70693596 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 70693596 70693596 C T SNP IL34 ENST00000288098 human ensembl 74_37 +1 known missense c.478 p.R160W 1.000 NULL prints_IL-34 - no_errors IL34 HGNC ENSG00000157368 tier1 - - 51 0 0.00 38 4 9.52 ISPD 0 genome.wustl.edu 37 7 16445915 16445915 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 16445915 16445915 A G SNP ISPD ENST00000407010 human ensembl 74_37 -1 known missense c.305 p.M102T 0.998 pfam_IspD pfam_IspD - no_errors ISPD HGNC ENSG00000214960 36 0 0.00 45 3 6.25 ITGA8 0 genome.wustl.edu 37 10 15688907 15688907 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 15688907 15688907 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.1145 p.T382M 0.156 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 rs141621826 - 45 0 0.00 34 8 19.05 ITGAL 0 genome.wustl.edu 37 16 30490734 30490734 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 30490734 30490734 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known silent c.528 p.L176 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 34 0 0.00 38 9 19.15 KCNJ12 0 genome.wustl.edu 37 17 21319233 21319233 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 21319233 21319233 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.579 p.T193 0.400 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 68 0 0.00 36 8 18.18 KCNMA1 0 genome.wustl.edu 37 10 78839253 78839253 + Nonsense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 78839253 78839253 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known nonsense c.1579 p.Q527* 1.000 pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 44 0 0.00 28 4 12.50 KCNQ3 0 genome.wustl.edu 37 8 133142216 133142216 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 133142216 133142216 A G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1912 p.F638L 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 38 0 0.00 9 37 80.43 KCTD2 0 genome.wustl.edu 37 17 73049184 73049184 + Missense_Mutation SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 73049184 73049184 A T SNP KCTD2 ENST00000322444 human ensembl 74_37 +1 known missense c.524 p.E175V 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC ENSG00000180901 tier1 - - 73 0 0.00 68 4 5.56 KDM4A 0 genome.wustl.edu 37 1 44149426 44149426 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 44149426 44149426 G T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1806 p.K602N 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 47 0 0.00 38 4 9.52 KHDRBS1 0 genome.wustl.edu 37 1 32508883 32508884 + RNA INS - - A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 32508883 32508884 - A INS KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 0.907:0.991 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 41 0 0.00 32 7 17.95 KIAA2018 0 genome.wustl.edu 37 3 113376139 113376139 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 113376139 113376139 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.4390 p.Q1464K 0.962 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 31 0 0.00 14 5 26.32 KNDC1 0 genome.wustl.edu 37 10 134974017 134974017 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 134974017 134974017 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.46 p.G16S 0.784 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 36 0 0.00 26 21 44.68 KRT10 0 genome.wustl.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 38978766 38978768 TCC - DEL KRT10 ENST00000269576 human ensembl 74_37 -1 known in_frame_del c.72_70 p.G24in_frame_del 0.009:0.118:0.124 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 30 0 0.00 35 4 10.26 KRT12 0 genome.wustl.edu 37 17 39018846 39018846 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 39018846 39018846 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.1358 p.S453L 0.986 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 tier1 - - 46 0 0.00 62 4 6.06 KRT8 0 genome.wustl.edu 37 12 53295762 53295762 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 53295762 53295762 A G SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.419 p.F140S 0.999 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 27 0 0.00 33 5 13.16 LENG8 0 genome.wustl.edu 37 19 54969980 54969980 + Silent SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 54969980 54969980 C A SNP LENG8 ENST00000431846 human ensembl 74_37 +1 putative silent c.2520 p.S840 0.001 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 tier1 - - 60 0 0.00 56 4 6.67 LHPP 0 genome.wustl.edu 37 10 126301884 126301884 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 126301884 126301884 C T SNP LHPP ENST00000368842 human ensembl 74_37 +1 known silent c.768 p.N256 1.000 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 tier1 - - 106 0 0.00 76 20 20.83 LILRA3 0 genome.wustl.edu 37 19 54802103 54802103 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 54802103 54802103 G A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known missense c.1085 p.A362V 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 tier1 - - 101 0 0.00 109 23 17.42 LINC00052 0 genome.wustl.edu 37 15 88121520 88121521 + RNA DEL TC TC - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 88121520 88121521 TC - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.018:0.021 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 32 0 0.00 16 4 20.00 LLGL1 0 genome.wustl.edu 37 17 18137690 18137690 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 18137690 18137690 C T SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.818 p.T273M 0.