Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABHD16A 0 genome.wustl.edu 37 6 31670940 31670941 + Frame_Shift_Ins INS - - G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 31670940 31670941 - G INS ABHD16A ENST00000395952 human ensembl 69_37n -1 known frame_shift_ins c.119_118 p.H40fs 0.057:0.115 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 18 0 0.00 21 3 12.50 - - - AHDC1 0 genome.wustl.edu 37 1 27878126 27878126 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 27878126 27878126 G A SNP AHDC1 ENST00000247087 human ensembl 69_37n -1 known silent c.501 p.F167 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 92 0 0.00 16 5 23.81 - - - AHDC1 0 genome.wustl.edu 37 1 27878126 27878126 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 27878126 27878126 G A SNP AHDC1 ENST00000247087 human ensembl 69_37n -1 known silent c.501 p.F167 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 19 0 0.00 16 5 23.81 - - - AHNAK2 0 genome.wustl.edu 37 14 105420827 105420827 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 14 105420827 105420827 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.961 p.R321W 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 14 0 0.00 10 7 38.89 - - - AMBRA1 0 genome.wustl.edu 37 11 46567261 46567261 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 11 46567261 46567261 C T SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known silent c.444 p.T148 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 107 0 0.00 57 42 42.00 - - - AMBRA1 0 genome.wustl.edu 37 11 46567261 46567261 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 11 46567261 46567261 C T SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known silent c.444 p.T148 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 105 0 0.00 57 42 42.00 - - - ANKRD32 0 genome.wustl.edu 37 5 94030568 94030568 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 5 94030568 94030568 G A SNP ANKRD32 ENST00000265140 human ensembl 69_37n +1 known missense c.2728 p.G910R 0.980 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 150 0 0.00 97 51 34.46 - - - ANKRD32 0 genome.wustl.edu 37 5 94030568 94030568 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 5 94030568 94030568 G A SNP ANKRD32 ENST00000265140 human ensembl 69_37n +1 known missense c.2728 p.G910R 0.980 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 72 0 0.00 97 51 34.46 - - - ATG4A 0 genome.wustl.edu 37 X 107381041 107381041 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 X 107381041 107381041 G A SNP ATG4A ENST00000372232 human ensembl 69_37n +1 known missense c.555 p.M185I 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 307 0 0.00 89 59 39.86 - - - ATG4A 0 genome.wustl.edu 37 X 107381041 107381041 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f X 107381041 107381041 G A SNP ATG4A ENST00000372232 human ensembl 69_37n +1 known missense c.555 p.M185I 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 163 0 0.00 89 59 39.86 - - - ATP13A4 0 genome.wustl.edu 37 3 193132430 193132430 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 193132430 193132430 G A SNP ATP13A4 ENST00000342695 human ensembl 69_37n -1 known silent c.2952 p.A984 0.836 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 78 0 0.00 65 8 10.96 - - - ATP13A4 0 genome.wustl.edu 37 3 193132430 193132430 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 193132430 193132430 G A SNP ATP13A4 ENST00000342695 human ensembl 69_37n -1 known silent c.2952 p.A984 0.836 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 98 0 0.00 65 8 10.96 - - - ATP2C1 0 genome.wustl.edu 37 3 130714935 130714935 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 130714935 130714935 C T SNP ATP2C1 ENST00000508660 human ensembl 69_37n +1 putative missense c.659 p.S220L 1.000 tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_ion-transptr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP2C1 HGNC ENSG00000017260 226 0 0.00 104 52 33.12 - - - ATP2C1 0 genome.wustl.edu 37 3 130714935 130714935 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 130714935 130714935 C T SNP ATP2C1 ENST00000508660 human ensembl 69_37n +1 putative missense c.659 p.S220L 1.000 tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_ion-transptr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP2C1 HGNC ENSG00000017260 65 0 0.00 104 52 33.12 - - - BRWD3 0 genome.wustl.edu 37 X 79980464 79980464 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 X 79980464 79980464 G A SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.1489 p.R497W 0.985 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 90 0 0.00 53 32 37.65 - - - BRWD3 0 genome.wustl.edu 37 X 79980464 79980464 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f X 79980464 79980464 G A SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.1489 p.R497W 0.985 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 72 0 0.00 53 32 37.65 - - - C10orf120 0 genome.wustl.edu 37 10 124457516 124457516 + Frame_Shift_Del DEL G G - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 124457516 124457516 G - DEL C10orf120 ENST00000329446 human ensembl 69_37n -1 known frame_shift_del c.741 p.F247fs 1.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 187 0 0.00 119 25 17.24 - - - C10orf120 0 genome.wustl.edu 37 10 124457516 124457516 + Frame_Shift_Del DEL G G - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 124457516 124457516 G - DEL C10orf120 ENST00000329446 human ensembl 69_37n -1 known frame_shift_del c.741 p.F247fs 1.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 154 0 0.00 119 25 17.24 - - - C10orf120 0 genome.wustl.edu 37 10 124457606 124457606 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 124457606 124457606 G A SNP C10orf120 ENST00000329446 human ensembl 69_37n -1 known silent c.651 p.T217 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 156 0 0.00 87 38 30.40 - - - C10orf120 0 genome.wustl.edu 37 10 124457606 124457606 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 124457606 124457606 G A SNP C10orf120 ENST00000329446 human ensembl 69_37n -1 known silent c.651 p.T217 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 137 0 0.00 87 38 30.40 - - - C17orf53 0 genome.wustl.edu 37 17 42230004 42230004 + Splice_Site SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 42230004 42230004 G C SNP C17orf53 ENST00000319977 human ensembl 69_37n +1 known splice_site c.1309-1 e5-1 0.875 - - - no_errors C17orf53 HGNC ENSG00000125319 78 0 0.00 47 24 33.80 - - - C17orf53 0 genome.wustl.edu 37 17 42230004 42230004 + Splice_Site SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 17 42230004 42230004 G C SNP C17orf53 ENST00000319977 human ensembl 69_37n +1 known splice_site c.1309-1 e5-1 0.875 - - - no_errors C17orf53 HGNC ENSG00000125319 119 0 0.00 47 24 33.80 - - - CACNA1G 0 genome.wustl.edu 37 17 48650015 48650015 + Frame_Shift_Del DEL A A - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 48650015 48650015 A - DEL CACNA1G ENST00000359106 human ensembl 69_37n +1 known frame_shift_del c.847 p.R283fs 0.981 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 21 0 0.00 12 14 53.85 - - - CACNA1G 0 genome.wustl.edu 37 17 48650015 48650015 + Frame_Shift_Del DEL A A - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 17 48650015 48650015 A - DEL CACNA1G ENST00000359106 human ensembl 69_37n +1 known frame_shift_del c.847 p.R283fs 0.981 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 29 0 0.00 12 14 53.85 - - - CAMTA1 0 genome.wustl.edu 37 1 7723467 7723467 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 7723467 7723467 C G SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known missense c.860 p.S287W 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 60 0 0.00 7 6 46.15 - - - CAMTA1 0 genome.wustl.edu 37 1 7723467 7723467 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 7723467 7723467 C G SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known missense c.860 p.S287W 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 24 0 0.00 7 6 46.15 - - - CASC4 0 genome.wustl.edu 37 15 44581304 44581304 + Missense_Mutation SNP T T C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 15 44581304 44581304 T C SNP CASC4 ENST00000299957 human ensembl 69_37n +1 known missense c.77 p.V26A 0.988 NULL NULL - no_errors CASC4 HGNC ENSG00000166734 15 0 0.00 22 14 37.84 - - - CCDC62 0 genome.wustl.edu 37 12 123285673 123285673 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 12 123285673 123285673 G C SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known missense c.980 p.R327T 1.