Tumor_Sample_Barcode Chromosome Start_Position End_Position Reference_Allele Tumor_Seq_Allele2 Hugo_Symbol Variant_Classification tx exon txChange aaChange Variant_Type Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene cytoBand ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS avsnp147 SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred PROVEAN_score PROVEAN_pred VEST3_score CADD_raw CADD_phred DANN_score fathmm-MKL_coding_score fathmm-MKL_coding_pred MetaSVM_score MetaSVM_pred MetaLR_score MetaLR_pred integrated_fitCons_score integrated_confidence_value GERP++_RS phyloP7way_vertebrate phyloP20way_mammalian phastCons7way_vertebrate phastCons20way_mammalian SiPhy_29way_logOdds Otherinfo V56 V57 V58 V59 V60 V61 V62 V63 V64 V65 V66 V67 V68 all chr21 10454228 10454228 A G BAGE3 Missense_Mutation NM_182481 exon3 c.A211G p.T71A SNP exonic BAGE3 . nonsynonymous SNV BAGE3:NM_182481:exon3:c.A211G:p.T71A 21p11.2 . . . . . . . . rs2775344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 140 chr21 10454228 . A G . haplotype;normal_artifact;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=98,98|0,6;DP=209;ECNT=2;GERMQ=93;MBQ=32,33;MFRL=192,164;MMQ=50,34;MPOS=2;NALOD=-1.053e+00;NLOD=11.15;POPAF=6.00;TLOD=8.29 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:61,1:0.037:62:23,1:34,0:0|1:10454228_A_G:10454228:34,27,0,1 0|1:135,5:0.048:140:55,3:70,2:0|1:10454228_A_G:10454228:64,71,0,5 all chr21 10454228 10454228 A G BAGE3 Missense_Mutation NM_182481 exon3 c.A211G p.T71A SNP exonic BAGE3 . nonsynonymous SNV BAGE3:NM_182481:exon3:c.A211G:p.T71A 21p11.2 . . . . . . . . rs2775344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 140 chr21 10454228 . A G . haplotype;normal_artifact;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=98,98|0,6;DP=209;ECNT=2;GERMQ=93;MBQ=32,33;MFRL=192,164;MMQ=50,34;MPOS=2;NALOD=-1.053e+00;NLOD=11.15;POPAF=6.00;TLOD=8.29 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:61,1:0.037:62:23,1:34,0:0|1:10454228_A_G:10454228:34,27,0,1 0|1:135,5:0.048:140:55,3:70,2:0|1:10454228_A_G:10454228:64,71,0,5 all chr21 10454230 10454230 A T BAGE3 Silent NM_182481 exon3 c.A213T p.T71T SNP exonic BAGE3 . synonymous SNV BAGE3:NM_182481:exon3:c.A213T:p.T71T 21p11.2 . . . . . . . . rs2775343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 140 chr21 10454230 . A T . haplotype;normal_artifact;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=98,98|0,6;DP=203;ECNT=2;GERMQ=93;MBQ=33,30;MFRL=192,164;MMQ=50,34;MPOS=2;NALOD=-1.056e+00;NLOD=11.15;POPAF=6.00;TLOD=8.29 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:61,1:0.037:62:22,1:32,0:0|1:10454228_A_G:10454228:34,27,0,1 0|1:135,5:0.048:140:57,1:72,1:0|1:10454228_A_G:10454228:64,71,0,5 all chr21 10454230 10454230 A T BAGE3 Silent NM_182481 exon3 c.A213T p.T71T SNP exonic BAGE3 . synonymous SNV BAGE3:NM_182481:exon3:c.A213T:p.T71T 21p11.2 . . . . . . . . rs2775343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 140 chr21 10454230 . A T . haplotype;normal_artifact;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=98,98|0,6;DP=203;ECNT=2;GERMQ=93;MBQ=33,30;MFRL=192,164;MMQ=50,34;MPOS=2;NALOD=-1.056e+00;NLOD=11.15;POPAF=6.00;TLOD=8.29 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:61,1:0.037:62:22,1:32,0:0|1:10454228_A_G:10454228:34,27,0,1 0|1:135,5:0.048:140:57,1:72,1:0|1:10454228_A_G:10454228:64,71,0,5 all chr21 10567753 10567753 T - TPTE Frame_Shift_Del NM_001290224 exon6 c.116delT p.F41Lfs*25 SNP exonic TPTE . frameshift deletion TPTE:NM_001290224:exon6:c.116delT:p.F41Lfs*25,TPTE:NM_199260:exon9:c.416delT:p.F141Lfs*25,TPTE:NM_199259:exon10:c.476delT:p.F161Lfs*25,TPTE:NM_199261:exon11:c.530delT:p.F179Lfs*25;TPTE:NM_001290224:exon6:c.116delT:p.F41Lfs*25,TPTE:NM_199260:exon9:c.416delT:p.F141Lfs*25,TPTE:NM_199259:exon10:c.476delT:p.F161Lfs*25,TPTE:NM_199261:exon11:c.530delT:p.F179Lfs*25 21p11.2 . . . . . . . . rs762836854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 932 chr21 10567752 . AT A . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=602,615|14,13;DP=1412;ECNT=1;GERMQ=93;MBQ=32,36;MFRL=177,204;MMQ=60,60;MPOS=26;NALOD=-2.453e+00;NLOD=63.14;POPAF=6.00;RPA=8,7;RU=T;STR;STRQ=1;TLOD=12.66 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:305,7:0.023:312:143,5:154,2:155,150,2,5 0/1:912,20:0.022:932:428,12:446,7:447,465,12,8 all chr21 10567753 10567753 T - TPTE Frame_Shift_Del NM_001290224 exon6 c.116delT p.F41Lfs*25 SNP exonic TPTE . frameshift deletion TPTE:NM_001290224:exon6:c.116delT:p.F41Lfs*25,TPTE:NM_199260:exon9:c.416delT:p.F141Lfs*25,TPTE:NM_199259:exon10:c.476delT:p.F161Lfs*25,TPTE:NM_199261:exon11:c.530delT:p.F179Lfs*25;TPTE:NM_001290224:exon6:c.116delT:p.F41Lfs*25,TPTE:NM_199260:exon9:c.416delT:p.F141Lfs*25,TPTE:NM_199259:exon10:c.476delT:p.F161Lfs*25,TPTE:NM_199261:exon11:c.530delT:p.F179Lfs*25 21p11.2 . . . . . . . . rs762836854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 932 chr21 10567752 . AT A . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=602,615|14,13;DP=1412;ECNT=1;GERMQ=93;MBQ=32,36;MFRL=177,204;MMQ=60,60;MPOS=26;NALOD=-2.453e+00;NLOD=63.14;POPAF=6.00;RPA=8,7;RU=T;STR;STRQ=1;TLOD=12.66 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:305,7:0.023:312:143,5:154,2:155,150,2,5 0/1:912,20:0.022:932:428,12:446,7:447,465,12,8 all chr21 26021866 26021868 GTG - APP In_Frame_Del NM_001136129 exon5 c.669_671del p.T224Efs*416 DEL exonic APP . nonframeshift deletion APP:NM_001136129:exon5:c.669_671del:p.T224Efs*416,APP:NM_001136130:exon5:c.669_671del:p.T224Efs*491,APP:NM_000484:exon6:c.837_839del:p.T280Efs*491,APP:NM_001136016:exon6:c.822_824del:p.T275Efs*472,APP:NM_001136131:exon6:c.732_734del:p.T245Efs*416,APP:NM_001204301:exon6:c.837_839del:p.T280Efs*473,APP:NM_001204302:exon6:c.837_839del:p.T280Efs*454,APP:NM_001204303:exon6:c.837_839del:p.T280Efs*398,APP:NM_001385253:exon6:c.837_839del:p.T280Efs*435,APP:NM_201413:exon6:c.837_839del:p.T280Efs*472,APP:NM_201414:exon6:c.837_839del:p.T280Efs*416;APP:NM_001136129:exon5:c.669_671del:p.T224Efs*416,APP:NM_001136130:exon5:c.669_671del:p.T224Efs*491,APP:NM_000484:exon6:c.837_839del:p.T280Efs*491,APP:NM_001136016:exon6:c.822_824del:p.T275Efs*472,APP:NM_001136131:exon6:c.732_734del:p.T245Efs*416,APP:NM_001204301:exon6:c.837_839del:p.T280Efs*473,APP:NM_001204302:exon6:c.837_839del:p.T280Efs*454,APP:NM_001204303:exon6:c.837_839del:p.T280Efs*398,APP:NM_001385253:exon6:c.837_839del:p.T280Efs*435,APP:NM_201413:exon6:c.837_839del:p.T280Efs*472,APP:NM_201414:exon6:c.837_839del:p.T280Efs*416 21q21.3 0.0023 0.0018 0.0030 0.0027 0.0014 0.0021 0.0057 0.0029 rs764406483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 51 chr21 26021865 . TGTG T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=47,13|3,0;DP=71;ECNT=1;GERMQ=93;MBQ=35,40;MFRL=199,181;MMQ=60,60;MPOS=23;NALOD=1.16;NLOD=3.26;POPAF=6.00;RPA=7,6;RU=GTG;STR;STRQ=1;TLOD=5.94 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,0:0.067:12:8,0:3,0:9,3,0,0 0/1:48,3:0.084:51:24,3:21,0:38,10,3,0 all chr21 26021866 26021868 GTG - APP In_Frame_Del NM_001136129 exon5 c.669_671del p.T224Efs*416 DEL exonic APP . nonframeshift deletion APP:NM_001136129:exon5:c.669_671del:p.T224Efs*416,APP:NM_001136130:exon5:c.669_671del:p.T224Efs*491,APP:NM_000484:exon6:c.837_839del:p.T280Efs*491,APP:NM_001136016:exon6:c.822_824del:p.T275Efs*472,APP:NM_001136131:exon6:c.732_734del:p.T245Efs*416,APP:NM_001204301:exon6:c.837_839del:p.T280Efs*473,APP:NM_001204302:exon6:c.837_839del:p.T280Efs*454,APP:NM_001204303:exon6:c.837_839del:p.T280Efs*398,APP:NM_001385253:exon6:c.837_839del:p.T280Efs*435,APP:NM_201413:exon6:c.837_839del:p.T280Efs*472,APP:NM_201414:exon6:c.837_839del:p.T280Efs*416;APP:NM_001136129:exon5:c.669_671del:p.T224Efs*416,APP:NM_001136130:exon5:c.669_671del:p.T224Efs*491,APP:NM_000484:exon6:c.837_839del:p.T280Efs*491,APP:NM_001136016:exon6:c.822_824del:p.T275Efs*472,APP:NM_001136131:exon6:c.732_734del:p.T245Efs*416,APP:NM_001204301:exon6:c.837_839del:p.T280Efs*473,APP:NM_001204302:exon6:c.837_839del:p.T280Efs*454,APP:NM_001204303:exon6:c.837_839del:p.T280Efs*398,APP:NM_001385253:exon6:c.837_839del:p.T280Efs*435,APP:NM_201413:exon6:c.837_839del:p.T280Efs*472,APP:NM_201414:exon6:c.837_839del:p.T280Efs*416 21q21.3 0.0023 0.0018 0.0030 0.0027 0.0014 0.0021 0.0057 0.0029 rs764406483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 51 chr21 26021865 . TGTG T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=47,13|3,0;DP=71;ECNT=1;GERMQ=93;MBQ=35,40;MFRL=199,181;MMQ=60,60;MPOS=23;NALOD=1.16;NLOD=3.26;POPAF=6.00;RPA=7,6;RU=GTG;STR;STRQ=1;TLOD=5.94 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,0:0.067:12:8,0:3,0:9,3,0,0 0/1:48,3:0.084:51:24,3:21,0:38,10,3,0 all chr21 26837914 26837914 C A ADAMTS1 Missense_Mutation NM_006988 exon9 c.G2569T p.A857S SNP exonic ADAMTS1 . nonsynonymous SNV ADAMTS1:NM_006988:exon9:c.G2569T:p.A857S 21q21.3 . . . . . . . . . 0.472 T 0.001 B 0.003 B . . 0.975 N -0.135 N 0.19 T 0.69 N 0.187 1.372 12.64 0.708 0.950 D -1.117 T 0.101 T 0.722 0 5.45 0.871 0.892 0.414 0.916 19.471 0.25 . 108 chr21 26837914 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=71,76|1,3;DP=154;ECNT=1;GERMQ=93;MBQ=34,30;MFRL=205,218;MMQ=60,60;MPOS=31;NALOD=1.58;NLOD=11.09;POPAF=6.00;TLOD=6.79 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:43,0:0.025:43:26,0:16,0:22,21,0,0 0/1:104,4:0.041:108:49,0:52,4:49,55,1,3 all chr21 26837914 26837914 C A ADAMTS1 Missense_Mutation NM_006988 exon9 c.G2569T p.A857S SNP exonic ADAMTS1 . nonsynonymous SNV ADAMTS1:NM_006988:exon9:c.G2569T:p.A857S 21q21.3 . . . . . . . . . 0.472 T 0.001 B 0.003 B . . 0.975 N -0.135 N 0.19 T 0.69 N 0.187 1.372 12.64 0.708 0.950 D -1.117 T 0.101 T 0.722 0 5.45 0.871 0.892 0.414 0.916 19.471 0.25 . 108 chr21 26837914 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=71,76|1,3;DP=154;ECNT=1;GERMQ=93;MBQ=34,30;MFRL=205,218;MMQ=60,60;MPOS=31;NALOD=1.58;NLOD=11.09;POPAF=6.00;TLOD=6.79 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:43,0:0.025:43:26,0:16,0:22,21,0,0 0/1:104,4:0.041:108:49,0:52,4:49,55,1,3 all chr21 30319656 30319656 G T KRTAP26-1 Missense_Mutation NM_203405 exon1 c.C380A p.P127Q SNP exonic KRTAP26-1 . nonsynonymous SNV KRTAP26-1:NM_203405:exon1:c.C380A:p.P127Q 21q22.11 . . . . . . . . . 