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 tier1 - - 46 0 0.00 8 22 70.97 LPAL2 0 genome.wustl.edu 37 6 160908421 160908421 + RNA SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 160908421 160908421 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 74 0 0.00 38 20 34.48 LRRC14B 0 genome.wustl.edu 37 5 195433 195433 + Nonsense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 195433 195433 G T SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel nonsense c.1510 p.E504* 0.997 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 43 0 0.00 32 2 5.88 LRRC27 0 genome.wustl.edu 37 10 134158106 134158106 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 134158106 134158106 C T SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known missense c.505 p.R169W 0.609 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 tier1 - - 67 0 0.00 75 4 5.06 LRRC37A 0 genome.wustl.edu 37 17 44408220 44408220 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 44408220 44408220 G A SNP LRRC37A ENST00000320254 human ensembl 74_37 +1 known missense c.3577 p.A1193T 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 tier1 - - 38 0 0.00 8 40 83.33 LRRC37A 0 genome.wustl.edu 37 17 44408942 44408942 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 44408942 44408942 C A SNP LRRC37A ENST00000320254 human ensembl 74_37 +1 known missense c.4299 p.N1433K 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 tier1 - - 22 0 0.00 7 18 72.00 LRRC8B 0 genome.wustl.edu 37 1 90049550 90049550 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 90049550 90049550 G A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known silent c.1341 p.L447 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 tier1 - - 25 0 0.00 21 6 22.22 MAGEB1 0 genome.wustl.edu 37 X 30269482 30269482 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 30269482 30269482 A G SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.872 p.K291R 0.409 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 tier1 - - 19 0 0.00 8 18 69.23 MAGEE2 0 genome.wustl.edu 37 X 75003412 75003412 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 75003412 75003412 G A SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.1475 p.P492L 0.006 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 37 0 0.00 13 30 69.77 MAP2K4 0 genome.wustl.edu 37 17 12044531 12044531 + Missense_Mutation SNP T T A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 12044531 12044531 T A SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.1187 p.L396Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K4 HGNC ENSG00000065559 38 0 0.00 39 3 7.14 MAP3K5 0 genome.wustl.edu 37 6 136913591 136913591 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 136913591 136913591 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.3040 p.R1014W 0.960 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 29 0 0.00 23 2 8.00 MBOAT2 0 genome.wustl.edu 37 2 9017337 9017337 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 9017337 9017337 C T SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known missense c.513 p.M171I 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 tier1 - - 47 0 0.00 22 3 12.00 MCRS1 0 genome.wustl.edu 37 12 49956845 49956845 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 49956845 49956845 C T SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known silent c.783 p.A261 0.999 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 tier1 - - 57 0 0.00 27 8 22.22 MDGA2 0 genome.wustl.edu 37 14 47351346 47351346 + Missense_Mutation SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 47351346 47351346 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2317 p.L773V 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 51 0 0.00 43 23 34.85 MKRN3 0 genome.wustl.edu 37 15 23811272 23811272 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 23811272 23811272 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.343 p.C115R 1.000 smart_Znf_CCCH pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 60 0 0.00 6 37 86.05 MRPL18 0 genome.wustl.edu 37 6 160211791 160211791 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 160211791 160211791 G A SNP MRPL18 ENST00000479638 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MRPL18 HGNC ENSG00000112110 tier1 - - 21 0 0.00 31 7 18.42 MSTO1 0 genome.wustl.edu 37 1 155583316 155583316 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 155583316 155583316 C G SNP MSTO1 ENST00000245564 human ensembl 74_37 +1 known missense c.1347 p.I449M 1.000 NULL pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 66 0 0.00 60 6 9.09 MUC19 0 genome.wustl.edu 37 12 40926018 40926018 + RNA SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 40926018 40926018 T G SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 60 0 0.00 24 17 41.46 MUC6 0 genome.wustl.edu 37 11 1027748 1027748 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 1027748 1027748 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.1918 p.V640I 0.545 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 35 0 0.00 41 4 8.89 MYCBP2 0 genome.wustl.edu 37 13 77673005 77673005 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 77673005 77673005 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.8284 p.E2762K 0.994 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 42 0 0.00 31 11 26.19 MYH1 0 genome.wustl.edu 37 17 10408741 10408741 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 10408741 10408741 G T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.2262 p.D754E 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 34 0 0.00 49 3 5.77 MYO19 0 genome.wustl.edu 37 17 34858967 34858967 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 34858967 34858967 C T SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.2050 p.D684N 0.001 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 44 0 0.00 34 2 5.56 MYOM3 0 genome.wustl.edu 37 1 24417405 24417405 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 24417405 24417405 G T SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.1317 p.V439 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 47 0 0.00 35 2 5.41 NAV3 0 genome.wustl.edu 37 12 78362475 78362475 + Nonsense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 78362475 78362475 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known nonsense c.664 p.Q222* 1.000 superfamily_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 21 0 0.00 13 8 38.10 NCOR2 0 genome.wustl.edu 37 12 124827641 124827641 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 124827641 124827641 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.4867 p.R1623W 0.981 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 52 0 0.00 29 15 33.33 NCOR2 0 genome.wustl.edu 37 12 124832396 124832396 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 124832396 124832396 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.4068 p.H1356Q 0.950 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 58 0 0.00 22 13 37.14 NDST2 0 genome.wustl.edu 37 10 75566718 75566718 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 75566718 75566718 G A SNP NDST2 ENST00000463410 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NDST2 HGNC ENSG00000166507 tier1 - - 20 0 0.00 5 7 58.33 NHSL2 0 genome.wustl.edu 37 X 71357028 71357028 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 