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 116 1 0.85 62 27 30.34 - - - CCDC62 0 genome.wustl.edu 37 12 123285673 123285673 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 12 123285673 123285673 G C SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known missense c.980 p.R327T 1.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 78 0 0.00 62 27 30.34 - - - CCDC62 0 genome.wustl.edu 37 12 123285827 123285827 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 12 123285827 123285827 G C SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known missense c.1134 p.E378D 0.351 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 126 0 0.00 68 35 33.98 - - - CCDC62 0 genome.wustl.edu 37 12 123285827 123285827 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 12 123285827 123285827 G C SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known missense c.1134 p.E378D 0.351 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 107 0 0.00 68 35 33.98 - - - CCDC63 0 genome.wustl.edu 37 12 111319049 111319049 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 12 111319049 111319049 G A SNP CCDC63 ENST00000308208 human ensembl 69_37n +1 known missense c.802 p.V268I 0.201 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 56 0 0.00 30 19 38.78 - - - CCDC63 0 genome.wustl.edu 37 12 111319049 111319049 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 12 111319049 111319049 G A SNP CCDC63 ENST00000308208 human ensembl 69_37n +1 known missense c.802 p.V268I 0.201 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 38 0 0.00 30 19 38.78 - - - CCSAP 0 genome.wustl.edu 37 1 229462694 229462694 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 229462694 229462694 C G SNP CCSAP ENST00000284617 human ensembl 69_37n -1 known missense c.427 p.D143H 0.005 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 149 0 0.00 166 34 17.00 - - - CCSAP 0 genome.wustl.edu 37 1 229462694 229462694 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 229462694 229462694 C G SNP CCSAP ENST00000284617 human ensembl 69_37n -1 known missense c.427 p.D143H 0.005 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 188 0 0.00 166 34 17.00 - - - CDC42BPG 0 genome.wustl.edu 37 11 64597214 64597214 + Frame_Shift_Del DEL C C - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 11 64597214 64597214 C - DEL CDC42BPG ENST00000342711 human ensembl 69_37n -1 known frame_shift_del c.3696 p.L1233fs 0.211 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 8 0 0.00 4 3 42.86 - - - CDC42BPG 0 genome.wustl.edu 37 11 64597214 64597214 + Frame_Shift_Del DEL C C - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 11 64597214 64597214 C - DEL CDC42BPG ENST00000342711 human ensembl 69_37n -1 known frame_shift_del c.3696 p.L1233fs 0.211 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 13 0 0.00 4 3 42.86 - - - CNKSR1 0 genome.wustl.edu 37 1 26507066 26507066 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 26507066 26507066 C G SNP CNKSR1 ENST00000374253 human ensembl 69_37n +1 known missense c.175 p.L59V 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 102 0 0.00 52 7 11.48 - - - CNKSR1 0 genome.wustl.edu 37 1 26507066 26507066 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 26507066 26507066 C G SNP CNKSR1 ENST00000374253 human ensembl 69_37n +1 known missense c.175 p.L59V 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 61 0 0.00 52 7 11.48 - - - COL17A1 0 genome.wustl.edu 37 10 105836073 105836073 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 105836073 105836073 C T SNP COL17A1 ENST00000353479 human ensembl 69_37n -1 known missense c.317 p.R106H 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 151 1 0.65 81 45 35.71 - - - COL17A1 0 genome.wustl.edu 37 10 105836073 105836073 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 105836073 105836073 C T SNP COL17A1 ENST00000353479 human ensembl 69_37n -1 known missense c.317 p.R106H 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 88 0 0.00 81 45 35.71 - - - COL3A1 0 genome.wustl.edu 37 2 189872623 189872623 + Nonsense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 189872623 189872623 C T SNP COL3A1 ENST00000304636 human ensembl 69_37n +1 known nonsense c.3376 p.Q1126* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 68 0 0.00 54 43 44.33 - - - COL3A1 0 genome.wustl.edu 37 2 189872623 189872623 + Nonsense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 189872623 189872623 C T SNP COL3A1 ENST00000304636 human ensembl 69_37n +1 known nonsense c.3376 p.Q1126* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 65 0 0.00 54 43 44.33 - - - CSTF2T 0 genome.wustl.edu 37 10 53457893 53457893 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 53457893 53457893 C T SNP CSTF2T ENST00000331173 human ensembl 69_37n -1 known missense c.1417 p.G473S 0.242 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 142 0 0.00 100 61 37.89 - - - CSTF2T 0 genome.wustl.edu 37 10 53457893 53457893 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 53457893 53457893 C T SNP CSTF2T ENST00000331173 human ensembl 69_37n -1 known missense c.1417 p.G473S 0.242 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 91 0 0.00 100 61 37.89 - - - CYP11B1 0 genome.wustl.edu 37 8 143959174 143959174 + Missense_Mutation SNP T T C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 8 143959174 143959174 T C SNP CYP11B1 ENST00000377675 human ensembl 69_37n -1 novel missense c.607 p.R203G 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 34 0 0.00 30 6 16.67 - - - DDX11 0 genome.wustl.edu 37 12 31250875 31250875 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 12 31250875 31250875 G C SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known missense c.1819 p.A607P 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 64 0 0.00 37 8 17.78 - - - DNAH7 0 genome.wustl.edu 37 2 196801373 196801374 + Frame_Shift_Ins INS - - A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 196801373 196801374 - A INS DNAH7 ENST00000312428 human ensembl 69_37n -1 known frame_shift_ins c.3222_3221 p.L1074fs 1.000:1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 230 0 0.00 132 58 30.53 - - - DNAH7 0 genome.wustl.edu 37 2 196801373 196801374 + Frame_Shift_Ins INS - - A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 196801373 196801374 - A INS DNAH7 ENST00000312428 human ensembl 69_37n -1 known frame_shift_ins c.3222_3221 p.L1074fs 1.000:1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 81 0 0.00 132 58 30.53 - - - DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610355 76610356 + RNA INS - - C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 7 76610355 76610356 - C INS DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 69_37n +1 known rna NULL NULL 0.918:0.847 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 34 0 0.00 20 4 16.67 - - - DZANK1 0 genome.wustl.edu 37 20 18374937 18374937 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 20 18374937 18374937 C T SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known missense c.1669 p.E557K 0.140 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 53 0 0.00 27 19 41.30 - - - DZANK1 