0.121 T 0.895 P 0.637 P 0.065 U 1 N 0.69 N 4.01 T -1.19 N 0.335 1.561 13.64 0.873 0.026 N -0.977 T 0.016 T 0.487 0 1.06 -0.112 0.077 0.000 0.000 7.755 0.25 . 103 chr21 30319656 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=44,91|0,3;DP=146;ECNT=1;GERMQ=93;MBQ=33,40;MFRL=205,165;MMQ=60,60;MPOS=32;NALOD=1.57;NLOD=10.39;POPAF=6.00;TLOD=5.57 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:35,0:0.026:35:17,0:15,0:6,29,0,0 0/1:100,3:0.042:103:55,3:40,0:38,62,0,3 all chr21 30319656 30319656 G T KRTAP26-1 Missense_Mutation NM_203405 exon1 c.C380A p.P127Q SNP exonic KRTAP26-1 . nonsynonymous SNV KRTAP26-1:NM_203405:exon1:c.C380A:p.P127Q 21q22.11 . . . . . . . . . 0.121 T 0.895 P 0.637 P 0.065 U 1 N 0.69 N 4.01 T -1.19 N 0.335 1.561 13.64 0.873 0.026 N -0.977 T 0.016 T 0.487 0 1.06 -0.112 0.077 0.000 0.000 7.755 0.25 . 103 chr21 30319656 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=44,91|0,3;DP=146;ECNT=1;GERMQ=93;MBQ=33,40;MFRL=205,165;MMQ=60,60;MPOS=32;NALOD=1.57;NLOD=10.39;POPAF=6.00;TLOD=5.57 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:35,0:0.026:35:17,0:15,0:6,29,0,0 0/1:100,3:0.042:103:55,3:40,0:38,62,0,3 all chr21 31120672 31120672 G T TIAM1 Missense_Mutation NM_001353684 exon13 c.C1571A p.A524D SNP exonic TIAM1 . nonsynonymous SNV TIAM1:NM_001353684:exon13:c.C1571A:p.A524D,TIAM1:NM_001353685:exon13:c.C1496A:p.A499D,TIAM1:NM_001353687:exon27:c.C4397A:p.A1466D,TIAM1:NM_001353686:exon28:c.C4397A:p.A1466D,TIAM1:NM_001353690:exon28:c.C4472A:p.A1491D,TIAM1:NM_001353692:exon28:c.C4472A:p.A1491D,TIAM1:NM_001353694:exon28:c.C4472A:p.A1491D,TIAM1:NM_001353689:exon29:c.C4472A:p.A1491D,TIAM1:NM_001353693:exon29:c.C4472A:p.A1491D,TIAM1:NM_003253:exon29:c.C4472A:p.A1491D,TIAM1:NM_001353688:exon30:c.C4472A:p.A1491D,TIAM1:NM_001353691:exon30:c.C4472A:p.A1491D 21q22.11 . . . . . . . . . 0.019 D 0.082 B 0.058 B 0.000 D 0.999 D 1.5 L 0.96 T -0.45 N 0.574 2.907 21.9 0.996 0.837 D -0.984 T 0.111 T 0.758 0 5.14 0.917 1.048 1.000 1.000 15.050 0.25 . 47 chr21 31120672 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=35,25|2,0;DP=63;ECNT=1;GERMQ=93;MBQ=34,39;MFRL=219,188;MMQ=60,60;MPOS=9;NALOD=1.20;NLOD=4.51;POPAF=6.00;TLOD=4.15 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.059:15:8,0:7,0:9,6,0,0 0/1:45,2:0.072:47:23,2:18,0:26,19,2,0 all chr21 31120672 31120672 G T TIAM1 Missense_Mutation NM_001353684 exon13 c.C1571A p.A524D SNP exonic TIAM1 . nonsynonymous SNV TIAM1:NM_001353684:exon13:c.C1571A:p.A524D,TIAM1:NM_001353685:exon13:c.C1496A:p.A499D,TIAM1:NM_001353687:exon27:c.C4397A:p.A1466D,TIAM1:NM_001353686:exon28:c.C4397A:p.A1466D,TIAM1:NM_001353690:exon28:c.C4472A:p.A1491D,TIAM1:NM_001353692:exon28:c.C4472A:p.A1491D,TIAM1:NM_001353694:exon28:c.C4472A:p.A1491D,TIAM1:NM_001353689:exon29:c.C4472A:p.A1491D,TIAM1:NM_001353693:exon29:c.C4472A:p.A1491D,TIAM1:NM_003253:exon29:c.C4472A:p.A1491D,TIAM1:NM_001353688:exon30:c.C4472A:p.A1491D,TIAM1:NM_001353691:exon30:c.C4472A:p.A1491D 21q22.11 . . . . . . . . . 0.019 D 0.082 B 0.058 B 0.000 D 0.999 D 1.5 L 0.96 T -0.45 N 0.574 2.907 21.9 0.996 0.837 D -0.984 T 0.111 T 0.758 0 5.14 0.917 1.048 1.000 1.000 15.050 0.25 . 47 chr21 31120672 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=35,25|2,0;DP=63;ECNT=1;GERMQ=93;MBQ=34,39;MFRL=219,188;MMQ=60,60;MPOS=9;NALOD=1.20;NLOD=4.51;POPAF=6.00;TLOD=4.15 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.059:15:8,0:7,0:9,6,0,0 0/1:45,2:0.072:47:23,2:18,0:26,19,2,0 all chr21 31154313 31154313 G T TIAM1 Silent NM_001353684 exon2 c.C204A p.L68L SNP exonic TIAM1 . synonymous SNV TIAM1:NM_001353684:exon2:c.C204A:p.L68L,TIAM1:NM_001353685:exon2:c.C129A:p.L43L,TIAM1:NM_001353687:exon16:c.C3030A:p.L1010L,TIAM1:NM_001353686:exon17:c.C3030A:p.L1010L,TIAM1:NM_001353690:exon17:c.C3105A:p.L1035L,TIAM1:NM_001353692:exon17:c.C3105A:p.L1035L,TIAM1:NM_001353694:exon17:c.C3105A:p.L1035L,TIAM1:NM_001353689:exon18:c.C3105A:p.L1035L,TIAM1:NM_001353693:exon18:c.C3105A:p.L1035L,TIAM1:NM_003253:exon18:c.C3105A:p.L1035L,TIAM1:NM_001353688:exon19:c.C3105A:p.L1035L,TIAM1:NM_001353691:exon19:c.C3105A:p.L1035L 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 47 chr21 31154313 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=36,20|0,2;DP=58;ECNT=1;GERMQ=93;MBQ=35,40;MFRL=191,140;MMQ=60,60;MPOS=33;NALOD=1.04;NLOD=2.96;POPAF=6.00;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.084:11:7,0:3,0:8,3,0,0 0/1:45,2:0.065:47:22,2:22,0:28,17,0,2 all chr21 31154313 31154313 G T TIAM1 Silent NM_001353684 exon2 c.C204A p.L68L SNP exonic TIAM1 . synonymous SNV TIAM1:NM_001353684:exon2:c.C204A:p.L68L,TIAM1:NM_001353685:exon2:c.C129A:p.L43L,TIAM1:NM_001353687:exon16:c.C3030A:p.L1010L,TIAM1:NM_001353686:exon17:c.C3030A:p.L1010L,TIAM1:NM_001353690:exon17:c.C3105A:p.L1035L,TIAM1:NM_001353692:exon17:c.C3105A:p.L1035L,TIAM1:NM_001353694:exon17:c.C3105A:p.L1035L,TIAM1:NM_001353689:exon18:c.C3105A:p.L1035L,TIAM1:NM_001353693:exon18:c.C3105A:p.L1035L,TIAM1:NM_003253:exon18:c.C3105A:p.L1035L,TIAM1:NM_001353688:exon19:c.C3105A:p.L1035L,TIAM1:NM_001353691:exon19:c.C3105A:p.L1035L 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 47 chr21 31154313 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=36,20|0,2;DP=58;ECNT=1;GERMQ=93;MBQ=35,40;MFRL=191,140;MMQ=60,60;MPOS=33;NALOD=1.04;NLOD=2.96;POPAF=6.00;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.084:11:7,0:3,0:8,3,0,0 0/1:45,2:0.065:47:22,2:22,0:28,17,0,2 all chr21 31671944 31671946 GCT - SCAF4 In_Frame_Del NM_001145444 exon19 c.2852_2854del p.Q951Pfs*182 DEL exonic SCAF4 . nonframeshift deletion SCAF4:NM_001145444:exon19:c.2852_2854del:p.Q951Pfs*182,SCAF4:NM_001145445:exon20:c.2831_2833del:p.Q944Pfs*182,SCAF4:NM_020706:exon20:c.2897_2899del:p.Q966Pfs*182;SCAF4:NM_001145444:exon19:c.2852_2854del:p.Q951Pfs*182,SCAF4:NM_001145445:exon20:c.2831_2833del:p.Q944Pfs*182,SCAF4:NM_020706:exon20:c.2897_2899del:p.Q966Pfs*182 21q22.11 0.0105 0.0055 0.0092 0.0038 0.0118 0.0096 0.0111 0.0215 rs752510963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 48 chr21 31671943 . GGCT G . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=5,51|0,3;DP=90;ECNT=1;GERMQ=93;MBQ=33,35;MFRL=219,190;MMQ=60,60;MPOS=30;NALOD=1.16;NLOD=3.27;POPAF=6.00;RPA=7,6;RU=GCT;STR;STRQ=1;TLOD=6.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.068:11:5,0:6,0:0,11,0,0 0/1:45,3:0.081:48:24,1:19,2:5,40,0,3 all chr21 31671944 31671946 GCT - SCAF4 In_Frame_Del NM_001145444 exon19 c.2852_2854del p.Q951Pfs*182 DEL exonic SCAF4 . nonframeshift deletion SCAF4:NM_001145444:exon19:c.2852_2854del:p.Q951Pfs*182,SCAF4:NM_001145445:exon20:c.2831_2833del:p.Q944Pfs*182,SCAF4:NM_020706:exon20:c.2897_2899del:p.Q966Pfs*182;SCAF4:NM_001145444:exon19:c.2852_2854del:p.Q951Pfs*182,SCAF4:NM_001145445:exon20:c.2831_2833del:p.Q944Pfs*182,SCAF4:NM_020706:exon20:c.2897_2899del:p.Q966Pfs*182 21q22.11 0.0105 0.0055 0.0092 0.0038 0.0118 0.0096 0.0111 0.0215 rs752510963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 48 chr21 31671943 . GGCT G . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=5,51|0,3;DP=90;ECNT=1;GERMQ=93;MBQ=33,35;MFRL=219,190;MMQ=60,60;MPOS=30;NALOD=1.16;NLOD=3.27;POPAF=6.00;RPA=7,6;RU=GCT;STR;STRQ=1;TLOD=6.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.068:11:5,0:6,0:0,11,0,0 0/1:45,3:0.081:48:24,1:19,2:5,40,0,3 all chr21 31924676 31924676 G T HUNK Missense_Mutation NM_014586 exon2 c.G470T p.R157L SNP exonic HUNK . nonsynonymous SNV HUNK:NM_014586:exon2:c.G470T:p.R157L 21q22.11 . . . . . . . . . 0.001 D 0.998 D 0.983 D 0.000 D 1.000 D 2.395 M 1.85 T -5.46 D 0.748 7.015 33 0.998 0.949 D -0.734 T 0.180 T 0.615 0 4.73 0.917 1.044 0.848 0.998 17.912 0.25 . 51 chr21 31924676 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=23,49|0,2;DP=76;ECNT=1;GERMQ=93;MBQ=35,40;MFRL=197,169;MMQ=60,60;MPOS=24;NALOD=1.33;NLOD=6.02;POPAF=6.00;TLOD=4.19 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,0:0.045:23:15,0:8,0:12,11,0,0 0/1:49,2:0.059:51:31,2:17,0:11,38,0,2 all chr21 31924676 31924676 G T HUNK Missense_Mutation NM_014586 exon2 c.G470T p.R157L SNP exonic HUNK . nonsynonymous SNV HUNK:NM_014586:exon2:c.G470T:p.R157L 21q22.11 . . . . . . . . . 0.001 D 0.998 D 0.983 D 0.000 D 1.000 D 2.395 M 1.85 T -5.46 D 0.748 7.015 33 0.998 0.949 D -0.734 T 0.180 T 0.615 0 4.73 0.917 1.044 0.848 0.998 17.912 0.25 . 51 chr21 31924676 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=23,49|0,2;DP=76;ECNT=1;GERMQ=93;MBQ=35,40;MFRL=197,169;MMQ=60,60;MPOS=24;NALOD=1.33;NLOD=6.02;POPAF=6.00;TLOD=4.19 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,0:0.045:23:15,0:8,0:12,11,0,0 0/1:49,2:0.059:51:31,2:17,0:11,38,0,2 all chr21 31998635 31998635 G T HUNK Silent NM_014586 exon11 c.G1596T p.V532V SNP exonic HUNK . synonymous SNV HUNK:NM_014586:exon11:c.G1596T:p.V532V 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 68 chr21 31998635 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=54,46|2,0;DP=103;ECNT=1;GERMQ=93;MBQ=32,37;MFRL=176,112;MMQ=60,60;MPOS=5;NALOD=1.48;NLOD=8.68;POPAF=6.00;TLOD=3.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:34,0:0.032:34:22,0:9,0:22,12,0,0 0/1:66,2:0.049:68:29,2:37,0:32,34,2,0 all chr21 31998635 31998635 G T HUNK Silent NM_014586 exon11 c.G1596T p.V532V SNP exonic HUNK . synonymous SNV HUNK:NM_014586:exon11:c.G1596T:p.V532V 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 68 chr21 31998635 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=54,46|2,0;DP=103;ECNT=1;GERMQ=93;MBQ=32,37;MFRL=176,112;MMQ=60,60;MPOS=5;NALOD=1.48;NLOD=8.68;POPAF=6.00;TLOD=3.