71357028 71357028 G A SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.845 p.R282Q 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 rs199659776 - 20 0 0.00 4 22 84.62 NID2 0 genome.wustl.edu 37 14 52481775 52481775 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 52481775 52481775 C T SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3247 p.A1083T 0.917 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 tier1 - - 31 0 0.00 22 15 40.54 NIN 0 genome.wustl.edu 37 14 51273538 51273539 + Splice_Site INS - - A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 51273538 51273539 - A INS NIN ENST00000245441 human ensembl 74_37 -1 known splice_site_ins c.184-3_184-2 e2-2 0.997:0.854 - - - no_errors NIN HGNC ENSG00000100503 tier1 20 0 0.00 21 8 27.59 NINL 0 genome.wustl.edu 37 20 25450630 25450631 + Frame_Shift_Del DEL TG TG - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 25450630 25450631 TG - DEL NINL ENST00000278886 human ensembl 74_37 -1 known frame_shift_del c.3350_3349 p.Q1117fs 0.990:0.933 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 31 0 0.00 19 7 26.92 NKX2-6 0 genome.wustl.edu 37 8 23560349 23560349 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 23560349 23560349 G A SNP NKX2-6 ENST00000325017 human ensembl 74_37 -1 known missense c.521 p.T174M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC ENSG00000180053 tier1 - - 89 0 0.00 44 20 31.25 NPEPL1 0 genome.wustl.edu 37 20 57282250 57282250 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 57282250 57282250 C G SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.894 p.I298M 1.000 pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 106 0 0.00 73 30 29.13 NRP1 0 genome.wustl.edu 37 10 33545244 33545244 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 33545244 33545244 C G SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.814 p.D272H 1.000 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 tier1 - - 16 0 0.00 19 12 38.71 NSMCE1 0 genome.wustl.edu 37 16 27238129 27238129 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 27238129 27238129 C T SNP NSMCE1 ENST00000361439 human ensembl 74_37 -1 known missense c.512 p.R171Q 1.000 pfam_Nse1 pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING - no_errors NSMCE1 HGNC ENSG00000169189 42 0 0.00 54 3 5.26 NUMB 0 genome.wustl.edu 37 14 73743854 73743854 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 73743854 73743854 A G SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.1388 p.L463P 0.999 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 44 0 0.00 68 4 5.56 NUP98 0 genome.wustl.edu 37 11 3723694 3723694 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 3723694 3723694 G A SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.3511 p.P1171S 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 36 0 0.00 42 4 8.51 OLFM1 0 genome.wustl.edu 37 9 138011390 138011390 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 138011390 138011390 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.824 p.R275H 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 20 0 0.00 5 7 58.33 OLFM4 0 genome.wustl.edu 37 13 53624719 53624719 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 53624719 53624719 G T SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.1346 p.R449I 0.043 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 25 0 0.00 27 2 6.90 OR2AE1 0 genome.wustl.edu 37 7 99473789 99473789 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 99473789 99473789 T C SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known missense c.868 p.T290A 0.292 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 tier1 - - 21 0 0.00 16 36 69.23 OR4C6 0 genome.wustl.edu 37 11 55432736 55432736 + Missense_Mutation SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 55432736 55432736 A T SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.94 p.M32L 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 19 0 0.00 22 2 8.33 OR52N1 0 genome.wustl.edu 37 11 5809669 5809669 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 5809669 5809669 C T SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known silent c.378 p.V126 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 38 0 0.00 24 2 7.69 OR8H2 0 genome.wustl.edu 37 11 55872537 55872537 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 55872537 55872537 A G SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.19 p.N7D 0.004 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 71 0 0.00 32 3 8.57 OVOL2 0 genome.wustl.edu 37 20 18004946 18004946 + RNA SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 18004946 18004946 G T SNP OVOL2 ENST00000483661 human ensembl 74_37 -1 known rna NULL NULL 0.130 - - - no_errors OVOL2 HGNC ENSG00000125850 tier1 - - 48 0 0.00 70 4 5.41 P4HA2 0 genome.wustl.edu 37 5 131546091 131546091 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 131546091 131546091 C T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.595 p.G199R 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 23 0 0.00 24 3 11.11 PABPC3 0 genome.wustl.edu 37 13 25670833 25670833 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 25670833 25670833 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.497 p.R166H 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 36 0 0.00 38 2 5.00 PAK6 0 genome.wustl.edu 37 15 40558100 40558100 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 40558100 40558100 G A SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.262 p.D88N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 tier1 - - 44 0 0.00 15 15 50.00 PARD3 0 genome.wustl.edu 37 10 34420473 34420473 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 34420473 34420473 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.3467 p.R1156H 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 39 0 0.00 38 2 5.00 PCDH20 0 genome.wustl.edu 37 13 61986565 61986565 + Missense_Mutation SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 61986565 61986565 T G SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1667 p.K556T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 34 0 0.00 18 9 33.33 PCDHA7 0 genome.wustl.edu 37 5 140215322 140215322 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 140215322 140215322 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1354 p.A452T 0.766 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 121 0 0.00 21 72 74.23 PCDHB3 0 genome.wustl.edu 37 5 