0 genome.wustl.edu 37 20 18374937 18374937 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 20 18374937 18374937 C T SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known missense c.1669 p.E557K 0.140 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 56 0 0.00 27 19 41.30 - - - ECEL1 0 genome.wustl.edu 37 2 233347143 233347143 + Missense_Mutation SNP T T A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 233347143 233347143 T A SNP ECEL1 ENST00000304546 human ensembl 69_37n -1 known missense c.1781 p.D594V 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 66 0 0.00 11 5 31.25 - - - ECEL1 0 genome.wustl.edu 37 2 233347143 233347143 + Missense_Mutation SNP T T A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 233347143 233347143 T A SNP ECEL1 ENST00000304546 human ensembl 69_37n -1 known missense c.1781 p.D594V 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 22 0 0.00 11 5 31.25 - - - EIF3K 0 genome.wustl.edu 37 19 39110987 39110987 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 19 39110987 39110987 G C SNP EIF3K ENST00000248342 human ensembl 69_37n +1 known missense c.70 p.E24Q 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 79 0 0.00 29 13 30.95 - - - EIF3K 0 genome.wustl.edu 37 19 39110987 39110987 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 19 39110987 39110987 G C SNP EIF3K ENST00000248342 human ensembl 69_37n +1 known missense c.70 p.E24Q 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 58 0 0.00 29 13 30.95 - - - EWSR1 0 genome.wustl.edu 37 22 29693913 29693913 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 22 29693913 29693913 G A SNP EWSR1 ENST00000414183 human ensembl 69_37n +1 known missense c.1406 p.R469K 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 116 0 0.00 88 23 20.72 - - - EWSR1 0 genome.wustl.edu 37 22 29693913 29693913 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 22 29693913 29693913 G A SNP EWSR1 ENST00000414183 human ensembl 69_37n +1 known missense c.1406 p.R469K 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 77 0 0.00 88 23 20.72 - - - FAT4 0 genome.wustl.edu 37 4 126337775 126337775 + Nonsense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 4 126337775 126337775 C G SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known nonsense c.7016 p.S2339* 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 220 0 0.00 91 71 43.83 - - - FAT4 0 genome.wustl.edu 37 4 126337775 126337775 + Nonsense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 4 126337775 126337775 C G SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known nonsense c.7016 p.S2339* 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 204 0 0.00 91 71 43.83 - - - FMN2 0 genome.wustl.edu 37 1 240255687 240255687 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 240255687 240255687 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.278 p.S93F 1.000 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 10 0 0.00 7 7 50.00 - - - FOXA1 0 genome.wustl.edu 37 14 38061461 38061461 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 14 38061461 38061461 G C SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.528 p.I176M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 29 0 0.00 2 7 77.78 - - - FOXA1 0 genome.wustl.edu 37 14 38061461 38061461 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 14 38061461 38061461 G C SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.528 p.I176M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 17 0 0.00 2 7 77.78 - - - FOXD4 0 genome.wustl.edu 37 9 117998 117998 + Missense_Mutation SNP G G T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 9 117998 117998 G T SNP FOXD4 ENST00000382500 human ensembl 69_37n -1 known missense c.122 p.A41E 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 78 0 0.00 33 6 13.33 - - - FSIP2 0 genome.wustl.edu 37 2 186671695 186671695 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 186671695 186671695 G A SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.17929 p.D5977N 0.004 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 163 0 0.00 117 75 39.06 - - - FSIP2 0 genome.wustl.edu 37 2 186671695 186671695 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 186671695 186671695 G A SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.17929 p.D5977N 0.004 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 193 0 0.00 117 75 39.06 - - - GNL3 0 genome.wustl.edu 37 3 52724624 52724624 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 52724624 52724624 G A SNP GNL3 ENST00000418458 human ensembl 69_37n +1 known silent c.558 p.E186 0.999 NULL pfam_Gnl3_N_dom,pfam_GTP_binding_domain - no_errors GNL3 HGNC ENSG00000163938 292 1 0.34 107 57 34.76 - - - GNL3 0 genome.wustl.edu 37 3 52724624 52724624 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 52724624 52724624 G A SNP GNL3 ENST00000418458 human ensembl 69_37n +1 known silent c.558 p.E186 0.999 NULL pfam_Gnl3_N_dom,pfam_GTP_binding_domain - no_errors GNL3 HGNC ENSG00000163938 194 0 0.00 107 57 34.76 - - - GRPR 0 genome.wustl.edu 37 X 16142101 16142101 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 X 16142101 16142101 C G SNP GRPR ENST00000380289 human ensembl 69_37n +1 known missense c.25 p.L9V 0.030 prints_Gastrin_pep_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 569 0 0.00 206 112 35.22 - - - GRPR 0 genome.wustl.edu 37 X 16142101 16142101 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f X 16142101 16142101 C G SNP GRPR ENST00000380289 human ensembl 69_37n +1 known missense c.25 p.L9V 0.030 prints_Gastrin_pep_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 381 0 0.00 206 112 35.22 - - - GSTA1 0 genome.wustl.edu 37 6 52661025 52661025 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 52661025 52661025 G A SNP GSTA1 ENST00000334575 human ensembl 69_37n -1 known missense c.227 p.A76V 0.984 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA1 HGNC ENSG00000243955 386 0 0.00 134 91 40.27 - - - GSTA1 0 genome.wustl.edu 37 6 52661025 52661025 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 52661025 52661025 G A SNP GSTA1 ENST00000334575 human ensembl 69_37n -1 known missense c.227 p.A76V 0.984 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA1 HGNC ENSG00000243955 297 0 0.00 134 91 40.27 - - - GTPBP8 0 genome.wustl.edu 37 3 112710112 112710113 + Frame_Shift_Ins INS - - CG TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 112710112 112710113 - CG INS GTPBP8 ENST00000383678 human ensembl 69_37n +1 known frame_shift_ins c.266_267 p.E89fs 0.000:0.000 NULL pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 46 0 0.00 40 39 49.37 - - - GTPBP8 0 genome.wustl.edu 37 3 112710112 112710113 + Frame_Shift_Ins INS - - CG TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 112710112 112710113 - CG INS GTPBP8 ENST00000383678 human ensembl 69_37n +1 known frame_shift_ins c.266_267 p.E89fs 0.000:0.000 NULL pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 36 0 0.00 40 39 49.37 - - - HIST1H3B 0 genome.wustl.edu 37 6 26031883 26031884 + Frame_Shift_Del DEL CT CT - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 26031883 26031884 CT - DEL HIST1H3B ENST00000244661 human ensembl 69_37n -1 known frame_shift_del c.406_405 p.R135fs 1.000:0.999 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 81 0 0.00 42 29 40.85 - - - HIST1H3B 0 genome.wustl.edu 37 6 26031883 26031884 + Frame_Shift_Del DEL CT CT - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 26031883 26031884 CT - DEL HIST1H3B ENST00000244661 human ensembl 69_37n -1 known frame_shift_del c.406_405 p.R135fs 1.000:0.999 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 75 0 0.00 42 29 40.85 - - - HLA-DRB5 0 genome.wustl.edu 37 6 32489825 32489825 + Missense_Mutation SNP T T A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 32489825 32489825 T A SNP HLA-DRB5 ENST00000374975 human ensembl 