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:34,0:0.032:34:22,0:9,0:22,12,0,0 0/1:66,2:0.049:68:29,2:37,0:32,34,2,0 all chr21 33263167 33263167 T C IFNAR2 Silent NM_001289125 exon9 c.T1215C p.P405P SNP exonic IFNAR2 . synonymous SNV IFNAR2:NM_001289125:exon9:c.T1215C:p.P405P,IFNAR2:NM_001385055:exon9:c.T1215C:p.P405P,IFNAR2:NM_207585:exon9:c.T1215C:p.P405P 21q22.11 8.24e-06 0 0 0 0 0 0 6.058e-05 rs765672736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 63 chr21 33263167 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=41,38|2,2;DP=85;ECNT=1;GERMQ=93;MBQ=36,20;MFRL=229,183;MMQ=60,60;MPOS=9;NALOD=1.30;NLOD=5.72;POPAF=6.00;TLOD=4.30 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:20,0:0.048:20:8,0:12,0:11,9,0,0 0/1:59,4:0.049:63:39,0:19,4:30,29,2,2 all chr21 33263167 33263167 T C IFNAR2 Silent NM_001289125 exon9 c.T1215C p.P405P SNP exonic IFNAR2 . synonymous SNV IFNAR2:NM_001289125:exon9:c.T1215C:p.P405P,IFNAR2:NM_001385055:exon9:c.T1215C:p.P405P,IFNAR2:NM_207585:exon9:c.T1215C:p.P405P 21q22.11 8.24e-06 0 0 0 0 0 0 6.058e-05 rs765672736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 63 chr21 33263167 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=41,38|2,2;DP=85;ECNT=1;GERMQ=93;MBQ=36,20;MFRL=229,183;MMQ=60,60;MPOS=9;NALOD=1.30;NLOD=5.72;POPAF=6.00;TLOD=4.30 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:20,0:0.048:20:8,0:12,0:11,9,0,0 0/1:59,4:0.049:63:39,0:19,4:30,29,2,2 all chr21 33722605 33722605 T - ITSN1 Frame_Shift_Del NM_001001132 exon4 c.139delT p.Q50Nfs*9 SNP exonic ITSN1 . frameshift deletion ITSN1:NM_001001132:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331008:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331009:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331010:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331011:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331012:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_003024:exon4:c.139delT:p.Q50Nfs*9;ITSN1:NM_001001132:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331008:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331009:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331010:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331011:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331012:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_003024:exon4:c.139delT:p.Q50Nfs*9 21q22.11 0.0002 0.0002 0 0.0001 0 0.0003 0 0.0002 rs770879789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 328 chr21 33722604 . CT C . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=217,222|2,5;DP=459;ECNT=2;GERMQ=93;MBQ=34,37;MFRL=182,195;MMQ=60,60;MPOS=40;NALOD=1.04;NLOD=28.29;POPAF=6.00;RPA=9,8;RU=T;STR;STRQ=1;TLOD=3.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:117,1:0.018:118:62,0:44,1:57,60,1,0 0/1:322,6:0.023:328:161,3:136,3:160,162,1,5 all chr21 33722605 33722605 T - ITSN1 Frame_Shift_Del NM_001001132 exon4 c.139delT p.Q50Nfs*9 SNP exonic ITSN1 . frameshift deletion ITSN1:NM_001001132:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331008:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331009:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331010:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331011:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331012:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_003024:exon4:c.139delT:p.Q50Nfs*9;ITSN1:NM_001001132:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331008:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331009:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331010:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331011:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_001331012:exon4:c.139delT:p.Q50Nfs*9,ITSN1:NM_003024:exon4:c.139delT:p.Q50Nfs*9 21q22.11 0.0002 0.0002 0 0.0001 0 0.0003 0 0.0002 rs770879789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 328 chr21 33722604 . CT C . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=217,222|2,5;DP=459;ECNT=2;GERMQ=93;MBQ=34,37;MFRL=182,195;MMQ=60,60;MPOS=40;NALOD=1.04;NLOD=28.29;POPAF=6.00;RPA=9,8;RU=T;STR;STRQ=1;TLOD=3.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:117,1:0.018:118:62,0:44,1:57,60,1,0 0/1:322,6:0.023:328:161,3:136,3:160,162,1,5 all chr21 34792485 34792485 C A RUNX1 Missense_Mutation NM_001001890 exon6 c.G1012T p.G338C SNP exonic RUNX1 . nonsynonymous SNV RUNX1:NM_001001890:exon6:c.G1012T:p.G338C,RUNX1:NM_001754:exon9:c.G1093T:p.G365C 21q22.12 5.135e-05 0 0 0 0 4.976e-05 0 0.0001 rs752616540 0.026 D 1.0 D 0.986 D 0.001 D 1.000 D 2.415 M -4.28 D -3.82 D 0.809 7.089 33 0.998 0.962 D 1.103 D 0.954 D 0.660 0 5.12 0.871 0.920 0.997 1.000 18.146 0.25 . 34 chr21 34792485 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26,17|2,2;DP=50;ECNT=1;GERMQ=82;MBQ=27,20;MFRL=180,149;MMQ=60,60;MPOS=26;NALOD=1.08;NLOD=3.31;POPAF=6.00;TLOD=5.91 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0:0.077:13:6,0:7,0:6,7,0,0 0/1:30,4:0.111:34:16,0:12,4:20,10,2,2 all chr21 34792485 34792485 C A RUNX1 Missense_Mutation NM_001001890 exon6 c.G1012T p.G338C SNP exonic RUNX1 . nonsynonymous SNV RUNX1:NM_001001890:exon6:c.G1012T:p.G338C,RUNX1:NM_001754:exon9:c.G1093T:p.G365C 21q22.12 5.135e-05 0 0 0 0 4.976e-05 0 0.0001 rs752616540 0.026 D 1.0 D 0.986 D 0.001 D 1.000 D 2.415 M -4.28 D -3.82 D 0.809 7.089 33 0.998 0.962 D 1.103 D 0.954 D 0.660 0 5.12 0.871 0.920 0.997 1.000 18.146 0.25 . 34 chr21 34792485 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26,17|2,2;DP=50;ECNT=1;GERMQ=82;MBQ=27,20;MFRL=180,149;MMQ=60,60;MPOS=26;NALOD=1.08;NLOD=3.31;POPAF=6.00;TLOD=5.91 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0:0.077:13:6,0:7,0:6,7,0,0 0/1:30,4:0.111:34:16,0:12,4:20,10,2,2 all chr21 39405974 39405974 T G LCA5L Missense_Mutation NM_001384292 exon8 c.A1531C p.T511P SNP exonic LCA5L . nonsynonymous SNV LCA5L:NM_001384292:exon8:c.A1531C:p.T511P,LCA5L:NM_001384294:exon8:c.A1531C:p.T511P,LCA5L:NM_001384295:exon9:c.A1531C:p.T511P,LCA5L:NM_001384296:exon9:c.A1531C:p.T511P,LCA5L:NM_001384285:exon10:c.A1921C:p.T641P,LCA5L:NM_001384286:exon10:c.A1921C:p.T641P,LCA5L:NM_001384287:exon10:c.A1921C:p.T641P,LCA5L:NM_001384289:exon10:c.A1921C:p.T641P,LCA5L:NM_001384291:exon10:c.A1921C:p.T641P,LCA5L:NM_001384293:exon10:c.A1531C:p.T511P,LCA5L:NM_001384288:exon11:c.A1921C:p.T641P,LCA5L:NM_152505:exon11:c.A1921C:p.T641P 21q22.2 0.0302 0.0476 0.0084 0.0238 0.0951 0.0324 0.0613 0.0043 rs201684934 0.005 D 0.001 B 0.001 B 0.000 D 1 D 0 N 0.4 T -0.9 N 0.124 2.868 21.7 0.980 0.097 N -1.037 T 0.051 T 0.554 0 4.09 -0.067 -0.471 0.055 0.382 6.686 0.25 . 80 chr21 39405974 . T G . base_qual;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,base_qual;AS_SB_TABLE=61,28|17,0;DP=107;ECNT=1;GERMQ=93;MBQ=20,8;MFRL=195,261;MMQ=60,60;MPOS=24;NALOD=0.655;NLOD=2.75;POPAF=6.00;TLOD=3.22 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,4:0.127:26:11,0:5,0:15,7,4,0 0/1:67,13:0.116:80:34,0:12,2:46,21,13,0 all chr21 39405974 39405974 T G LCA5L Missense_Mutation NM_001384292 exon8 c.A1531C p.T511P SNP exonic LCA5L . nonsynonymous SNV LCA5L:NM_001384292:exon8:c.A1531C:p.T511P,LCA5L:NM_001384294:exon8:c.A1531C:p.T511P,LCA5L:NM_001384295:exon9:c.A1531C:p.T511P,LCA5L:NM_001384296:exon9:c.A1531C:p.T511P,LCA5L:NM_001384285:exon10:c.A1921C:p.T641P,LCA5L:NM_001384286:exon10:c.A1921C:p.T641P,LCA5L:NM_001384287:exon10:c.A1921C:p.T641P,LCA5L:NM_001384289:exon10:c.A1921C:p.T641P,LCA5L:NM_001384291:exon10:c.A1921C:p.T641P,LCA5L:NM_001384293:exon10:c.A1531C:p.T511P,LCA5L:NM_001384288:exon11:c.A1921C:p.T641P,LCA5L:NM_152505:exon11:c.A1921C:p.T641P 21q22.2 0.0302 0.0476 0.0084 0.0238 0.0951 0.0324 0.0613 0.0043 rs201684934 0.005 D 0.001 B 0.001 B 0.000 D 1 D 0 N 0.4 T -0.9 N 0.124 2.868 21.7 0.980 0.097 N -1.037 T 0.051 T 0.554 0 4.09 -0.067 -0.471 0.055 0.382 6.686 0.25 . 80 chr21 39405974 . T G . base_qual;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,base_qual;AS_SB_TABLE=61,28|17,0;DP=107;ECNT=1;GERMQ=93;MBQ=20,8;MFRL=195,261;MMQ=60,60;MPOS=24;NALOD=0.655;NLOD=2.75;POPAF=6.00;TLOD=3.22 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,4:0.127:26:11,0:5,0:15,7,4,0 0/1:67,13:0.116:80:34,0:12,2:46,21,13,0 all chr21 42111357 42111357 G T UMODL1 Missense_Mutation NM_001199527 exon11 c.G1919T p.S640I SNP exonic UMODL1 . nonsynonymous SNV UMODL1:NM_001199527:exon11:c.G1919T:p.S640I,UMODL1:NM_173568:exon11:c.G2135T:p.S712I 21q22.3 . . . . . . . . . 0.072 T 0.138 B 0.028 B . . 1 N . . -0.55 T -0.23 N 0.047 0.198 4.659 0.882 0.007 N -1.004 T 0.181 T 0.497 0 -3.29 -0.503 -2.234 0.012 0.000 5.374 0.25 . 19 chr21 42111357 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=25,1|2,0;DP=28;ECNT=1;GERMQ=59;MBQ=35,35;MFRL=231,271;MMQ=60,60;MPOS=12;NALOD=1.000;NLOD=2.71;POPAF=6.00;TLOD=4.33 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.091:9:3,0:6,0:8,1,0,0 0/1:17,2:0.144:19:11,2:5,0:17,0,2,0 all chr21 42111357 42111357 G T UMODL1 Missense_Mutation NM_001199527 exon11 c.G1919T p.S640I SNP exonic UMODL1 . nonsynonymous SNV UMODL1:NM_001199527:exon11:c.G1919T:p.S640I,UMODL1:NM_173568:exon11:c.G2135T:p.S712I 21q22.3 . . . . . . . . . 0.072 T 0.138 B 0.028 B . . 1 N . . -0.55 T -0.23 N 0.047 0.198 4.659 0.882 0.007 N -1.004 T 0.181 T 0.497 0 -3.29 -0.503 -2.234 0.012 0.000 5.374 0.25 . 19 chr21 42111357 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=25,1|2,0;DP=28;ECNT=1;GERMQ=59;MBQ=35,35;MFRL=231,271;MMQ=60,60;MPOS=12;NALOD=1.000;NLOD=2.71;POPAF=6.00;TLOD=4.33 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.091:9:3,0:6,0:8,1,0,0 0/1:17,2:0.144:19:11,2:5,0:17,0,2,0 all chr21 43687668 43687668 G A RRP1B Missense_Mutation NM_015056 exon13 c.G1294A p.E432K SNP exonic RRP1B . nonsynonymous SNV RRP1B:NM_015056:exon13:c.G1294A:p.E432K 21q22.3 0.0001 0.0001 0 0 0 6.574e-05 0 0.0008 rs575488096 . . 0.978 D 0.469 P 0.822 N 1 N 0.895 L 1.56 T -1.16 N 0.094 2.201 17.51 0.997 0.362 N -0.986 T 0.078 T 0.707 0 4.08 0.917 0.813 0.002 0.004 13.388 0.25 . 17 chr21 43687668 . G A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=22,3|0,2;DP=28;ECNT=1;GERMQ=57;MBQ=32,32;MFRL=255,190;MMQ=60,60;MPOS=27;NALOD=1.04;NLOD=3.00;POPAF=6.00;TLOD=3.86 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.083:10:4,0:5,0:7,3,0,0 0/1:15,2:0.158:17:9,0:5,2:15,0,0,2 all chr21 43687668 43687668 G A RRP1B Missense_Mutation NM_015056 exon13 c.G1294A p.E432K SNP exonic RRP1B . nonsynonymous SNV RRP1B:NM_015056:exon13:c.G1294A:p.E432K 21q22.3 0.0001 0.0001 0 0 0 6.574e-05 0 0.0008 rs575488096 . . 