140480414 140480414 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 140480414 140480414 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.181 p.A61T 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 21 0 0.00 6 9 56.25 PDCL2 0 genome.wustl.edu 37 4 56428612 56428612 + Missense_Mutation SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 4 56428612 56428612 A T SNP PDCL2 ENST00000295645 human ensembl 74_37 -1 known missense c.530 p.I177N 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold - no_errors PDCL2 HGNC ENSG00000163440 tier1 - - 32 0 0.00 23 3 11.54 PDZD4 0 genome.wustl.edu 37 X 153069776 153069776 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 153069776 153069776 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.1342 p.P448S 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 32 0 0.00 37 4 9.76 PDZD8 0 genome.wustl.edu 37 10 119134124 119134124 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 119134124 119134124 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known silent c.615 p.A205 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 12 0 0.00 6 2 25.00 PER2 0 genome.wustl.edu 37 2 239184491 239184491 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 239184491 239184491 G A SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.341 p.T114I 0.987 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 tier1 - - 58 0 0.00 39 14 26.42 PER3 0 genome.wustl.edu 37 1 7895980 7895980 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 7895980 7895980 C G SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.3346 p.L1116V 0.886 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 20 0 0.00 11 6 35.29 PHF2 0 genome.wustl.edu 37 9 96428130 96428130 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 96428130 96428130 G A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.2100 p.P700 0.712 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 - - 61 0 0.00 47 13 21.67 PINK1 0 genome.wustl.edu 37 1 20975099 20975099 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 20975099 20975099 G A SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1225 p.G409R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PINK1 HGNC ENSG00000158828 tier1 - - 55 0 0.00 21 8 27.59 PINX1 0 genome.wustl.edu 37 8 10623267 10623267 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 10623267 10623267 T C SNP PINX1 ENST00000314787 human ensembl 74_37 -1 known missense c.631 p.R211G 0.056 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 48 0 0.00 35 2 5.41 PKD1L1 0 genome.wustl.edu 37 7 47897316 47897316 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 47897316 47897316 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.4477 p.G1493S 0.015 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 17 0 0.00 25 20 44.44 PKD1L3 0 genome.wustl.edu 37 16 72003796 72003796 + RNA SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 72003796 72003796 T C SNP PKD1L3 ENST00000335106 human ensembl 74_37 -1 known rna NULL NULL 0.678 - - - no_errors PKD1L3 HGNC ENSG00000187008 tier1 - - 42 0 0.00 33 4 10.81 PLEKHG6 0 genome.wustl.edu 37 12 6424739 6424739 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 6424739 6424739 G T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known missense c.479 p.C160F 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 23 0 0.00 21 2 8.70 PPFIA3 0 genome.wustl.edu 37 19 49633254 49633254 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 49633254 49633254 T C SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.587 p.L196P 0.999 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 29 0 0.00 31 3 8.82 PPP1R26 0 genome.wustl.edu 37 9 138379062 138379062 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 138379062 138379062 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.2706 p.A902 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 35 0 0.00 29 10 25.64 PPP1R3A 0 genome.wustl.edu 37 7 113517782 113517782 + Missense_Mutation SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 113517782 113517782 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.3365 p.K1122T 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 37 0 0.00 14 9 39.13 PRICKLE1 0 genome.wustl.edu 37 12 42853858 42853858 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 42853858 42853858 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.2249 p.R750Q 0.004 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 - - 29 0 0.00 14 12 46.15 PROS1 0 genome.wustl.edu 37 3 93605274 93605274 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 93605274 93605274 G T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1229 p.P410H 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 tier1 rs199469495 - 57 0 0.00 25 18 41.86 PRSS48 0 genome.wustl.edu 37 4 152201018 152201018 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 4 152201018 152201018 G T SNP PRSS48 ENST00000455694 human ensembl 74_37 +1 known missense c.123 p.W41C 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS48 HGNC ENSG00000189099 26 0 0.00 56 5 8.20 PSTPIP1 0 genome.wustl.edu 37 15 77320140 77320140 + Frame_Shift_Del DEL G G - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 77320140 77320140 G - DEL PSTPIP1 ENST00000560796 human ensembl 74_37 +1 known frame_shift_del c.306 p.*102fs 0.922 NULL pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 35 0 0.00 29 2 6.45 PTPRB 0 genome.wustl.edu 37 12 70918373 70918373 + Splice_Site SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 70918373 70918373 T C SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known splice_site c.6505-2 e33-2 0.998 - - - no_errors PTPRB HGNC ENSG00000127329 21 0 0.00 27 2 6.90 RAI1 0 genome.wustl.edu 37 17 17700071 17700071 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 17700071 17700071 T C SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.3809 p.F1270S 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 47 0 0.00 42 3 6.67 RASEF 0 genome.wustl.edu 37 9 85616023 85616023 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 85616023 85616023 C T SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.1225 p.D409N 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 18 0 0.00 19 4 17.39 RASGEF1A 0 genome.wustl.edu 37 10 43701549 43701549 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 43701549 43701549 C T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.16 p.V6I 0.322 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 37 0 0.00 28 2 6.67 RBM25 0 genome.wustl.