69_37n -1 known missense c.227 p.Y76F 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 11 0 0.00 5 4 44.44 - - - HMP19 0 genome.wustl.edu 37 5 173534476 173534476 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 5 173534476 173534476 G A SNP HMP19 ENST00000303177 human ensembl 69_37n +1 known missense c.484 p.E162K 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors HMP19 Clone_based_vega_gene ENSG00000170091 83 0 0.00 20 16 44.44 - - - HMP19 0 genome.wustl.edu 37 5 173534476 173534476 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 5 173534476 173534476 G A SNP HMP19 ENST00000303177 human ensembl 69_37n +1 known missense c.484 p.E162K 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors HMP19 Clone_based_vega_gene ENSG00000170091 29 0 0.00 20 16 44.44 - - - HOXC6 0 genome.wustl.edu 37 12 54422370 54422370 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 12 54422370 54422370 C T SNP HOXC6 ENST00000243108 human ensembl 69_37n +1 known missense c.65 p.P22L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC6 HGNC ENSG00000197757 114 0 0.00 64 11 14.67 - - - HOXC6 0 genome.wustl.edu 37 12 54422370 54422370 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 12 54422370 54422370 C T SNP HOXC6 ENST00000243108 human ensembl 69_37n +1 known missense c.65 p.P22L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC6 HGNC ENSG00000197757 93 0 0.00 64 11 14.67 - - - HSPD1 0 genome.wustl.edu 37 2 198363501 198363501 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 198363501 198363501 C T SNP HSPD1 ENST00000345042 human ensembl 69_37n -1 known silent c.72 p.R24 0.995 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 25 0 0.00 40 13 24.53 - - - HTR3E 0 genome.wustl.edu 37 3 183823927 183823927 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 183823927 183823927 G A SNP HTR3E ENST00000335304 human ensembl 69_37n +1 known missense c.982 p.A328T 0.998 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 136 1 0.72 69 39 35.78 - - - IQCB1 0 genome.wustl.edu 37 3 121527844 121527844 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 121527844 121527844 C G SNP IQCB1 ENST00000310864 human ensembl 69_37n -1 known missense c.406 p.D136H 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 55 0 0.00 49 18 26.87 - - - IQCB1 0 genome.wustl.edu 37 3 121527844 121527844 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 121527844 121527844 C G SNP IQCB1 ENST00000310864 human ensembl 69_37n -1 known missense c.406 p.D136H 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 33 0 0.00 49 18 26.87 - - - IQCC 0 genome.wustl.edu 37 1 32673442 32673443 + Frame_Shift_Ins INS - - G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 32673442 32673443 - G INS IQCC ENST00000537469 human ensembl 69_37n +1 known frame_shift_ins c.1400_1401 p.P470fs 0.258:0.332 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 102 1 0.97 53 6 10.17 - - - IRS4 0 genome.wustl.edu 37 X 107976114 107976114 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 X 107976114 107976114 C G SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.3461 p.G1154A 0.101 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 74 0 0.00 37 15 28.85 - - - IRS4 0 genome.wustl.edu 37 X 107976114 107976114 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f X 107976114 107976114 C G SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.3461 p.G1154A 0.101 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 60 0 0.00 37 15 28.85 - - - ITGA1 0 genome.wustl.edu 37 5 52216230 52216230 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 5 52216230 52216230 G C SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known missense c.2224 p.E742Q 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 115 0 0.00 62 47 43.12 - - - ITGA1 0 genome.wustl.edu 37 5 52216230 52216230 + Missense_Mutation SNP G G C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 5 52216230 52216230 G C SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known missense c.2224 p.E742Q 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 76 0 0.00 62 47 43.12 - - - ITGAX 0 genome.wustl.edu 37 16 31371302 31371302 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 16 31371302 31371302 G A SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known missense c.623 p.R208H 0.000 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 ITGAX HGNC ENSG00000140678 58 0 0.00 23 17 42.50 - - - ITGAX 0 genome.wustl.edu 37 16 31371302 31371302 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 16 31371302 31371302 G A SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known missense c.623 p.R208H 0.000 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 ITGAX HGNC ENSG00000140678 70 0 0.00 23 17 42.50 - - - KANK4 0 genome.wustl.edu 37 1 62738879 62738879 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 62738879 62738879 C T SNP KANK4 ENST00000371153 human ensembl 69_37n -1 known missense c.1897 p.V633M 0.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 30 0 0.00 29 11 27.50 - - - KANK4 0 genome.wustl.edu 37 1 62738879 62738879 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 62738879 62738879 C T SNP KANK4 ENST00000371153 human ensembl 69_37n -1 known missense c.1897 p.V633M 0.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 37 0 0.00 29 11 27.50 - - - KIAA1210 0 genome.wustl.edu 37 X 118284464 118284464 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 X 118284464 118284464 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.79 p.H27Y 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 96 0 0.00 24 14 36.84 - - - KIAA1210 0 genome.wustl.edu 37 X 118284464 118284464 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f X 118284464 118284464 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.79 p.H27Y 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 42 0 0.00 24 14 36.84 - - - KIF21B 0 genome.wustl.edu 37 1 200973964 200973964 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 200973964 200973964 G A SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.830 p.S277L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 51 0 0.00 52 14 21.21 - - - KIF21B 0 genome.wustl.edu 37 1 200973964 200973964 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 200973964 200973964 G A SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.830 p.S277L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 48 0 0.00 52 14 21.21 - - - LAP3 0 genome.wustl.edu 37 4 17585131 17585131 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 4 17585131 17585131 G A SNP LAP3 ENST00000509583 human ensembl 69_37n +1 known missense c.268 p.G90R 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LAP3 HGNC ENSG00000002549 122 0 0.00 96 27 21.95 - - - LAP3 0 genome.wustl.edu 37 4 17585131 17585131 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 4 17585131 17585131 G A SNP LAP3 ENST00000509583 human ensembl 69_37n +1 known missense c.268 p.G90R 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LAP3 HGNC ENSG00000002549 84 0 0.00 96 27 21.95 - - - LCE2D 0 genome.wustl.edu 37 1 152636817 152636817 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 152636817 152636817 G A SNP LCE2D ENST00000368784 human ensembl 69_37n +1 known missense c.236 p.R79H 0.000 NULL NULL - no_errors LCE2D HGNC ENSG00000187223 119 0 0.00 181 36 16.51 - - - LCE2D 0 genome.wustl.edu 37 1 152636817 152636817 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 152636817 152636817 G A SNP LCE2D ENST00000368784 human ensembl 69_37n +1 known missense c.236 p.R79H 0.000 NULL NULL - no_errors LCE2D HGNC ENSG00000187223 56 0 0.00 181 36 16.51 - - - MAMDC2 0 genome.wustl.edu 37 9 72723278 72723278 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 9 72723278 72723278 G A SNP MAMDC2 ENST00000377182 human ensembl 69_37n +1 known silent c.300 p.L100 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 