0.978 D 0.469 P 0.822 N 1 N 0.895 L 1.56 T -1.16 N 0.094 2.201 17.51 0.997 0.362 N -0.986 T 0.078 T 0.707 0 4.08 0.917 0.813 0.002 0.004 13.388 0.25 . 17 chr21 43687668 . G A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=22,3|0,2;DP=28;ECNT=1;GERMQ=57;MBQ=32,32;MFRL=255,190;MMQ=60,60;MPOS=27;NALOD=1.04;NLOD=3.00;POPAF=6.00;TLOD=3.86 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.083:10:4,0:5,0:7,3,0,0 0/1:15,2:0.158:17:9,0:5,2:15,0,0,2 all chr21 44326773 44326773 G A PFKL Missense_Mutation NM_002626 exon22 c.G2254A p.A752T SNP exonic PFKL . nonsynonymous SNV PFKL:NM_002626:exon22:c.G2254A:p.A752T,PFKL:NM_001002021:exon25:c.G2404A:p.A802T 21q22.3 . . . . . . . . . 0.001 D 1.0 D 1.0 D 0.000 U 1 D 2.045 M -1.73 D -3.82 D 0.566 6.514 31 0.999 0.969 D -0.451 T 0.325 T 0.707 0 3.55 0.917 0.878 0.989 0.961 14.249 0.25 . 45 chr21 44326773 . G A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=44,14|0,2;DP=65;ECNT=1;GERMQ=93;MBQ=34,36;MFRL=200,148;MMQ=60,60;MPOS=20;NALOD=1.22;NLOD=4.47;POPAF=6.00;TLOD=3.64 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.057:15:8,0:6,0:11,4,0,0 0/1:43,2:0.065:45:14,2:28,0:33,10,0,2 all chr21 44326773 44326773 G A PFKL Missense_Mutation NM_002626 exon22 c.G2254A p.A752T SNP exonic PFKL . nonsynonymous SNV PFKL:NM_002626:exon22:c.G2254A:p.A752T,PFKL:NM_001002021:exon25:c.G2404A:p.A802T 21q22.3 . . . . . . . . . 0.001 D 1.0 D 1.0 D 0.000 U 1 D 2.045 M -1.73 D -3.82 D 0.566 6.514 31 0.999 0.969 D -0.451 T 0.325 T 0.707 0 3.55 0.917 0.878 0.989 0.961 14.249 0.25 . 45 chr21 44326773 . G A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=44,14|0,2;DP=65;ECNT=1;GERMQ=93;MBQ=34,36;MFRL=200,148;MMQ=60,60;MPOS=20;NALOD=1.22;NLOD=4.47;POPAF=6.00;TLOD=3.64 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.057:15:8,0:6,0:11,4,0,0 0/1:43,2:0.065:45:14,2:28,0:33,10,0,2 all chr21 44456862 44456862 C T LRRC3 Missense_Mutation NM_030891 exon2 c.C218T p.A73V SNP exonic LRRC3 . nonsynonymous SNV LRRC3:NM_030891:exon2:c.C218T:p.A73V 21q22.3 . . . . . . . . . 0.333 T 0.27 B 0.18 B 0.000 D 0.994 D 0.49 N 1.18 T -2.34 N 0.419 2.741 21.0 0.999 0.927 D -1.097 T 0.060 T 0.677 0 3.73 0.871 0.848 0.094 0.656 14.505 0.25 . 34 chr21 44456862 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24,23|0,2;DP=50;ECNT=1;GERMQ=93;MBQ=30,38;MFRL=199,246;MMQ=60,60;MPOS=29;NALOD=1.19;NLOD=4.16;POPAF=6.00;TLOD=4.33 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.061:15:8,0:5,0:7,8,0,0 0/1:32,2:0.094:34:13,2:17,0:17,15,0,2 all chr21 44456862 44456862 C T LRRC3 Missense_Mutation NM_030891 exon2 c.C218T p.A73V SNP exonic LRRC3 . nonsynonymous SNV LRRC3:NM_030891:exon2:c.C218T:p.A73V 21q22.3 . . . . . . . . . 0.333 T 0.27 B 0.18 B 0.000 D 0.994 D 0.49 N 1.18 T -2.34 N 0.419 2.741 21.0 0.999 0.927 D -1.097 T 0.060 T 0.677 0 3.73 0.871 0.848 0.094 0.656 14.505 0.25 . 34 chr21 44456862 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24,23|0,2;DP=50;ECNT=1;GERMQ=93;MBQ=30,38;MFRL=199,246;MMQ=60,60;MPOS=29;NALOD=1.19;NLOD=4.16;POPAF=6.00;TLOD=4.33 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.061:15:8,0:5,0:7,8,0,0 0/1:32,2:0.094:34:13,2:17,0:17,15,0,2 all chr21 44573789 44573789 A G KRTAP10-4 Missense_Mutation NM_198687 exon1 c.A31G p.S11G SNP exonic KRTAP10-4 . nonsynonymous SNV KRTAP10-4:NM_198687:exon1:c.A31G:p.S11G 21q22.3 0.0122 0.0877 0.0088 0.0109 0.0092 0.0038 0.0111 0.0055 rs9977039 1.0 T 0.025 B 0.005 B . . 1 N -1.65 N 5.95 T 2.26 N 0.052 -2.017 0.001 0.678 0.001 N -0.956 T 0.000 T 0.403 0 0.633 -0.422 -0.123 0.659 0.139 4.491 0.25 . 88 chr21 44573789 . A G . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=53,52|8,0;DP=116;ECNT=1;GERMQ=93;MBQ=23,32;MFRL=160,200;MMQ=60,40;MPOS=36;NALOD=-7.169e-01;NLOD=2.40;POPAF=6.00;TLOD=14.58 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,2:0.103:25:5,0:15,1:11,12,2,0 0/1:82,6:0.096:88:31,3:43,3:42,40,6,0 all chr21 44573789 44573789 A G KRTAP10-4 Missense_Mutation NM_198687 exon1 c.A31G p.S11G SNP exonic KRTAP10-4 . nonsynonymous SNV KRTAP10-4:NM_198687:exon1:c.A31G:p.S11G 21q22.3 0.0122 0.0877 0.0088 0.0109 0.0092 0.0038 0.0111 0.0055 rs9977039 1.0 T 0.025 B 0.005 B . . 1 N -1.65 N 5.95 T 2.26 N 0.052 -2.017 0.001 0.678 0.001 N -0.956 T 0.000 T 0.403 0 0.633 -0.422 -0.123 0.659 0.139 4.491 0.25 . 88 chr21 44573789 . A G . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=53,52|8,0;DP=116;ECNT=1;GERMQ=93;MBQ=23,32;MFRL=160,200;MMQ=60,40;MPOS=36;NALOD=-7.169e-01;NLOD=2.40;POPAF=6.00;TLOD=14.58 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,2:0.103:25:5,0:15,1:11,12,2,0 0/1:82,6:0.096:88:31,3:43,3:42,40,6,0 all chr21 44591657 44591657 A G KRTAP10-6 Silent NM_198688 exon1 c.T828C p.S276S SNP exonic KRTAP10-6 . synonymous SNV KRTAP10-6:NM_198688:exon1:c.T828C:p.S276S 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 44591657 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24,26|0,2;DP=55;ECNT=1;GERMQ=93;MBQ=35,39;MFRL=234,175;MMQ=60,45;MPOS=8;NALOD=1.27;NLOD=5.11;POPAF=6.00;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:17,0:0.052:17:10,0:6,0:8,9,0,0 0/1:33,2:0.083:35:17,2:14,0:16,17,0,2 all chr21 44591657 44591657 A G KRTAP10-6 Silent NM_198688 exon1 c.T828C p.S276S SNP exonic KRTAP10-6 . synonymous SNV KRTAP10-6:NM_198688:exon1:c.T828C:p.S276S 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 44591657 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24,26|0,2;DP=55;ECNT=1;GERMQ=93;MBQ=35,39;MFRL=234,175;MMQ=60,45;MPOS=8;NALOD=1.27;NLOD=5.11;POPAF=6.00;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:17,0:0.052:17:10,0:6,0:8,9,0,0 0/1:33,2:0.083:35:17,2:14,0:16,17,0,2 all chr21 44697706 44697706 G A KRTAP10-12 Missense_Mutation NM_198699 exon1 c.G505A p.A169T SNP exonic KRTAP10-12 . nonsynonymous SNV KRTAP10-12:NM_198699:exon1:c.G505A:p.A169T 21q22.3 . . . . . . . . . 0.298 T 0.007 B 0.013 B . . 1 N 1.795 L 6.01 T -1.45 N 0.116 -0.014 2.450 0.617 0.013 N -0.915 T 0.003 T 0.609 0 0.823 -1.242 -0.107 0.000 0.001 2.622 0.25 . 42 chr21 44697706 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=20,32|3,0;DP=55;ECNT=1;GERMQ=93;MBQ=34,36;MFRL=211,238;MMQ=60,60;MPOS=35;NALOD=1.11;NLOD=3.57;POPAF=6.00;TLOD=6.30 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0:0.072:13:6,0:6,0:5,8,0,0 0/1:39,3:0.094:42:16,3:19,0:15,24,3,0 all chr21 44697706 44697706 G A KRTAP10-12 Missense_Mutation NM_198699 exon1 c.G505A p.A169T SNP exonic KRTAP10-12 . nonsynonymous SNV KRTAP10-12:NM_198699:exon1:c.G505A:p.A169T 21q22.3 . . . . . . . . . 0.298 T 0.007 B 0.013 B . . 1 N 1.795 L 6.01 T -1.45 N 0.116 -0.014 2.450 0.617 0.013 N -0.915 T 0.003 T 0.609 0 0.823 -1.242 -0.107 0.000 0.001 2.622 0.25 . 42 chr21 44697706 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=20,32|3,0;DP=55;ECNT=1;GERMQ=93;MBQ=34,36;MFRL=211,238;MMQ=60,60;MPOS=35;NALOD=1.11;NLOD=3.57;POPAF=6.00;TLOD=6.30 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0:0.072:13:6,0:6,0:5,8,0,0 0/1:39,3:0.094:42:16,3:19,0:15,24,3,0 all chr21 44856279 44856281 GCA - PTTG1IP In_Frame_Del DEL exonic PTTG1IP . nonframeshift deletion PTTG1IP:NM_004339:exon4:c.361_363del:p.C121Rfs*60;PTTG1IP:NM_004339:exon4:c.361_363del:p.C121Rfs*60 21q22.3 0.0020 0.0009 0.0016 0.0010 0.0003 0.0019 0 0.0044 rs755481372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 79 chr21 44856278 . TGCA T . slippage AS_FilterStatus=SITE;AS_SB_TABLE=50,55|2,3;DP=126;ECNT=1;GERMQ=93;MBQ=30,34;MFRL=188,172;MMQ=60,60;MPOS=18;NALOD=1.45;NLOD=7.81;POPAF=6.00;RPA=6,5;RU=GCA;STR;STRQ=1;TLOD=11.53 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:31,0:0.034:31:17,0:10,0:14,17,0,0 0/1:74,5:0.081:79:33,0:33,4:36,38,2,3 all chr21 44856279 44856281 GCA - PTTG1IP In_Frame_Del DEL exonic PTTG1IP . nonframeshift deletion PTTG1IP:NM_004339:exon4:c.361_363del:p.C121Rfs*60;PTTG1IP:NM_004339:exon4:c.361_363del:p.C121Rfs*60 21q22.3 0.0020 0.0009 0.0016 0.0010 0.0003 0.0019 0 0.0044 rs755481372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 79 chr21 44856278 . TGCA T . slippage AS_FilterStatus=SITE;AS_SB_TABLE=50,55|2,3;DP=126;ECNT=1;GERMQ=93;MBQ=30,34;MFRL=188,172;MMQ=60,60;MPOS=18;NALOD=1.45;NLOD=7.81;POPAF=6.00;RPA=6,5;RU=GCA;STR;STRQ=1;TLOD=11.53 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:31,0:0.034:31:17,0:10,0:14,17,0,0 0/1:74,5:0.081:79:33,0:33,4:36,38,2,3 all chr21 46003518 46003518 G T COL6A1 Missense_Mutation NM_001848 exon35 c.G2592T p.R864S SNP exonic COL6A1 . nonsynonymous SNV COL6A1:NM_001848:exon35:c.G2592T:p.R864S 21q22.3 . . . . . . . . . 0.114 T 0.101 B 0.089 B 0.058 N 1 N 0.895 L -2.6 D -2.87 D 0.189 -0.270 0.777 0.933 0.389 N -0.752 T 0.414 T 0.706 0 1.75 0.917 0.964 0.011 0.059 4.500 0.25 . 50 chr21 46003518 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=51,11|2,0;DP=64;ECNT=1;GERMQ=93;MBQ=35,35;MFRL=238,296;MMQ=60,60;MPOS=47;NALOD=1.18;NLOD=4.21;POPAF=6.00;TLOD=3.19 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:14,0:0.063:14:7,0:7,0:12,2,0,0 0/1:48,2:0.059:50:30,2:17,0:39,9,2,0 all chr21 46003518 46003518 G T COL6A1 Missense_Mutation NM_001848 exon35 c.G2592T p.R864S SNP exonic COL6A1 . nonsynonymous SNV COL6A1:NM_001848:exon35:c.G2592T:p.R864S 21q22.3 . . . . . . . . . 0.114 T 0.101 B 0.089 B 0.058 N 1 N 0.895 L -2.6 D -2.87 D 0.189 -0.270 0.777 0.933 0.389 N -0.752 T 0.414 T 0.706 0 1.75 0.917 0.964 0.011 0.059 4.500 0.25 . 50 chr21 46003518 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=51,11|2,0;DP=64;ECNT=1;GERMQ=93;MBQ=35,35;MFRL=238,296;MMQ=60,60;MPOS=47;NALOD=1.18;NLOD=4.21;POPAF=6.00;TLOD=3.19 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:14,0:0.063:14:7,0:7,0:12,2,0,0 0/1:48,2:0.059:50:30,2:17,0:39,9,2,0 all chr21 46567416 46567416 G T DIP2A Missense_Mutation NM_001146116 exon38 c.G4498T p.D1500Y SNP exonic DIP2A . nonsynonymous SNV DIP2A:NM_001146116:exon38:c.G4498T:p.D1500Y,DIP2A:NM_001353942:exon38:c.G4513T:p.D1505Y,DIP2A:NM_001353943:exon38:c.G4510T:p.D1504Y,DIP2A:NM_015151:exon38:c.G4510T:p.D1504Y 21q22.3 . . . . . . . . . 0.008 D 0.356 B 0.278 B 0.000 D 1 D 1.935 M 2.68 T -4.44 D 0.449 6.598 31 0.994 0.905 D -1.142 T 0.059 T 0.707 0 5.8 0.917 1.048 0.986 1.000 19.043 0.25 . 