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 73572607 73572608 AG - DEL RBM25 ENST00000261973 human ensembl 74_37 +1 known frame_shift_del c.1195_1196 p.E402fs 0.998:1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 tier1 24 0 0.00 38 5 11.63 RFX5 0 genome.wustl.edu 37 1 151316983 151316983 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 151316983 151316983 C T SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.383 p.R128H 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 18 0 0.00 23 3 11.54 RIMS4 0 genome.wustl.edu 37 20 43438826 43438826 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 43438826 43438826 G A SNP RIMS4 ENST00000541604 human ensembl 74_37 -1 known silent c.87 p.D29 0.807 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS4 HGNC ENSG00000101098 tier1 - - 13 0 0.00 7 4 36.36 RIOK3 0 genome.wustl.edu 37 18 21044495 21044495 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 18 21044495 21044495 C T SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known missense c.446 p.P149L 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 tier1 - - 16 0 0.00 9 7 43.75 RMI1 0 genome.wustl.edu 37 9 86617740 86617740 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 86617740 86617740 G A SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1839 p.M613I 0.183 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 49 0 0.00 72 4 5.26 RNF14 0 genome.wustl.edu 37 5 141357922 141357922 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 141357922 141357922 G A SNP RNF14 ENST00000347642 human ensembl 74_37 +1 known missense c.361 p.V121M 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 50 0 0.00 33 2 5.71 RPA1 0 genome.wustl.edu 37 17 1756455 1756455 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 1756455 1756455 G T SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known missense c.333 p.K111N 1.000 superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 tier1 - - 31 0 0.00 12 18 60.00 RPL12 0 genome.wustl.edu 37 9 130210016 130210017 + RNA INS - - A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 130210016 130210017 - A INS RPL12 ENST00000497322 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.010 - - - no_errors RPL12 HGNC ENSG00000197958 tier1 39 0 0.00 24 12 33.33 RSPH3 0 genome.wustl.edu 37 6 159401884 159401884 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 159401884 159401884 G A SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known missense c.1207 p.R403C 1.000 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 tier1 - - 43 0 0.00 36 10 21.74 RTTN 0 genome.wustl.edu 37 18 67760024 67760025 + Frame_Shift_Ins INS - - A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 18 67760024 67760025 - A INS RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_ins c.3920_3919 p.Y1307fs 1.000:1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 28 0 0.00 24 17 41.46 RYR1 0 genome.wustl.edu 37 19 39052025 39052025 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 39052025 39052025 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.12555 p.A4185 0.996 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 37 0 0.00 26 8 23.53 RYR2 0 genome.wustl.edu 37 1 237777491 237777491 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 237777491 237777491 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5057 p.A1686V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 61 0 0.00 47 3 6.00 RYR3 0 genome.wustl.edu 37 15 34150114 34150114 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 34150114 34150114 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.14141 p.T4714M 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 42 0 0.00 11 19 63.33 RYR3 0 genome.wustl.edu 37 15 33952554 33952554 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 33952554 33952554 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4552 p.R1518C 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 37 0 0.00 35 2 5.41 SCAF11 0 genome.wustl.edu 37 12 46355595 46355595 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 46355595 46355595 C T SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.107 p.S36N 0.103 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 24 0 0.00 28 2 6.67 SCEL 0 genome.wustl.edu 37 13 78146277 78146277 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 78146277 78146277 G T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known silent c.498 p.P166 0.982 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 40 0 0.00 17 8 29.63 SCN11A 0 genome.wustl.edu 37 3 38951598 38951598 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 38951598 38951598 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1060 p.R354W 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 29 0 0.00 17 8 32.00 SCN2A 0 genome.wustl.edu 37 2 166201217 166201217 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 166201217 166201217 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.2715 p.K905 0.979 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 78 0 0.00 41 16 28.07 SCN8A 0 genome.wustl.edu 37 12 52099283 52099283 + Missense_Mutation SNP T T A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 52099283 52099283 T A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.1217 p.I406N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 54 0 0.00 49 4 7.55 SEC23B 0 genome.wustl.edu 37 20 18535015 18535015 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 18535015 18535015 C T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.2129 p.T710M 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 tier1 - - 40 0 0.00 37 23 38.33 SEMA5A 0 genome.wustl.edu 37 5 9337859 9337859 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 9337859 9337859 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.190 p.D64N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 40 0 0.00 20 10 33.33 SF3A1 0 genome.wustl.edu 37 22 30738219 30738219 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 22 30738219 30738219 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.847 p.E283K 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 tier1 - - 13 0 0.00 4 10 71.43 SHARPIN 0 genome.wustl.edu 37 8 145154929 145154929 + Nonsense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 145154929 145154929 G T SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known nonsense c.420 p.C140* 0.012 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 