159 0 0.00 70 44 38.60 - - - MAMDC2 0 genome.wustl.edu 37 9 72723278 72723278 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 9 72723278 72723278 G A SNP MAMDC2 ENST00000377182 human ensembl 69_37n +1 known silent c.300 p.L100 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 125 0 0.00 70 44 38.60 - - - MAN1A2 0 genome.wustl.edu 37 1 117944862 117944862 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 117944862 117944862 G A SNP MAN1A2 ENST00000356554 human ensembl 69_37n +1 known silent c.357 p.L119 0.990 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 299 1 0.33 178 108 37.76 - - - MAN1A2 0 genome.wustl.edu 37 1 117944862 117944862 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 117944862 117944862 G A SNP MAN1A2 ENST00000356554 human ensembl 69_37n +1 known silent c.357 p.L119 0.990 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 201 0 0.00 178 108 37.76 - - - MC4R 0 genome.wustl.edu 37 18 58039364 58039364 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 18 58039364 58039364 C T SNP MC4R ENST00000299766 human ensembl 69_37n -1 known silent c.219 p.K73 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 194 0 0.00 99 79 44.38 - - - MC4R 0 genome.wustl.edu 37 18 58039364 58039364 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 18 58039364 58039364 C T SNP MC4R ENST00000299766 human ensembl 69_37n -1 known silent c.219 p.K73 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 212 0 0.00 99 79 44.38 - - - MGMT 0 genome.wustl.edu 37 10 131557478 131557478 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 131557478 131557478 G A SNP MGMT ENST00000306010 human ensembl 69_37n +1 known missense c.380 p.R127K 0.812 pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 62 0 0.00 26 9 25.71 - - - MGMT 0 genome.wustl.edu 37 10 131557478 131557478 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 131557478 131557478 G A SNP MGMT ENST00000306010 human ensembl 69_37n +1 known missense c.380 p.R127K 0.812 pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 23 0 0.00 26 9 25.71 - - - MLL2 0 genome.wustl.edu 37 12 49428419 49428419 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 12 49428419 49428419 G A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.10386 p.L3462 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 50 0 0.00 21 13 38.24 - - - MLL2 0 genome.wustl.edu 37 12 49428419 49428419 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 12 49428419 49428419 G A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.10386 p.L3462 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 54 0 0.00 21 13 38.24 - - - MTA2 0 genome.wustl.edu 37 11 62363528 62363528 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 11 62363528 62363528 C T SNP MTA2 ENST00000278823 human ensembl 69_37n -1 known missense c.1068 p.M356I 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 66 0 0.00 69 36 34.29 - - - MTA2 0 genome.wustl.edu 37 11 62363528 62363528 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 11 62363528 62363528 C T SNP MTA2 ENST00000278823 human ensembl 69_37n -1 known missense c.1068 p.M356I 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 153 1 0.65 69 36 34.29 - - - MUC20 0 genome.wustl.edu 37 3 195452960 195452960 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 195452960 195452960 G A SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1486 p.V496I 0.003 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 49 0 0.00 25 4 13.79 - - - MYH9 0 genome.wustl.edu 37 22 36689510 36689512 + In_Frame_Del DEL CTC CTC - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 22 36689510 36689512 CTC - DEL MYH9 ENST00000216181 human ensembl 69_37n -1 known in_frame_del c.3960_3958 p.E1320in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 57 0 0.00 11 5 29.41 - - - MYH9 0 genome.wustl.edu 37 22 36689510 36689512 + In_Frame_Del DEL CTC CTC - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 22 36689510 36689512 CTC - DEL MYH9 ENST00000216181 human ensembl 69_37n -1 known in_frame_del c.3960_3958 p.E1320in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 34 0 0.00 11 5 29.41 - - - MYO10 0 genome.wustl.edu 37 5 16761623 16761623 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 5 16761623 16761623 C T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known silent c.1689 p.K563 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 102 0 0.00 58 30 34.09 - - - MYO10 0 genome.wustl.edu 37 5 16761623 16761623 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 5 16761623 16761623 C T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known silent c.1689 p.K563 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 56 0 0.00 58 30 34.09 - - - NLRP7 0 genome.wustl.edu 37 19 55450858 55450859 + Frame_Shift_Ins INS - - T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 19 55450858 55450859 - T INS NLRP7 ENST00000446217 human ensembl 69_37n -1 known frame_shift_ins c.1413_1412 p.D472fs 0.000:0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 57 0 0.00 30 44 59.46 - - - NLRP7 0 genome.wustl.edu 37 19 55450858 55450859 + Frame_Shift_Ins INS - - T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 19 55450858 55450859 - T INS NLRP7 ENST00000446217 human ensembl 69_37n -1 known frame_shift_ins c.1413_1412 p.D472fs 0.000:0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 65 0 0.00 30 44 59.46 - - - NPEPPS 0 genome.wustl.edu 37 17 45669359 45669359 + Missense_Mutation SNP T T G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 45669359 45669359 T G SNP NPEPPS ENST00000322157 human ensembl 69_37n +1 known missense c.1298 p.F433C 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 69 0 0.00 48 6 11.11 - - - NRXN3 0 genome.wustl.edu 37 14 79111725 79111725 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 14 79111725 79111725 C T SNP NRXN3 ENST00000553363 human ensembl 69_37n +1 novel missense c.313 p.R105C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NRXN3 HGNC ENSG00000021645 91 0 0.00 47 14 22.58 - - - NRXN3 0 genome.wustl.edu 37 14 79111725 79111725 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 14 79111725 79111725 C T SNP NRXN3 ENST00000553363 human ensembl 69_37n +1 novel missense c.313 p.R105C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NRXN3 HGNC ENSG00000021645 68 0 0.00 47 14 22.58 - - - ORC3 0 genome.wustl.edu 37 6 88313147 88313147 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 88313147 88313147 G A SNP ORC3 ENST00000257789 human ensembl 69_37n +1 known missense c.223 p.E75K 0.997 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 147 0 0.00 67 38 36.19 - - - ORC3 0 genome.wustl.edu 37 6 88313147 88313147 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 88313147 88313147 G A SNP ORC3 ENST00000257789 human ensembl 69_37n +1 known missense c.223 p.E75K 0.997 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 69 0 0.00 67 38 36.19 - - - PDK2 0 genome.wustl.edu 37 17 48174889 48174889 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 48174889 48174889 G A SNP PDK2 ENST00000503176 human ensembl 69_37n +1 known missense c.221 p.R74Q 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK2 HGNC ENSG00000005882 44 0 0.00 12 13 52.00 - - - PDK2 0 genome.wustl.edu 37 17 48174889 48174889 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 17 48174889 48174889 G A SNP PDK2 ENST00000503176 human ensembl 69_37n +1 known missense c.221 p.R74Q 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK2 HGNC ENSG00000005882 48 0 0.00 12 13 52.00 - - - PDZD7 0 genome.wustl.edu 37 10 102783366 102783366 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 102783366 102783366 C G SNP PDZD7 ENST00000370215 human ensembl 69_37n -1 known missense c.369 p.E123D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 35 0 0.00 19 6 24.00 - - - PDZD7 0 genome.wustl.edu 37 10 102783366 102783366 