86 chr21 46567416 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53,56|3,0;DP=119;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=183,213;MMQ=60,60;MPOS=39;NALOD=1.39;NLOD=6.92;POPAF=6.00;TLOD=4.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,0:0.039:26:15,0:11,0:15,11,0,0 0/1:83,3:0.053:86:43,3:40,0:38,45,3,0 all chr21 46567416 46567416 G T DIP2A Missense_Mutation NM_001146116 exon38 c.G4498T p.D1500Y SNP exonic DIP2A . nonsynonymous SNV DIP2A:NM_001146116:exon38:c.G4498T:p.D1500Y,DIP2A:NM_001353942:exon38:c.G4513T:p.D1505Y,DIP2A:NM_001353943:exon38:c.G4510T:p.D1504Y,DIP2A:NM_015151:exon38:c.G4510T:p.D1504Y 21q22.3 . . . . . . . . . 0.008 D 0.356 B 0.278 B 0.000 D 1 D 1.935 M 2.68 T -4.44 D 0.449 6.598 31 0.994 0.905 D -1.142 T 0.059 T 0.707 0 5.8 0.917 1.048 0.986 1.000 19.043 0.25 . 86 chr21 46567416 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53,56|3,0;DP=119;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=183,213;MMQ=60,60;MPOS=39;NALOD=1.39;NLOD=6.92;POPAF=6.00;TLOD=4.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,0:0.039:26:15,0:11,0:15,11,0,0 0/1:83,3:0.053:86:43,3:40,0:38,45,3,0 all chr21 9026820 9026820 G T MIR10396A IGR SNP intergenic MIR10396A;TEKT4P2 dist=39155;dist=41536 . . 21p11.2 . . . . . . . . rs796181129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 39 chr21 9026820 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=34,16|2,2;DP=55;ECNT=2;GERMQ=93;MBQ=35,36;MFRL=222,247;MMQ=27,27;MPOS=31;NALOD=1.21;NLOD=3.91;POPAF=6.00;TLOD=6.23 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.060:15:7,0:8,0:11,4,0,0 0/1:35,4:0.124:39:21,3:13,1:23,12,2,2 all chr21 9026820 9026820 G T MIR10396A IGR SNP intergenic MIR10396A;TEKT4P2 dist=39155;dist=41536 . . 21p11.2 . . . . . . . . rs796181129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 39 chr21 9026820 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=34,16|2,2;DP=55;ECNT=2;GERMQ=93;MBQ=35,36;MFRL=222,247;MMQ=27,27;MPOS=31;NALOD=1.21;NLOD=3.91;POPAF=6.00;TLOD=6.23 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.060:15:7,0:8,0:11,4,0,0 0/1:35,4:0.124:39:21,3:13,1:23,12,2,2 all chr21 9026871 9026871 G A MIR10396A IGR SNP intergenic MIR10396A;TEKT4P2 dist=39206;dist=41485 . . 21p11.2 . . . . . . . . rs796330305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 59 chr21 9026871 . G A . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=43,37|2,2;DP=84;ECNT=2;GERMQ=93;MBQ=33,33;MFRL=219,247;MMQ=27,27;MPOS=18;NALOD=1.30;NLOD=5.72;POPAF=6.00;TLOD=3.74 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,0:0.048:25:11,0:14,0:13,12,0,0 0/1:55,4:0.083:59:29,2:24,1:30,25,2,2 all chr21 9026871 9026871 G A MIR10396A IGR SNP intergenic MIR10396A;TEKT4P2 dist=39206;dist=41485 . . 21p11.2 . . . . . . . . rs796330305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 59 chr21 9026871 . G A . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=43,37|2,2;DP=84;ECNT=2;GERMQ=93;MBQ=33,33;MFRL=219,247;MMQ=27,27;MPOS=18;NALOD=1.30;NLOD=5.72;POPAF=6.00;TLOD=3.74 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,0:0.048:25:11,0:14,0:13,12,0,0 0/1:55,4:0.083:59:29,2:24,1:30,25,2,2 all chr21 9586893 9586893 G A NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27625;dist=75296 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 45 chr21 9586893 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=50,1|2,0;DP=53;ECNT=4;GERMQ=93;MBQ=37,35;MFRL=222,192;MMQ=27,23;MPOS=21;NALOD=0.974;NLOD=2.41;POPAF=6.00;TLOD=4.34 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:8,0:0.097:8:2,0:4,0:0|1:9586893_G_A:9586893:8,0,0,0 0|1:43,2:0.064:45:21,1:19,1:0|1:9586893_G_A:9586893:42,1,2,0 all chr21 9586893 9586893 G A NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27625;dist=75296 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 45 chr21 9586893 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=50,1|2,0;DP=53;ECNT=4;GERMQ=93;MBQ=37,35;MFRL=222,192;MMQ=27,23;MPOS=21;NALOD=0.974;NLOD=2.41;POPAF=6.00;TLOD=4.34 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:8,0:0.097:8:2,0:4,0:0|1:9586893_G_A:9586893:8,0,0,0 0|1:43,2:0.064:45:21,1:19,1:0|1:9586893_G_A:9586893:42,1,2,0 all chr21 9586906 9586906 C T NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27638;dist=75283 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 48 chr21 9586906 . C T . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=54,1|2,0;DP=57;ECNT=4;GERMQ=93;MBQ=38,35;MFRL=218,192;MMQ=27,23;MPOS=21;NALOD=1.06;NLOD=3.01;POPAF=6.00;TLOD=4.23 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:9,0:0.081:9:4,0:5,0:0|1:9586893_G_A:9586893:9,0,0,0 0|1:46,2:0.059:48:22,1:21,1:0|1:9586893_G_A:9586893:45,1,2,0 all chr21 9586906 9586906 C T NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27638;dist=75283 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 48 chr21 9586906 . C T . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=54,1|2,0;DP=57;ECNT=4;GERMQ=93;MBQ=38,35;MFRL=218,192;MMQ=27,23;MPOS=21;NALOD=1.06;NLOD=3.01;POPAF=6.00;TLOD=4.23 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:9,0:0.081:9:4,0:5,0:0|1:9586893_G_A:9586893:9,0,0,0 0|1:46,2:0.059:48:22,1:21,1:0|1:9586893_G_A:9586893:45,1,2,0 all chr21 9586962 9586962 G T NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27694;dist=75227 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 140 chr21 9586962 . G T . clustered_events;map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=130,41|9,0;DP=183;ECNT=4;GERMQ=93;MBQ=33,33;MFRL=168,162;MMQ=27,23;MPOS=12;NALOD=-1.294e+00;NLOD=4.33;POPAF=6.00;TLOD=6.86 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:38,2:0.084:40:15,0:17,2:26,12,2,0 0/1:133,7:0.065:140:57,4:71,3:104,29,7,0 all chr21 9586962 9586962 G T NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27694;dist=75227 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 140 chr21 9586962 . G T . clustered_events;map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=130,41|9,0;DP=183;ECNT=4;GERMQ=93;MBQ=33,33;MFRL=168,162;MMQ=27,23;MPOS=12;NALOD=-1.294e+00;NLOD=4.33;POPAF=6.00;TLOD=6.86 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:38,2:0.084:40:15,0:17,2:26,12,2,0 0/1:133,7:0.065:140:57,4:71,3:104,29,7,0 all chr21 9586999 9586999 C T NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27731;dist=75190 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 183 chr21 9586999 . C T . clustered_events;map_qual;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=134,102|3,0;DP=245;ECNT=4;GERMQ=93;MBQ=23,39;MFRL=156,162;MMQ=35,23;MPOS=48;NALOD=-1.239e+00;NLOD=8.14;POPAF=6.00;TLOD=5.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:55,1:0.045:56:21,0:30,1:28,27,1,0 0/1:181,2:0.020:183:80,1:96,0:106,75,2,0 all chr21 9586999 9586999 C T NCOR1P4 IGR SNP intergenic NCOR1P4;LOC105379514 dist=27731;dist=75190 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 183 chr21 9586999 . C T . clustered_events;map_qual;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=134,102|3,0;DP=245;ECNT=4;GERMQ=93;MBQ=23,39;MFRL=156,162;MMQ=35,23;MPOS=48;NALOD=-1.239e+00;NLOD=8.14;POPAF=6.00;TLOD=5.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:55,1:0.045:56:21,0:30,1:28,27,1,0 0/1:181,2:0.020:183:80,1:96,0:106,75,2,0 all chr21 10325813 10325813 G T LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=504752;dist=87684 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 10325813 . G T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=20,30|1,1;DP=52;ECNT=3;GERMQ=93;MBQ=20,20;MFRL=135,117;MMQ=27,47;MPOS=42;NALOD=0.954;NLOD=2.41;POPAF=6.00;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:11,0:0.100:11:8,0:3,0:0|1:10325813_G_T:10325813:5,6,0,0 0|1:39,2:0.071:41:20,0:17,2:0|1:10325813_G_T:10325813:15,24,1,1 all chr21 10325813 10325813 G T LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=504752;dist=87684 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 10325813 . G T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=20,30|1,1;DP=52;ECNT=3;GERMQ=93;MBQ=20,20;MFRL=135,117;MMQ=27,47;MPOS=42;NALOD=0.954;NLOD=2.41;POPAF=6.00;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:11,0:0.100:11:8,0:3,0:0|1:10325813_G_T:10325813:5,6,0,0 0|1:39,2:0.071:41:20,0:17,2:0|1:10325813_G_T:10325813:15,24,1,1 all chr21 10325826 10325826 G T LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=504765;dist=87671 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 40 chr21 10325826 . G T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=19,30|1,1;DP=51;ECNT=3;GERMQ=93;MBQ=20,20;MFRL=133,117;MMQ=27,47;MPOS=42;NALOD=0.954;NLOD=2.41;POPAF=6.00;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:11,0:0.100:11:8,0:3,0:0|1:10325813_G_T:10325813:5,6,0,0 0|1:38,2:0.071:40:17,0:17,2:0|1:10325813_G_T:10325813:14,24,1,1 all chr21 10325826 10325826 G T LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=504765;dist=87671 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 40 chr21 10325826 . G T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=19,30|1,1;DP=51;ECNT=3;GERMQ=93;MBQ=20,20;MFRL=133,117;MMQ=27,47;MPOS=42;NALOD=0.954;NLOD=2.41;POPAF=6.00;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:11,0:0.100:11:8,0:3,0:0|1:10325813_G_T:10325813:5,6,0,0 0|1:38,2:0.071:40:17,0:17,2:0|1:10325813_G_T:10325813:14,24,1,1 all chr21 10325849 10325849 T G LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=504788;dist=87648 . . 21p11.2 . . . . . . . . rs773292176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 39 chr21 10325849 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15,28|2,3;DP=49;ECNT=3;GERMQ=75;MBQ=20,20;MFRL=142,119;MMQ=27,46;MPOS=15;NALOD=0.954;NLOD=2.40;POPAF=6.00;TLOD=9.44 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.100:9:7,0:2,0:3,6,0,0 0/1:34,5:0.133:39:17,4:17,1:12,22,2,3 all chr21 10325849 10325849 T G LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=504788;dist=87648 . . 