70 0 0.00 91 5 5.21 SIGLEC7 0 genome.wustl.edu 37 19 51645917 51645917 + Silent SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 51645917 51645917 C A SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known silent c.291 p.L97 0.053 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 62 0 0.00 51 21 29.17 SIPA1L1 0 genome.wustl.edu 37 14 72054755 72054755 + Frame_Shift_Del DEL C C - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 72054755 72054755 C - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.166 p.R58fs 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 38 0 0.00 32 2 5.88 SIX3 0 genome.wustl.edu 37 2 45171797 45171797 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 45171797 45171797 G A SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.897 p.T299 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 tier1 - - 33 0 0.00 11 6 35.29 SLC12A5 0 genome.wustl.edu 37 20 44669098 44669098 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 44669098 44669098 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.768 p.Y256 0.999 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 rs200570265 - 28 0 0.00 22 12 35.29 SLC16A14 0 genome.wustl.edu 37 2 230923853 230923853 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 230923853 230923853 G T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known silent c.216 p.T72 0.003 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 18 0 0.00 28 4 12.50 SLC17A5 0 genome.wustl.edu 37 6 74320149 74320149 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 74320149 74320149 G A SNP SLC17A5 ENST00000355773 human ensembl 74_37 -1 known silent c.1233 p.S411 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 tier1 - - 43 0 0.00 46 4 7.84 SLC22A31 0 genome.wustl.edu 37 16 89267881 89267882 + Frame_Shift_Ins INS - - A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 89267881 89267882 - A INS SLC22A31 ENST00000562855 human ensembl 74_37 -1 novel frame_shift_ins c.192_191 p.R65fs 0.006:0.045 NULL pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A31 HGNC ENSG00000259803 tier1 13 0 0.00 2 2 50.00 SLC22A4 0 genome.wustl.edu 37 5 131630483 131630483 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 131630483 131630483 G A SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known silent c.174 p.L58 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 27 0 0.00 18 2 10.00 SLC30A8 0 genome.wustl.edu 37 8 118183343 118183343 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 118183343 118183343 G A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known silent c.900 p.V300 0.997 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 tier1 - - 34 0 0.00 30 18 37.50 SLC38A6 0 genome.wustl.edu 37 14 61519066 61519066 + Splice_Site SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 61519066 61519066 G A SNP SLC38A6 ENST00000267488 human ensembl 74_37 +1 known splice_site c.1291-1 e16-1 1.000 - - - no_errors SLC38A6 HGNC ENSG00000139974 25 0 0.00 21 2 8.70 SLC6A6 0 genome.wustl.edu 37 3 14485184 14485184 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 14485184 14485184 C T SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known silent c.42 p.H14 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 tier1 - - 53 0 0.00 56 4 6.67 SLK 0 genome.wustl.edu 37 10 105762238 105762238 + Silent SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 105762238 105762238 T C SNP SLK ENST00000369755 human ensembl 74_37 +1 known silent c.1302 p.P434 0.001 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 23 0 0.00 22 4 15.38 SMIM2 0 genome.wustl.edu 37 13 44734943 44734943 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 13 44734943 44734943 G T SNP SMIM2 ENST00000400419 human ensembl 74_37 -1 known missense c.49 p.L17M 0.004 NULL NULL - no_errors SMIM2 HGNC ENSG00000139656 tier1 - - 51 0 0.00 57 4 6.56 SMPDL3A 0 genome.wustl.edu 37 6 123116897 123116897 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 123116897 123116897 C T SNP SMPDL3A ENST00000368440 human ensembl 74_37 +1 known missense c.188 p.A63V 0.946 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 tier1 - - 47 0 0.00 49 4 7.55 SNHG14 0 genome.wustl.edu 37 15 25492311 25492311 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 25492311 25492311 G A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 22 0 0.00 23 7 23.33 SPHK2 0 genome.wustl.edu 37 19 49129197 49129197 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 49129197 49129197 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.275 p.T92I 0.224 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 64 0 0.00 48 20 28.99 SRGAP3 0 genome.wustl.edu 37 3 9121758 9121758 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 9121758 9121758 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.437 p.G146D 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 30 0 0.00 15 4 20.00 SRRM4 0 genome.wustl.edu 37 12 119594488 119594488 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 119594488 119594488 G T SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1721 p.S574I 0.999 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 tier1 - - 20 0 0.00 12 6 33.33 SSTR1 0 genome.wustl.edu 37 14 38678997 38678997 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 38678997 38678997 A G SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.403 p.S135G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 tier1 - - 24 0 0.00 15 3 16.67 SYNE1 0 genome.wustl.edu 37 6 152751266 152751266 + Missense_Mutation SNP T T G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 152751266 152751266 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.4769 p.K1590T 0.995 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 51 0 0.00 21 30 58.82 SYT10 0 genome.wustl.edu 37 12 33560014 33560014 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 33560014 33560014 A G SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.787 p.F263L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 tier1 - - 49 0 0.00 24 8 25.00 TBC1D3P2 0 genome.wustl.edu 37 17 60342164 60342164 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 60342164 60342164 G A SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 tier1 - - 33 0 0.00 32 6 15.79 TDRD10 0 genome.wustl.edu 37 1 154517337 154517337 + Silent SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 154517337 154517337 C A SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.864 p.A288 