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 102783366 102783366 C G SNP PDZD7 ENST00000370215 human ensembl 69_37n -1 known missense c.369 p.E123D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 59 0 0.00 19 6 24.00 - - - PELP1 0 genome.wustl.edu 37 17 4594696 4594696 + Missense_Mutation SNP T T A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 4594696 4594696 T A SNP PELP1 ENST00000570571 human ensembl 69_37n -1 novel missense c.220 p.T74S 0.955 NULL superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PELP1 HGNC ENSG00000141456 190 0 0.00 56 82 59.42 - - - PELP1 0 genome.wustl.edu 37 17 4594696 4594696 + Missense_Mutation SNP T T A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 17 4594696 4594696 T A SNP PELP1 ENST00000570571 human ensembl 69_37n -1 novel missense c.220 p.T74S 0.955 NULL superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PELP1 HGNC ENSG00000141456 244 0 0.00 56 82 59.42 - - - PI4K2A 0 genome.wustl.edu 37 10 99410715 99410715 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 99410715 99410715 C T SNP PI4K2A ENST00000370631 human ensembl 69_37n +1 known silent c.453 p.F151 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 101 0 0.00 57 28 32.94 - - - PI4K2A 0 genome.wustl.edu 37 10 99410715 99410715 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 99410715 99410715 C T SNP PI4K2A ENST00000370631 human ensembl 69_37n +1 known silent c.453 p.F151 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 85 0 0.00 57 28 32.94 - - - PIK3R5 0 genome.wustl.edu 37 17 8792106 8792107 + Frame_Shift_Ins INS - - G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 8792106 8792107 - G INS PIK3R5 ENST00000447110 human ensembl 69_37n -1 known frame_shift_ins c.998_997 p.D333fs 0.958:0.524 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 34 0 0.00 5 3 37.50 - - - PIK3R5 0 genome.wustl.edu 37 17 8792106 8792107 + Frame_Shift_Ins INS - - G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 17 8792106 8792107 - G INS PIK3R5 ENST00000447110 human ensembl 69_37n -1 known frame_shift_ins c.998_997 p.D333fs 0.958:0.524 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 16 0 0.00 5 3 37.50 - - - POLN 0 genome.wustl.edu 37 4 2172878 2172878 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 4 2172878 2172878 G A SNP POLN ENST00000382865 human ensembl 69_37n -1 known missense c.1405 p.H469Y 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 190 0 0.00 100 52 34.21 - - - POLN 0 genome.wustl.edu 37 4 2172878 2172878 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 4 2172878 2172878 G A SNP POLN ENST00000382865 human ensembl 69_37n -1 known missense c.1405 p.H469Y 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 92 0 0.00 100 52 34.21 - - - PPP1R21 0 genome.wustl.edu 37 2 48722823 48722823 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 48722823 48722823 C T SNP PPP1R21 ENST00000294952 human ensembl 69_37n +1 known silent c.1605 p.L535 0.001 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RR-like - no_errors PPP1R21 HGNC ENSG00000162869 134 0 0.00 53 36 40.45 - - - PPP1R21 0 genome.wustl.edu 37 2 48722823 48722823 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 48722823 48722823 C T SNP PPP1R21 ENST00000294952 human ensembl 69_37n +1 known silent c.1605 p.L535 0.001 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RR-like - no_errors PPP1R21 HGNC ENSG00000162869 71 0 0.00 53 36 40.45 - - - PROX1 0 genome.wustl.edu 37 1 214171121 214171121 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 214171121 214171121 G A SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.1243 p.V415I 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 285 0 0.00 377 81 17.61 - - - PROX1 0 genome.wustl.edu 37 1 214171121 214171121 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 214171121 214171121 G A SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.1243 p.V415I 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 597 0 0.00 377 81 17.61 - - - PRSS55 0 genome.wustl.edu 37 8 10386965 10386966 + Frame_Shift_Ins INS - - T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 8 10386965 10386966 - T INS PRSS55 ENST00000518641 human ensembl 69_37n +1 known frame_shift_ins c.44_45 p.A16fs 0.000:0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRSS55 HGNC ENSG00000184647 115 0 0.00 41 5 10.87 - - - PRSS55 0 genome.wustl.edu 37 8 10386965 10386966 + Frame_Shift_Ins INS - - T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 8 10386965 10386966 - T INS PRSS55 ENST00000518641 human ensembl 69_37n +1 known frame_shift_ins c.44_45 p.A16fs 0.000:0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRSS55 HGNC ENSG00000184647 159 0 0.00 41 5 10.87 - - - PRSS58 0 genome.wustl.edu 37 7 141952311 141952311 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 7 141952311 141952311 C T SNP PRSS58 ENST00000547058 human ensembl 69_37n -1 known missense c.557 p.G186E 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 251 0 0.00 85 40 32.00 - - - PRSS58 0 genome.wustl.edu 37 7 141952311 141952311 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 7 141952311 141952311 C T SNP PRSS58 ENST00000547058 human ensembl 69_37n -1 known missense c.557 p.G186E 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 352 0 0.00 85 40 32.00 - - - RABL2B 0 genome.wustl.edu 37 22 51207261 51207261 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 22 51207261 51207261 C G SNP RABL2B ENST00000354869 human ensembl 69_37n -1 known missense c.633 p.Q211H 0.770 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2B HGNC ENSG00000079974 67 0 0.00 53 12 18.46 - - - RABL2B 0 genome.wustl.edu 37 22 51207261 51207261 + Missense_Mutation SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 22 51207261 51207261 C G SNP RABL2B ENST00000354869 human ensembl 69_37n -1 known missense c.633 p.Q211H 0.770 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2B HGNC ENSG00000079974 74 0 0.00 53 12 18.46 - - - RASSF5 0 genome.wustl.edu 37 1 206730957 206730957 + Frame_Shift_Del DEL A A - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 206730957 206730957 A - DEL RASSF5 ENST00000304534 human ensembl 69_37n +1 known frame_shift_del c.56 p.D20fs 0.992 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF5 HGNC ENSG00000136653 31 0 0.00 36 10 21.74 - - - RASSF5 0 genome.wustl.edu 37 1 206730957 206730957 + Frame_Shift_Del DEL A A - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 206730957 206730957 A - DEL RASSF5 ENST00000304534 human ensembl 69_37n +1 known frame_shift_del c.56 p.D20fs 0.992 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF5 HGNC ENSG00000136653 18 0 0.00 36 10 21.74 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 41 0 0.00 60 10 14.29 - - - RHCG 0 genome.wustl.edu 37 15 90020416 90020416 + Missense_Mutation SNP A A T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 15 90020416 90020416 A T SNP RHCG ENST00000268122 human ensembl 69_37n -1 known missense c.1134 p.F378L 0.404 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 85 0 0.00 28 14 33.33 - - - RHCG 0 genome.wustl.edu 37 15 90020416 90020416 + Missense_Mutation SNP A A T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 15 90020416 90020416 A T SNP RHCG ENST00000268122 human ensembl 69_37n -1 known missense c.1134 p.F378L 0.404 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 63 0 0.00 28 14 33.33 - - - RHPN2 0 genome.wustl.edu 37 19 33470935 33470935 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 19 33470935 33470935 G A SNP RHPN2 ENST00000254260 human ensembl 69_37n -1 known silent c.2028 p.F676 1.000 NULL pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 173 0 0.00 83 51 38.06 - - - RHPN2 0 genome.wustl.edu 37 19 33470935 33470935 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 19 33470935 33470935 G A SNP RHPN2 ENST00000254260 human ensembl 69_37n -1 known silent c.2028 p.F676 