21p11.2 . . . . . . . . rs773292176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 39 chr21 10325849 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15,28|2,3;DP=49;ECNT=3;GERMQ=75;MBQ=20,20;MFRL=142,119;MMQ=27,46;MPOS=15;NALOD=0.954;NLOD=2.40;POPAF=6.00;TLOD=9.44 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.100:9:7,0:2,0:3,6,0,0 0/1:34,5:0.133:39:17,4:17,1:12,22,2,3 all chr21 10330779 10330779 C T LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=509718;dist=82718 . . 21p11.2 . . . . . . . . rs76400601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 183 chr21 10330779 . C T . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=123,123|4,8;DP=267;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=187,186;MMQ=60,40;MPOS=25;NALOD=0.066;NLOD=16.14;POPAF=6.00;TLOD=18.33 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:74,1:0.029:75:35,1:31,0:36,38,0,1 0/1:172,11:0.063:183:86,5:80,5:87,85,4,7 all chr21 10330779 10330779 C T LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=509718;dist=82718 . . 21p11.2 . . . . . . . . rs76400601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 183 chr21 10330779 . C T . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=123,123|4,8;DP=267;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=187,186;MMQ=60,40;MPOS=25;NALOD=0.066;NLOD=16.14;POPAF=6.00;TLOD=18.33 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:74,1:0.029:75:35,1:31,0:36,38,0,1 0/1:172,11:0.063:183:86,5:80,5:87,85,4,7 all chr21 10331424 10331424 G A LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=510363;dist=82073 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 186 chr21 10331424 . G A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=69,159|6,20;DP=267;ECNT=1;GERMQ=93;MBQ=37,38;MFRL=246,236;MMQ=60,60;MPOS=18;NALOD=-3.136e+00;NLOD=11.20;POPAF=6.00;TLOD=64.40 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:66,2:0.045:68:32,0:31,2:17,49,0,2 0/1:162,24:0.133:186:78,13:82,11:52,110,6,18 all chr21 10331424 10331424 G A LINC01667 IGR SNP intergenic LINC01667;BAGE2 dist=510363;dist=82073 . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 186 chr21 10331424 . G A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=69,159|6,20;DP=267;ECNT=1;GERMQ=93;MBQ=37,38;MFRL=246,236;MMQ=60,60;MPOS=18;NALOD=-3.136e+00;NLOD=11.20;POPAF=6.00;TLOD=64.40 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:66,2:0.045:68:32,0:31,2:17,49,0,2 0/1:162,24:0.133:186:78,13:82,11:52,110,6,18 all chr21 10462962 10462962 G T BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28640965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 10462962 . G T . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=85,100|3,4;DP=201;ECNT=2;GERMQ=93;MBQ=37,36;MFRL=252,241;MMQ=27,27;MPOS=17;NALOD=0.366;NLOD=14.48;POPAF=6.00;TLOD=7.98 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:58,1:0.032:59:29,1:26,0:25,33,0,1 0/1:127,6:0.046:133:61,3:60,2:60,67,3,3 all chr21 10462962 10462962 G T BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28640965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 10462962 . G T . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=85,100|3,4;DP=201;ECNT=2;GERMQ=93;MBQ=37,36;MFRL=252,241;MMQ=27,27;MPOS=17;NALOD=0.366;NLOD=14.48;POPAF=6.00;TLOD=7.98 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:58,1:0.032:59:29,1:26,0:25,33,0,1 0/1:127,6:0.046:133:61,3:60,2:60,67,3,3 all chr21 10462996 10462996 C A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28483076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 146 chr21 10462996 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=57,140|4,8;DP=220;ECNT=2;GERMQ=93;MBQ=34,36;MFRL=264,239;MMQ=40,40;MPOS=30;NALOD=1.79;NLOD=17.65;POPAF=6.00;TLOD=24.92 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:63,0:0.016:63:31,0:29,0:17,46,0,0 0/1:134,12:0.093:146:58,7:71,5:40,94,4,8 all chr21 10462996 10462996 C A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28483076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 146 chr21 10462996 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=57,140|4,8;DP=220;ECNT=2;GERMQ=93;MBQ=34,36;MFRL=264,239;MMQ=40,40;MPOS=30;NALOD=1.79;NLOD=17.65;POPAF=6.00;TLOD=24.92 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:63,0:0.016:63:31,0:29,0:17,46,0,0 0/1:134,12:0.093:146:58,7:71,5:40,94,4,8 all chr21 10463097 10463097 T A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs1640139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 104 chr21 10463097 . T A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=22,111|0,5;DP=148;ECNT=1;GERMQ=93;MBQ=36,37;MFRL=254,357;MMQ=60,60;MPOS=28;NALOD=-1.209e+00;NLOD=5.56;POPAF=6.00;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:33,1:0.056:34:13,1:17,0:5,28,0,1 0/1:100,4:0.049:104:51,3:45,1:17,83,0,4 all chr21 10463097 10463097 T A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs1640139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 104 chr21 10463097 . T A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=22,111|0,5;DP=148;ECNT=1;GERMQ=93;MBQ=36,37;MFRL=254,357;MMQ=60,60;MPOS=28;NALOD=-1.209e+00;NLOD=5.56;POPAF=6.00;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:33,1:0.056:34:13,1:17,0:5,28,0,1 0/1:100,4:0.049:104:51,3:45,1:17,83,0,4 all chr21 10464875 10464875 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs3908556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 595 chr21 10464875 . G A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=509,252|35,11;DP=843;ECNT=1;GERMQ=93;MBQ=35,36;MFRL=186,189;MMQ=60,60;MPOS=23;NALOD=-1.276e+01;NLOD=26.34;POPAF=6.00;TLOD=80.14 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:203,9:0.041:212:102,3:95,5:130,73,7,2 0/1:558,37:0.062:595:237,18:301,16:379,179,28,9 all chr21 10464875 10464875 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs3908556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 595 chr21 10464875 . G A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=509,252|35,11;DP=843;ECNT=1;GERMQ=93;MBQ=35,36;MFRL=186,189;MMQ=60,60;MPOS=23;NALOD=-1.276e+01;NLOD=26.34;POPAF=6.00;TLOD=80.14 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:203,9:0.041:212:102,3:95,5:130,73,7,2 0/1:558,37:0.062:595:237,18:301,16:379,179,28,9 all chr21 10465149 10465149 G A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs2698592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 64 chr21 10465149 . G A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=5,56|5,22;DP=90;ECNT=1;GERMQ=19;MBQ=35,36;MFRL=307,276;MMQ=60,60;MPOS=25;NALOD=-1.236e+00;NLOD=2.95;POPAF=6.00;TLOD=84.09 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,1:0.080:24:7,1:16,0:3,20,0,1 0/1:38,26:0.406:64:19,16:19,10:2,36,5,21 all chr21 10465149 10465149 G A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs2698592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 64 chr21 10465149 . G A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=5,56|5,22;DP=90;ECNT=1;GERMQ=19;MBQ=35,36;MFRL=307,276;MMQ=60,60;MPOS=25;NALOD=-1.236e+00;NLOD=2.95;POPAF=6.00;TLOD=84.09 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,1:0.080:24:7,1:16,0:3,20,0,1 0/1:38,26:0.406:64:19,16:19,10:2,36,5,21 all chr21 10472930 10472930 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs10154051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 44 chr21 10472930 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=53,2|4,0;DP=60;ECNT=1;GERMQ=93;MBQ=38,31;MFRL=219,185;MMQ=27,27;MPOS=19;NALOD=1.20;NLOD=4.51;POPAF=6.00;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.059:15:6,0:9,0:15,0,0,0 0/1:40,4:0.108:44:18,2:21,2:38,2,4,0 all chr21 10472930 10472930 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs10154051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 44 chr21 10472930 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=53,2|4,0;DP=60;ECNT=1;GERMQ=93;MBQ=38,31;MFRL=219,185;MMQ=27,27;MPOS=19;NALOD=1.20;NLOD=4.51;POPAF=6.00;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.059:15:6,0:9,0:15,0,0,0 0/1:40,4:0.108:44:18,2:21,2:38,2,4,0 all chr21 10473402 10473402 T C BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28538601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 504 chr21 10473402 . T C . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=318,327|14,18;DP=711;ECNT=1;GERMQ=93;MBQ=36,37;MFRL=197,188;MMQ=40,37;MPOS=25;NALOD=-1.981e+01;NLOD=9.39;POPAF=6.00;TLOD=33.48 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:161,12:0.071:173:84,7:74,3:73,88,4,8 0/1:484,20:0.040:504:240,8:232,10:245,239,10,10 all chr21 10473402 10473402 T C BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28538601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 504 chr21 10473402 . T C . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=318,327|14,18;DP=711;ECNT=1;GERMQ=93;MBQ=36,37;MFRL=197,188;MMQ=40,37;MPOS=25;NALOD=-1.981e+01;NLOD=9.39;POPAF=6.00;TLOD=33.48 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:161,12:0.071:173:84,7:74,3:73,88,4,8 0/1:484,20:0.040:504:240,8:232,10:245,239,10,10 all chr21 10473490 10473490 A G BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28692944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 489 chr21 10473490 . A G . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=262,382|4,24;DP=695;ECNT=2;GERMQ=93;MBQ=35,36;MFRL=210,186;MMQ=40,27;MPOS=28;NALOD=-6.629e+00;NLOD=28.97;POPAF=6.00;TLOD=33.68 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:177,6:0.042:183:85,3:87,2:75,102,0,6 0/1:467,22:0.041:489:218,7:231,14:187,280,4,18 all chr21 10473490 10473490 A G BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28692944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 489 chr21 10473490 . A G . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=262,382|4,24;DP=695;ECNT=2;GERMQ=93;MBQ=35,36;MFRL=210,186;MMQ=40,27;MPOS=28;NALOD=-6.629e+00;NLOD=28.97;POPAF=6.00;TLOD=33.68 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:177,6:0.042:183:85,3:87,2:75,102,0,6 0/1:467,22:0.041:489:218,7:231,14:187,280,4,18 all chr21 10473548 10473548 C A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28473122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 339 chr21 10473548 . C A . map_qual;normal_artifact;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=211,257|0,12;DP=493;ECNT=2;GERMQ=93;MBQ=36,33;MFRL=212,178;MMQ=45,25;MPOS=19;NALOD=-1.235e+00;NLOD=30.74;POPAF=6.00;TLOD=9.67 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:138,3:0.029:141:64,2:72,1:66,72,0,3 0/1:330,9:0.029:339:150,3:165,5:145,185,0,9 all chr21 10473548 10473548 C A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs28473122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 339 chr21 10473548 . C A . map_qual;normal_artifact;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=211,257|0,12;DP=493;ECNT=2;GERMQ=93;MBQ=36,33;MFRL=212,178;MMQ=45,25;MPOS=19;NALOD=-1.235e+00;NLOD=30.74;POPAF=6.00;TLOD=9.67 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:138,3:0.029:141:64,2:72,1:66,72,0,3 0/1:330,9:0.029:339:150,3:165,5:145,185,0,9 all chr21 10473906 10473906 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs67958584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 10473906 . C T . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=4,48|0,9;DP=61;ECNT=1;GERMQ=52;MBQ=36,36;MFRL=287,295;MMQ=40,40;MPOS=27;NALOD=-6.775e-01;NLOD=2.64;POPAF=6.00;TLOD=17.24 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,1:0.096:19:6,1:8,0:2,16,0,1 0/1:34,8:0.210:42:19,6:13,2:2,32,0,8 all chr21 10473906 10473906 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs67958584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 10473906 . C T . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=4,48|0,9;DP=61;ECNT=1;GERMQ=52;MBQ=36,36;MFRL=287,295;MMQ=40,40;MPOS=27;NALOD=-6.775e-01;NLOD=2.64;POPAF=6.00;TLOD=17.24 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,1:0.096:19:6,1:8,0:2,16,0,1 0/1:34,8:0.210:42:19,6:13,2:2,32,0,8 all chr21 10485582 10485582 T A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs200904442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 106 chr21 10485582 . T A . map_qual;normal_artifact;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=99,48|0,6;DP=160;ECNT=1;GERMQ=93;MBQ=30,37;MFRL=173,266;MMQ=22,25;MPOS=35;NALOD=0.171;NLOD=8.14;POPAF=6.00;TLOD=5.50 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:46,1:0.050:47:16,1:29,0:30,16,0,1 0/1:101,5:0.065:106:51,3:45,2:69,32,0,5 all chr21 10485582 10485582 T A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs200904442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 106 chr21 10485582 . T A . map_qual;normal_artifact;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=99,48|0,6;DP=160;ECNT=1;GERMQ=93;MBQ=30,37;MFRL=173,266;MMQ=22,25;MPOS=35;NALOD=0.171;NLOD=8.14;POPAF=6.00;TLOD=5.50 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:46,1:0.050:47:16,1:29,0:30,16,0,1 0/1:101,5:0.065:106:51,3:45,2:69,32,0,5 all chr21 10485671 10485671 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs368970901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 108 chr21 10485671 . G A . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=92,61|4,3;DP=163;ECNT=2;GERMQ=93;MBQ=34,35;MFRL=191,291;MMQ=26,25;MPOS=16;NALOD=-9.662e-01;NLOD=8.99;POPAF=6.00;TLOD=4.37 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,2:0.057:52:28,2:21,0:33,17,1,1 0/1:103,5:0.058:108:57,2:41,3:59,44,3,2 all chr21 10485671 10485671 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs368970901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 108 chr21 10485671 . G A . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=92,61|4,3;DP=163;ECNT=2;GERMQ=93;MBQ=34,35;MFRL=191,291;MMQ=26,25;MPOS=16;NALOD=-9.662e-01;NLOD=8.99;POPAF=6.00;TLOD=4.37 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,2:0.057:52:28,2:21,0:33,17,1,1 0/1:103,5:0.058:108:57,2:41,3:59,44,3,2 all chr21 10485691 10485691 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs113613822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 109 chr21 10485691 . G A . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=87,69|5,3;DP=178;ECNT=2;GERMQ=93;MBQ=33,36;MFRL=194,279;MMQ=22,25;MPOS=32;NALOD=-1.196e+00;NLOD=8.43;POPAF=6.00;TLOD=5.81 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:53,2:0.058:55:29,2:22,0:34,19,1,1 0/1:103,6:0.067:109:55,3:47,3:53,50,4,2 all chr21 10485691 10485691 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs113613822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 109 chr21 10485691 . G A . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=87,69|5,3;DP=178;ECNT=2;GERMQ=93;MBQ=33,36;MFRL=194,279;MMQ=22,25;MPOS=32;NALOD=-1.196e+00;NLOD=8.43;POPAF=6.00;TLOD=5.81 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:53,2:0.058:55:29,2:22,0:34,19,1,1 0/1:103,6:0.067:109:55,3:47,3:53,50,4,2 all chr21 10491215 10491215 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs79140796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 383 chr21 10491215 . C T . clustered_events;map_qual;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=446,73|8,0;DP=552;ECNT=4;GERMQ=93;MBQ=37,41;MFRL=199,326;MMQ=40,24;MPOS=32;NALOD=0.884;NLOD=35.96;POPAF=6.00;TLOD=5.00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:142,2:0.019:144:66,0:74,2:122,20,2,0 0/1:377,6:0.019:383:204,3:169,3:324,53,6,0 all chr21 10491215 10491215 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs79140796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 383 chr21 10491215 . C T . clustered_events;map_qual;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=446,73|8,0;DP=552;ECNT=4;GERMQ=93;MBQ=37,41;MFRL=199,326;MMQ=40,24;MPOS=32;NALOD=0.884;NLOD=35.96;POPAF=6.00;TLOD=5.00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:142,2:0.019:144:66,0:74,2:122,20,2,0 0/1:377,6:0.019:383:204,3:169,3:324,53,6,0 all chr21 10491323 10491323 C T BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs3880304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 558 chr21 10491323 . C T . clustered_events;normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=344,393|5,6;DP=778;ECNT=4;GERMQ=93;MBQ=35,34;MFRL=188,236;MMQ=49,39;MPOS=2;NALOD=-3.705e+00;NLOD=39.16;POPAF=6.00;TLOD=9.92 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:187,3:0.023:190:86,1:93,2:93,94,1,2 0/1:550,8:0.016:558:268,2:262,6:251,299,4,4 all chr21 10491323 10491323 C T BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs3880304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 558 chr21 10491323 . C T . clustered_events;normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=344,393|5,6;DP=778;ECNT=4;GERMQ=93;MBQ=35,34;MFRL=188,236;MMQ=49,39;MPOS=2;NALOD=-3.705e+00;NLOD=39.16;POPAF=6.00;TLOD=9.92 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:187,3:0.023:190:86,1:93,2:93,94,1,2 0/1:550,8:0.016:558:268,2:262,6:251,299,4,4 all chr21 10491332 10491332 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 501 chr21 10491332 . G A . clustered_events;normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=277,377|6,8;DP=702;ECNT=4;GERMQ=93;MBQ=36,35;MFRL=191,178;MMQ=49,39;MPOS=6;NALOD=-4.925e+00;NLOD=31.26;POPAF=6.00;TLOD=16.89 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:164,3:0.026:167:75,2:86,1:77,87,1,2 0/1:490,11:0.026:501:237,6:241,4:200,290,5,6 all chr21 10491332 10491332 G A BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 501 chr21 10491332 . G A . clustered_events;normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=277,377|6,8;DP=702;ECNT=4;GERMQ=93;MBQ=36,35;MFRL=191,178;MMQ=49,39;MPOS=6;NALOD=-4.925e+00;NLOD=31.26;POPAF=6.00;TLOD=16.89 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:164,3:0.026:167:75,2:86,1:77,87,1,2 0/1:490,11:0.026:501:237,6:241,4:200,290,5,6 all chr21 10491360 10491360 C A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs4441567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 424 chr21 10491360 . C A . clustered_events;map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=190,364|9,11;DP=605;ECNT=4;GERMQ=93;MBQ=35,39;MFRL=200,243;MMQ=44,23;MPOS=14;NALOD=-1.133e+01;NLOD=17.35;POPAF=6.00;TLOD=15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:144,6:0.050:150:68,5:68,1:49,95,3,3 0/1:410,14:0.037:424:203,6:197,8:141,269,6,8 all chr21 10491360 10491360 C A BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs4441567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 424 chr21 10491360 . C A . clustered_events;map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=190,364|9,11;DP=605;ECNT=4;GERMQ=93;MBQ=35,39;MFRL=200,243;MMQ=44,23;MPOS=14;NALOD=-1.133e+01;NLOD=17.35;POPAF=6.00;TLOD=15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:144,6:0.050:150:68,5:68,1:49,95,3,3 0/1:410,14:0.037:424:203,6:197,8:141,269,6,8 all chr21 10491588 10491588 C T BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs598560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 468 chr21 10491588 . C T . map_qual;normal_artifact;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=282,329|1,21;DP=652;ECNT=2;GERMQ=93;MBQ=30,36;MFRL=176,320;MMQ=48,20;MPOS=23;NALOD=-6.025e+00;NLOD=20.58;POPAF=6.00;TLOD=9.06 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:158,7:0.058:165:79,0:78,7:72,86,0,7 0/1:453,15:0.037:468:211,9:226,5:210,243,1,14 all chr21 10491588 10491588 C T BAGE2 RNA SNP ncRNA_exonic BAGE2 . . . 21p11.2 . . . . . . . . rs598560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 468 chr21 10491588 . C T . map_qual;normal_artifact;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=282,329|1,21;DP=652;ECNT=2;GERMQ=93;MBQ=30,36;MFRL=176,320;MMQ=48,20;MPOS=23;NALOD=-6.025e+00;NLOD=20.58;POPAF=6.00;TLOD=9.06 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:158,7:0.058:165:79,0:78,7:72,86,0,7 0/1:453,15:0.037:468:211,9:226,5:210,243,1,14 all chr21 10491679 10491679 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs4353736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 194 chr21 10491679 . C T . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=12,228|0,12;DP=260;ECNT=2;GERMQ=93;MBQ=38,39;MFRL=225,406;MMQ=40,24;MPOS=30;NALOD=-5.137e-01;NLOD=11.70;POPAF=6.00;TLOD=12.63 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:56,2:0.049:58:29,0:25,2:3,53,0,2 0/1:184,10:0.056:194:84,5:97,5:9,175,0,10 all chr21 10491679 10491679 C T BAGE2 RNA SNP ncRNA_intronic BAGE2 . . . 