0.775 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 29 0 0.00 25 5 16.67 TENM3 0 genome.wustl.edu 37 4 183267981 183267981 + Frame_Shift_Del DEL G G - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 4 183267981 183267981 G - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.410 p.V139fs 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 58 0 0.00 6 7 53.85 TENM3 0 genome.wustl.edu 37 4 183267987 183267987 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 4 183267987 183267987 T C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.416 p.V139A 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 52 0 0.00 3 8 72.73 TFAP2B 0 genome.wustl.edu 37 6 50789793 50789793 + RNA DEL T T - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 50789793 50789793 T - DEL TFAP2B ENST00000489228 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors TFAP2B HGNC ENSG00000008196 tier1 42 0 0.00 40 5 11.11 TMEFF1 0 genome.wustl.edu 37 9 103261069 103261069 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 103261069 103261069 C A SNP TMEFF1 ENST00000374879 human ensembl 74_37 +1 known missense c.219 p.D73E 0.949 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF1 HGNC ENSG00000241697 tier1 - - 43 0 0.00 34 9 20.93 TMEM136 0 genome.wustl.edu 37 11 120198134 120198134 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 120198134 120198134 G T SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known missense c.50 p.W17L 0.362 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 47 0 0.00 38 3 7.32 TMEM237 0 genome.wustl.edu 37 2 202501519 202501519 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 202501519 202501519 G T SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known missense c.226 p.P76T 0.521 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 tier1 - - 32 0 0.00 10 3 23.08 TNFRSF8 0 genome.wustl.edu 37 1 12175723 12175723 + Missense_Mutation SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 12175723 12175723 A G SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.883 p.N295D 0.917 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 - - 32 0 0.00 16 11 40.74 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 17 0 0.00 13 11 45.83 TP53 0 genome.wustl.edu 37 17 7579536 7579536 + Nonsense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 7579536 7579536 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.151 p.E51* 0.001 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 68 0 0.00 44 16 26.67 TPO 0 genome.wustl.edu 37 2 1499881 1499881 + Missense_Mutation SNP C C G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 1499881 1499881 C G SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2127 p.F709L 0.700 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 40 0 0.00 10 10 50.00 TPSB2 0 genome.wustl.edu 37 16 1279206 1279206 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 16 1279206 1279206 C T SNP TPSB2 ENST00000430512 human ensembl 74_37 -1 known missense c.481 p.D161N 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSB2 HGNC ENSG00000197253 tier1 - - 20 0 0.00 2 17 89.47 TREML3P 0 genome.wustl.edu 37 6 41176727 41176727 + RNA SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 6 41176727 41176727 C A SNP TREML3P ENST00000564680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TREML3P HGNC ENSG00000184106 18 0 0.00 56 7 11.11 TRIM42 0 genome.wustl.edu 37 3 140401781 140401781 + Silent SNP A A G TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 140401781 140401781 A G SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.819 p.Q273 1.000 smart_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 38 0 0.00 20 6 23.08 TRPM3 0 genome.wustl.edu 37 9 73457905 73457905 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 73457905 73457905 C A SNP TRPM3 ENST00000377097 human ensembl 74_37 -1 putative missense c.356 p.C119F 0.000 NULL NULL - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 36 0 0.00 29 9 23.68 TRRAP 0 genome.wustl.edu 37 7 98579422 98579422 + Missense_Mutation SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 7 98579422 98579422 T C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.8644 p.W2882R 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 34 0 0.00 56 10 14.93 TSC1 0 genome.wustl.edu 37 9 135777079 135777079 + Missense_Mutation SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 9 135777079 135777079 A C SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.2399 p.L800R 1.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 38 0 0.00 12 15 55.56 TSHR 0 genome.wustl.edu 37 14 81558920 81558920 + Silent SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 14 81558920 81558920 T C SNP TSHR ENST00000298171 human ensembl 74_37 +1 known silent c.513 p.A171 0.994 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 tier1 - - 35 0 0.00 48 4 7.69 TSKS 0 genome.wustl.edu 37 19 50248526 50248526 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 50248526 50248526 G A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.1120 p.R374C 0.913 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 - - 74 0 0.00 51 19 27.14 TTN 0 genome.wustl.edu 37 2 179479651 179479651 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 2 179479651 179479651 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40979 p.R13660H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 29 0 0.00 17 7 29.17 UHRF1 0 genome.wustl.edu 37 19 4962030 4962031 + RNA DEL GG GG - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 4962030 4962031 GG 0 DEL UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors UHRF1 HGNC ENSG00000034063 15 0 0.00 5 3 37.50 USP32 0 genome.wustl.edu 37 17 58372092 58372092 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 58372092 58372092 G A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known silent c.363 p.H121 0.997 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 tier1 - - 48 0 0.00 28 12 30.00 USP8 0 genome.wustl.edu 37 15 50784955 50784955 + Missense_Mutation SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 50784955 50784955 C A SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.2292 p.N764K 1.000 NULL pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 26 0 0.00 32 5 13.51 VEZT 0 genome.wustl.edu 37 12 95611564 95611564 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 95611564 95611564 G A SNP VEZT ENST00000549589 human ensembl 74_37 +1 known rna NULL NULL 0.117 - - - no_errors VEZT HGNC ENSG00000028203 