1.000 NULL pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 180 0 0.00 83 51 38.06 - - - RNLS 0 genome.wustl.edu 37 10 90341439 90341439 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 10 90341439 90341439 G A SNP RNLS ENST00000331772 human ensembl 69_37n -1 known silent c.252 p.G84 0.002 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 64 0 0.00 24 43 64.18 - - - RNLS 0 genome.wustl.edu 37 10 90341439 90341439 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 10 90341439 90341439 G A SNP RNLS ENST00000331772 human ensembl 69_37n -1 known silent c.252 p.G84 0.002 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 36 0 0.00 24 43 64.18 - - - RNPS1 0 genome.wustl.edu 37 16 2313111 2313111 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 16 2313111 2313111 C T SNP RNPS1 ENST00000301730 human ensembl 69_37n -1 known silent c.405 p.R135 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPS1 HGNC ENSG00000205937 25 0 0.00 14 9 39.13 - - - RNPS1 0 genome.wustl.edu 37 16 2313111 2313111 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 16 2313111 2313111 C T SNP RNPS1 ENST00000301730 human ensembl 69_37n -1 known silent c.405 p.R135 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPS1 HGNC ENSG00000205937 21 0 0.00 14 9 39.13 - - - SEPT10 0 genome.wustl.edu 37 2 110301779 110301779 + Missense_Mutation SNP A A C TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 110301779 110301779 A C SNP SEPT10 ENST00000356688 human ensembl 69_37n -1 putative missense c.1555 p.F519V 0.348 NULL pfam_Cell_div_GTP-bd - no_errors SEPT10 HGNC ENSG00000186522 18 0 0.00 20 12 37.50 - - - SLCO2B1 0 genome.wustl.edu 37 11 74880255 74880255 + Silent SNP G G T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 11 74880255 74880255 G T SNP SLCO2B1 ENST00000289575 human ensembl 69_37n +1 known silent c.486 p.L162 0.136 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 29 0 0.00 2 11 84.62 - - - SLCO2B1 0 genome.wustl.edu 37 11 74880255 74880255 + Silent SNP G G T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 11 74880255 74880255 G T SNP SLCO2B1 ENST00000289575 human ensembl 69_37n +1 known silent c.486 p.L162 0.136 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 88 0 0.00 2 11 84.62 - - - SLIT3 0 genome.wustl.edu 37 5 168310287 168310287 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 5 168310287 168310287 G A SNP SLIT3 ENST00000519560 human ensembl 69_37n -1 known silent c.468 p.I156 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 100 0 0.00 46 6 11.54 - - - SNORD115-20 0 genome.wustl.edu 37 15 25451417 25451417 + RNA SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 15 25451417 25451417 G A SNP SNORD115-20 ENST00000365099 human ensembl 69_37n +1 known rna NULL NULL 0.207 - - - no_errors SNORD115-20 HGNC ENSG00000201969 78 0 0.00 47 16 25.40 - - - SNORD115-20 0 genome.wustl.edu 37 15 25451417 25451417 + RNA SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 15 25451417 25451417 G A SNP SNORD115-20 ENST00000365099 human ensembl 69_37n +1 known rna NULL NULL 0.207 - - - no_errors SNORD115-20 HGNC ENSG00000201969 108 0 0.00 47 16 25.40 - - - SNX5 0 genome.wustl.edu 37 20 17934762 17934762 + Splice_Site SNP C C A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 20 17934762 17934762 C A SNP SNX5 ENST00000377759 human ensembl 69_37n -1 known splice_site c.268-1 e4-1 1.000 - - - no_errors SNX5 HGNC ENSG00000089006 251 0 0.00 173 75 30.12 - - - SNX5 0 genome.wustl.edu 37 20 17934762 17934762 + Splice_Site SNP C C A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 20 17934762 17934762 C A SNP SNX5 ENST00000377759 human ensembl 69_37n -1 known splice_site c.268-1 e4-1 1.000 - - - no_errors SNX5 HGNC ENSG00000089006 246 0 0.00 173 75 30.12 - - - SRGAP2 0 genome.wustl.edu 37 1 206634388 206634388 + Nonsense_Mutation SNP G G T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 206634388 206634388 G T SNP SRGAP2 ENST00000414007 human ensembl 69_37n +1 known nonsense c.2419 p.E807* 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon SRGAP2 HGNC ENSG00000163486 60 0 0.00 107 25 18.94 - - - SSBP3 0 genome.wustl.edu 37 1 54704821 54704821 + Missense_Mutation SNP G G T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 54704821 54704821 G T SNP SSBP3 ENST00000371320 human ensembl 69_37n -1 known missense c.908 p.P303H 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 28 0 0.00 13 6 31.58 - - - SSBP3 0 genome.wustl.edu 37 1 54704821 54704821 + Missense_Mutation SNP G G T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 54704821 54704821 G T SNP SSBP3 ENST00000371320 human ensembl 69_37n -1 known missense c.908 p.P303H 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 11 0 0.00 13 6 31.58 - - - STAM2 0 genome.wustl.edu 37 2 152982824 152982824 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 152982824 152982824 C T SNP STAM2 ENST00000263904 human ensembl 69_37n -1 known silent c.1095 p.V365 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 74 0 0.00 27 9 25.00 - - - STAM2 0 genome.wustl.edu 37 2 152982824 152982824 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 152982824 152982824 C T SNP STAM2 ENST00000263904 human ensembl 69_37n -1 known silent c.1095 p.V365 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 23 0 0.00 27 9 25.00 - - - SYNE2 0 genome.wustl.edu 37 14 64457239 64457239 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 14 64457239 64457239 C T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.2424 p.L808 0.094 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 321 0 0.00 127 66 34.20 - - - SYNE2 0 genome.wustl.edu 37 14 64457239 64457239 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 14 64457239 64457239 C T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.2424 p.L808 0.094 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 178 0 0.00 127 66 34.20 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 34 0 0.00 50 10 16.67 - - - TEKT3 0 genome.wustl.edu 37 17 15234729 15234729 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 17 15234729 15234729 G A SNP TEKT3 ENST00000338696 human ensembl 69_37n -1 known silent c.174 p.V58 0.005 NULL pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 246 0 0.00 135 17 11.18 - - - TEKT3 0 genome.wustl.edu 37 17 15234729 15234729 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 17 15234729 15234729 G A SNP TEKT3 ENST00000338696 human ensembl 69_37n -1 known silent c.174 p.V58 0.005 NULL pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 358 1 0.28 135 17 11.18 - - - TFAP4 0 genome.wustl.edu 37 16 4310234 4310234 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 16 4310234 4310234 G A SNP TFAP4 ENST00000204517 human ensembl 69_37n -1 known missense c.679 p.P227S 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFAP4 HGNC ENSG00000090447 21 0 0.00 16 4 20.00 - - - TINAG 0 genome.wustl.edu 37 6 54173424 54173424 + Nonsense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 54173424 54173424 C T SNP TINAG ENST00000259782 human ensembl 69_37n +1 known nonsense c.76 p.Q26* 0.004 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 589 0 0.00 348 188 35.07 - - - TINAG 0 genome.wustl.edu 37 6 54173424 54173424 + Nonsense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 54173424 54173424 C T SNP TINAG ENST00000259782 human ensembl 69_37n +1 known nonsense c.76 p.Q26* 0.004 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 493 0 0.00 348 188 35.07 - - - TOX4 0 genome.wustl.edu 37 14 21964747 21964747 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 14 21964747 21964747 G A SNP TOX4 ENST00000262709 human ensembl 69_37n +1 known missense c.1849 p.V617M 0.998 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 96 0 0.00 58 41 41.41 - - - TOX4 0 genome.wustl.edu 37 14 21964747 21964747 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 14 21964747 21964747 G