tier1 - - 34 0 0.00 13 4 23.53 VPS18 0 genome.wustl.edu 37 15 41195002 41195002 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 41195002 41195002 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.2385 p.F795 0.983 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 tier1 - - 28 0 0.00 19 7 26.92 VWA9 0 genome.wustl.edu 37 15 65884002 65884002 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 15 65884002 65884002 G T SNP VWA9 ENST00000567744 human ensembl 74_37 -1 known missense c.1162 p.L388I 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 tier1 - - 61 0 0.00 59 4 6.35 VWF 0 genome.wustl.edu 37 12 6219637 6219637 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 6219637 6219637 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.435 p.N145K 0.997 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 20 0 0.00 39 4 9.30 WDR7 0 genome.wustl.edu 37 18 54362387 54362387 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 18 54362387 54362387 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.1315 p.A439S 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 33 0 0.00 30 3 9.09 WDR78 0 genome.wustl.edu 37 1 67288089 67288089 + Silent SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 67288089 67288089 A T SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known silent c.2451 p.S817 0.148 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 tier1 - - 19 0 0.00 11 3 21.43 WDR81 0 genome.wustl.edu 37 17 1637131 1637131 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 1637131 1637131 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known silent c.4800 p.N1600 0.462 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 79 0 0.00 37 39 51.32 WDR96 0 genome.wustl.edu 37 10 105974083 105974083 + Nonsense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 105974083 105974083 G T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known nonsense c.518 p.S173* 1.000 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 21 0 0.00 28 2 6.67 WIPF2 0 genome.wustl.edu 37 17 38430132 38430132 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 17 38430132 38430132 C T SNP WIPF2 ENST00000323571 human ensembl 74_37 +1 known missense c.1061 p.P354L 0.492 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 80 0 0.00 74 4 5.00 YBX3 0 genome.wustl.edu 37 12 10852015 10852015 + RNA SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 12 10852015 10852015 G A SNP YBX3 ENST00000540975 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors YBX3 HGNC ENSG00000060138 tier1 - - 34 0 0.00 51 4 7.27 ZBTB16 0 genome.wustl.edu 37 11 114118002 114118002 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 114118002 114118002 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known silent c.1707 p.T569 0.139 pfscan_Znf_C2H2 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 tier1 - - 29 0 0.00 23 7 23.33 ZBTB16 0 genome.wustl.edu 37 11 114118040 114118040 + Missense_Mutation SNP A A C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 11 114118040 114118040 A C SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1745 p.K582T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 tier1 - - 31 0 0.00 17 11 39.29 ZBTB47 0 genome.wustl.edu 37 3 42701321 42701321 + Splice_Site SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 3 42701321 42701321 G A SNP ZBTB47 ENST00000232974 human ensembl 74_37 +1 known splice_site c.1473+1 e1+1 1.000 - - - no_errors ZBTB47 HGNC ENSG00000114853 tier1 - - 80 0 0.00 39 7 15.22 ZHX1 0 genome.wustl.edu 37 8 124266802 124266802 + Missense_Mutation SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 8 124266802 124266802 G T SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.1385 p.P462H 0.969 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 17 0 0.00 35 2 5.41 ZIC3 0 genome.wustl.edu 37 X 136649852 136649852 + Silent SNP C C A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf X 136649852 136649852 C A SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known silent c.1002 p.G334 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 tier1 - - 17 0 0.00 3 9 75.00 ZNF131 0 genome.wustl.edu 37 5 43175102 43175102 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 5 43175102 43175102 G A SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.1739 p.S580N 0.006 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 tier1 - - 18 0 0.00 9 5 35.71 ZNF17 0 genome.wustl.edu 37 19 57931205 57931205 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 57931205 57931205 G A SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known silent c.345 p.L115 0.862 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 tier1 - - 61 0 0.00 70 4 5.41 ZNF256 0 genome.wustl.edu 37 19 58452838 58452838 + Silent SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 58452838 58452838 C T SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known silent c.1338 p.R446 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ENSG00000152454 tier1 - - 63 0 0.00 54 5 8.47 ZNF429 0 genome.wustl.edu 37 19 21719848 21719848 + Silent SNP T T C TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 21719848 21719848 T C SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel silent c.993 p.H331 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 tier1 - - 28 0 0.00 48 19 28.36 ZNF518A 0 genome.wustl.edu 37 10 97921125 97921125 + RNA DEL T T - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 10 97921125 97921125 T - DEL ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 27 0 0.00 19 2 9.52 ZNF672 0 genome.wustl.edu 37 1 249141662 249141662 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 1 249141662 249141662 G A SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known silent c.189 p.T63 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 27 0 0.00 19 2 9.52 ZNF835 0 genome.wustl.edu 37 19 57175717 57175717 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 19 57175717 57175717 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.850 p.A284T 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 68 0 0.00 78 14 15.05 ZNFX1 0 genome.wustl.edu 37 20 47882796 47882796 + Silent SNP G G T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ba30aa87-f4c3-4a28-991c-710d22fb6c3b bca419df-bf41-4dab-bf70-f3c6c35b1fdf 20 47882796 47882796 G T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known silent c.1878 p.T626 0.986 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 32 0 0.00 47 4 7.84