A SNP TOX4 ENST00000262709 human ensembl 69_37n +1 known missense c.1849 p.V617M 0.998 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 57 0 0.00 58 41 41.41 - - - TRABD2A 0 genome.wustl.edu 37 2 85051114 85051114 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 2 85051114 85051114 G A SNP TRABD2A ENST00000409520 human ensembl 69_37n -1 known missense c.1297 p.R433W 0.001 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 44 0 0.00 11 15 57.69 - - - TRABD2A 0 genome.wustl.edu 37 2 85051114 85051114 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 2 85051114 85051114 G A SNP TRABD2A ENST00000409520 human ensembl 69_37n -1 known missense c.1297 p.R433W 0.001 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 37 0 0.00 11 15 57.69 - - - TUFT1 0 genome.wustl.edu 37 1 151536442 151536442 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 151536442 151536442 G A SNP TUFT1 ENST00000538902 human ensembl 69_37n +1 known silent c.357 p.K119 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 108 0 0.00 178 33 15.57 - - - TUFT1 0 genome.wustl.edu 37 1 151536442 151536442 + Silent SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 151536442 151536442 G A SNP TUFT1 ENST00000538902 human ensembl 69_37n +1 known silent c.357 p.K119 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 65 0 0.00 178 33 15.57 - - - TXN 0 genome.wustl.edu 37 9 113006463 113006463 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 9 113006463 113006463 C T SNP TXN ENST00000374517 human ensembl 69_37n -1 known missense c.292 p.E98K 1.000 pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TXN HGNC ENSG00000136810 42 0 0.00 17 9 34.62 - - - UBP1 0 genome.wustl.edu 37 3 33434910 33434910 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 3 33434910 33434910 G A SNP UBP1 ENST00000283628 human ensembl 69_37n -1 known missense c.1427 p.S476L 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors UBP1 HGNC ENSG00000153560 125 0 0.00 65 27 29.35 - - - UBP1 0 genome.wustl.edu 37 3 33434910 33434910 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 3 33434910 33434910 G A SNP UBP1 ENST00000283628 human ensembl 69_37n -1 known missense c.1427 p.S476L 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors UBP1 HGNC ENSG00000153560 59 0 0.00 65 27 29.35 - - - UBR5 0 genome.wustl.edu 37 8 103274157 103274157 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 8 103274157 103274157 C T SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.7828 p.E2610K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 267 0 0.00 123 41 25.00 - - - UBR5 0 genome.wustl.edu 37 8 103274157 103274157 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 8 103274157 103274157 C T SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.7828 p.E2610K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 122 1 0.81 123 41 25.00 - - - UTRN 0 genome.wustl.edu 37 6 144784000 144784000 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 144784000 144784000 G A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.3064 p.E1022K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 131 0 0.00 68 44 39.29 - - - UTRN 0 genome.wustl.edu 37 6 144784000 144784000 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 144784000 144784000 G A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.3064 p.E1022K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 93 0 0.00 68 44 39.29 - - - VPS13B 0 genome.wustl.edu 37 8 100205158 100205158 + Silent SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 8 100205158 100205158 C G SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known silent c.2388 p.L796 0.999 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 272 0 0.00 122 57 31.84 - - - VPS13B 0 genome.wustl.edu 37 8 100205158 100205158 + Silent SNP C C G TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 8 100205158 100205158 C G SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known silent c.2388 p.L796 0.999 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 121 0 0.00 122 57 31.84 - - - WNT3A 0 genome.wustl.edu 37 1 228210498 228210498 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 1 228210498 228210498 G A SNP WNT3A ENST00000366753 human ensembl 69_37n +1 known missense c.202 p.E68K 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 24 0 0.00 48 8 14.29 - - - WNT3A 0 genome.wustl.edu 37 1 228210498 228210498 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 1 228210498 228210498 G A SNP WNT3A ENST00000366753 human ensembl 69_37n +1 known missense c.202 p.E68K 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 34 0 0.00 48 8 14.29 - - - ZBTB10 0 genome.wustl.edu 37 8 81399907 81399907 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 8 81399907 81399907 C T SNP ZBTB10 ENST00000426744 human ensembl 69_37n +1 known missense c.862 p.P288S 0.989 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 ZBTB10 HGNC ENSG00000205189 41 0 0.00 17 12 41.38 - - - ZBTB10 0 genome.wustl.edu 37 8 81399907 81399907 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 8 81399907 81399907 C T SNP ZBTB10 ENST00000426744 human ensembl 69_37n +1 known missense c.862 p.P288S 0.989 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 ZBTB10 HGNC ENSG00000205189 19 0 0.00 17 12 41.38 - - - ZDHHC1 0 genome.wustl.edu 37 16 67432162 67432162 + Frame_Shift_Del DEL C C - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 16 67432162 67432162 C - DEL ZDHHC1 ENST00000348579 human ensembl 69_37n -1 known frame_shift_del c.880 p.V294fs 0.878 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 49 0 0.00 4 2 33.33 - - - ZDHHC1 0 genome.wustl.edu 37 16 67432162 67432162 + Frame_Shift_Del DEL C C - TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 16 67432162 67432162 C - DEL ZDHHC1 ENST00000348579 human ensembl 69_37n -1 known frame_shift_del c.880 p.V294fs 0.878 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 12 0 0.00 4 2 33.33 - - - ZFAND1 0 genome.wustl.edu 37 8 82629498 82629498 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 8 82629498 82629498 G A SNP ZFAND1 ENST00000220669 human ensembl 69_37n -1 known missense c.124 p.H42Y 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 170 0 0.00 103 47 31.33 - - - ZFAND1 0 genome.wustl.edu 37 8 82629498 82629498 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 8 82629498 82629498 G A SNP ZFAND1 ENST00000220669 human ensembl 69_37n -1 known missense c.124 p.H42Y 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 73 0 0.00 103 47 31.33 - - - ZNFX1 0 genome.wustl.edu 37 20 47864113 47864113 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 20 47864113 47864113 C T SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known silent c.5448 p.L1816 0.997 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 137 0 0.00 98 11 10.09 - - - ZNFX1 0 genome.wustl.edu 37 20 47864113 47864113 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 20 47864113 47864113 C T SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known silent c.5448 p.L1816 0.997 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 184 0 0.00 98 11 10.09 - - - ZSCAN16 0 genome.wustl.edu 37 6 28093465 28093465 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 2765bf65-94df-4c9a-91c2-0bb653729c02 6 28093465 28093465 G A SNP ZSCAN16 ENST00000340487 human ensembl 69_37n +1 known missense c.244 p.D82N 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 261 0 0.00 118 85 41.87 - - - ZSCAN16 0 genome.wustl.edu 37 6 28093465 28093465 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-11A-11W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fe131f38-d0a6-446b-831f-6f1f9e382594 4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f 6 28093465 28093465 G A SNP ZSCAN16 ENST00000340487 human ensembl 69_37n +1 known missense c.244 p.D82N 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 246 0 0.00 118 85 41.87 - - -