21p11.2 . . . . . . . . rs4353736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 194 chr21 10491679 . C T . map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=12,228|0,12;DP=260;ECNT=2;GERMQ=93;MBQ=38,39;MFRL=225,406;MMQ=40,24;MPOS=30;NALOD=-5.137e-01;NLOD=11.70;POPAF=6.00;TLOD=12.63 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:56,2:0.049:58:29,0:25,2:3,53,0,2 0/1:184,10:0.056:194:84,5:97,5:9,175,0,10 all chr21 10542515 10542515 C A TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 72 chr21 10542515 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=21,75|1,2;DP=103;ECNT=1;GERMQ=93;MBQ=34,20;MFRL=180,145;MMQ=60,60;MPOS=27;NALOD=1.39;NLOD=6.92;POPAF=6.00;TLOD=4.00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:27,0:0.039:27:16,0:11,0:6,21,0,0 0/1:69,3:0.047:72:32,2:36,1:15,54,1,2 all chr21 10542515 10542515 C A TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 72 chr21 10542515 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=21,75|1,2;DP=103;ECNT=1;GERMQ=93;MBQ=34,20;MFRL=180,145;MMQ=60,60;MPOS=27;NALOD=1.39;NLOD=6.92;POPAF=6.00;TLOD=4.00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:27,0:0.039:27:16,0:11,0:6,21,0,0 0/1:69,3:0.047:72:32,2:36,1:15,54,1,2 all chr21 10552637 10552637 T - TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . rs34027183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 938 chr21 10552636 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=788,380|34,18|22,14;DP=1369;ECNT=1;GERMQ=93;MBQ=34,34,20;MFRL=184,214,162;MMQ=60,60,54;MPOS=26,20;NALOD=-1.000e+01,0.870;NLOD=51.80,76.43;POPAF=6.00,6.00;RPA=9,8,10;RU=T;STR;STRQ=1;TLOD=36.61,14.69 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:303,13,2:0.041,9.563e-03:318:146,5,1:143,6,1:209,94,12,3 0/1/2:865,39,34:0.043,0.028:938:401,15,16:414,16,15:579,286,44,29 all chr21 10552637 10552637 - T TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 938 chr21 10552636 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=788,380|34,18|22,14;DP=1369;ECNT=1;GERMQ=93;MBQ=34,34,20;MFRL=184,214,162;MMQ=60,60,54;MPOS=26,20;NALOD=-1.000e+01,0.870;NLOD=51.80,76.43;POPAF=6.00,6.00;RPA=9,8,10;RU=T;STR;STRQ=1;TLOD=36.61,14.69 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:303,13,2:0.041,9.563e-03:318:146,5,1:143,6,1:209,94,12,3 0/1/2:865,39,34:0.043,0.028:938:401,15,16:414,16,15:579,286,44,29 all chr21 10552637 10552637 T - TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . rs34027183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 938 chr21 10552636 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=788,380|34,18|22,14;DP=1369;ECNT=1;GERMQ=93;MBQ=34,34,20;MFRL=184,214,162;MMQ=60,60,54;MPOS=26,20;NALOD=-1.000e+01,0.870;NLOD=51.80,76.43;POPAF=6.00,6.00;RPA=9,8,10;RU=T;STR;STRQ=1;TLOD=36.61,14.69 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:303,13,2:0.041,9.563e-03:318:146,5,1:143,6,1:209,94,12,3 0/1/2:865,39,34:0.043,0.028:938:401,15,16:414,16,15:579,286,44,29 all chr21 10552637 10552637 - T TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 938 chr21 10552636 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=788,380|34,18|22,14;DP=1369;ECNT=1;GERMQ=93;MBQ=34,34,20;MFRL=184,214,162;MMQ=60,60,54;MPOS=26,20;NALOD=-1.000e+01,0.870;NLOD=51.80,76.43;POPAF=6.00,6.00;RPA=9,8,10;RU=T;STR;STRQ=1;TLOD=36.61,14.69 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:303,13,2:0.041,9.563e-03:318:146,5,1:143,6,1:209,94,12,3 0/1/2:865,39,34:0.043,0.028:938:401,15,16:414,16,15:579,286,44,29 all chr21 10560995 10560998 ATTT - TPTE Intron DEL intronic TPTE . . . 21p11.2 . . . . . . . . rs774280173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 594 chr21 10560994 . CATTT C . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=640,144|8,2;DP=951;ECNT=1;GERMQ=93;MBQ=37,38;MFRL=189,184;MMQ=60,60;MPOS=10;NALOD=-3.101e+00;NLOD=44.57;POPAF=6.00;RPA=6,5;RU=ATTT;STR;STRQ=1;TLOD=12.97 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:197,3:0.019:200:77,3:105,0:160,37,2,1 0/1:587,7:0.012:594:289,7:254,0:480,107,6,1 all chr21 10560995 10560998 ATTT - TPTE Intron DEL intronic TPTE . . . 21p11.2 . . . . . . . . rs774280173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 594 chr21 10560994 . CATTT C . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=640,144|8,2;DP=951;ECNT=1;GERMQ=93;MBQ=37,38;MFRL=189,184;MMQ=60,60;MPOS=10;NALOD=-3.101e+00;NLOD=44.57;POPAF=6.00;RPA=6,5;RU=ATTT;STR;STRQ=1;TLOD=12.97 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:197,3:0.019:200:77,3:105,0:160,37,2,1 0/1:587,7:0.012:594:289,7:254,0:480,107,6,1 all chr21 10567467 10567467 T C TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 53 chr21 10567467 . T C . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=66,5|2,0;DP=80;ECNT=1;GERMQ=93;MBQ=37,36;MFRL=311,330;MMQ=60,60;MPOS=47;NALOD=1.35;NLOD=5.93;POPAF=6.00;TLOD=3.23 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:20,0:0.043:20:7,0:10,0:19,1,0,0 0/1:51,2:0.056:53:29,2:18,0:47,4,2,0 all chr21 10567467 10567467 T C TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 53 chr21 10567467 . T C . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=66,5|2,0;DP=80;ECNT=1;GERMQ=93;MBQ=37,36;MFRL=311,330;MMQ=60,60;MPOS=47;NALOD=1.35;NLOD=5.93;POPAF=6.00;TLOD=3.23 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:20,0:0.043:20:7,0:10,0:19,1,0,0 0/1:51,2:0.056:53:29,2:18,0:47,4,2,0 all chr21 10569805 10569805 T - TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . rs541387335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 223 chr21 10569804 . AT A . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=43,248|1,14;DP=397;ECNT=1;GERMQ=93;MBQ=36,35;MFRL=202,231;MMQ=60,60;MPOS=31;NALOD=-8.308e-01;NLOD=15.15;POPAF=6.00;RPA=9,8;RU=T;STR;STRQ=1;TLOD=8.68 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:79,4:0.049:83:32,3:41,1:14,65,1,3 0/1:212,11:0.044:223:97,4:109,7:29,183,0,11 all chr21 10569805 10569805 T - TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . rs541387335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 223 chr21 10569804 . AT A . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=43,248|1,14;DP=397;ECNT=1;GERMQ=93;MBQ=36,35;MFRL=202,231;MMQ=60,60;MPOS=31;NALOD=-8.308e-01;NLOD=15.15;POPAF=6.00;RPA=9,8;RU=T;STR;STRQ=1;TLOD=8.68 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:79,4:0.049:83:32,3:41,1:14,65,1,3 0/1:212,11:0.044:223:97,4:109,7:29,183,0,11 all chr21 10570238 10570238 C A TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 32 chr21 10570238 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=36,3|2,0;DP=41;ECNT=1;GERMQ=93;MBQ=39,39;MFRL=372,344;MMQ=60,60;MPOS=19;NALOD=1.000;NLOD=2.71;POPAF=6.00;TLOD=4.54 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.091:9:4,0:5,0:9,0,0,0 0/1:30,2:0.088:32:8,2:21,0:27,3,2,0 all chr21 10570238 10570238 C A TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 32 chr21 10570238 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=36,3|2,0;DP=41;ECNT=1;GERMQ=93;MBQ=39,39;MFRL=372,344;MMQ=60,60;MPOS=19;NALOD=1.000;NLOD=2.71;POPAF=6.00;TLOD=4.54 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.091:9:4,0:5,0:9,0,0,0 0/1:30,2:0.088:32:8,2:21,0:27,3,2,0 all chr21 10598340 10598340 C A TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 10598340 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,44|0,2;DP=52;ECNT=1;GERMQ=93;MBQ=36,38;MFRL=361,313;MMQ=60,60;MPOS=21;NALOD=1.22;NLOD=4.51;POPAF=6.00;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.057:15:7,0:8,0:1,14,0,0 0/1:32,2:0.083:34:15,0:16,2:2,30,0,2 all chr21 10598340 10598340 C A TPTE Intron SNP intronic TPTE . . . 21p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 10598340 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,44|0,2;DP=52;ECNT=1;GERMQ=93;MBQ=36,38;MFRL=361,313;MMQ=60,60;MPOS=21;NALOD=1.22;NLOD=4.51;POPAF=6.00;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.057:15:7,0:8,0:1,14,0,0 0/1:32,2:0.083:34:15,0:16,2:2,30,0,2 all chr21 13045352 13045352 C A ANKRD30BP2 RNA SNP ncRNA_intronic ANKRD30BP2 . . . 21q11.2 . . . . . . . . rs4553912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 119 chr21 13045352 . C A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=15,131|0,6;DP=159;ECNT=1;GERMQ=93;MBQ=39,36;MFRL=232,166;MMQ=55,27;MPOS=21;NALOD=1.53;NLOD=9.63;POPAF=6.00;TLOD=7.92 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:33,0:0.029:33:19,0:13,0:4,29,0,0 0/1:113,6:0.059:119:57,4:55,2:11,102,0,6 all chr21 13045352 13045352 C A ANKRD30BP2 RNA SNP ncRNA_intronic ANKRD30BP2 . . . 21q11.2 . . . . . . . . rs4553912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 119 chr21 13045352 . C A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=15,131|0,6;DP=159;ECNT=1;GERMQ=93;MBQ=39,36;MFRL=232,166;MMQ=55,27;MPOS=21;NALOD=1.53;NLOD=9.63;POPAF=6.00;TLOD=7.92 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:33,0:0.029:33:19,0:13,0:4,29,0,0 0/1:113,6:0.059:119:57,4:55,2:11,102,0,6 all chr21 13051691 13051691 G A ANKRD30BP2 RNA SNP ncRNA_intronic ANKRD30BP2 . . . 21q11.2 . . . . . . . . rs3119469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 50 chr21 13051691 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=55,2|5,0;DP=62;ECNT=2;GERMQ=93;MBQ=35,39;MFRL=285,263;MMQ=49,24;MPOS=23;NALOD=1.11;NLOD=3.61;POPAF=6.00;TLOD=14.47 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:12,0:0.071:12:6,0:6,0:0|1:13051691_G_A:13051691:11,1,0,0 0|1:45,5:0.115:50:19,3:24,2:0|1:13051691_G_A:13051691:44,1,5,0 all chr21 13051691 13051691 G A ANKRD30BP2 RNA SNP ncRNA_intronic ANKRD30BP2 . . . 21q11.2 . . . . . . . . rs3119469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 50 chr21 13051691 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=55,2|5,0;DP=62;ECNT=2;GERMQ=93;MBQ=35,39;MFRL=285,263;MMQ=49,24;MPOS=23;NALOD=1.11;NLOD=3.61;POPAF=6.00;TLOD=14.47 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:12,0:0.071:12:6,0:6,0:0|1:13051691_G_A:13051691:11,1,0,0 0|1:45,5:0.115:50:19,3:24,2:0|1:13051691_G_A:13051691:44,1,5,0 all chr21 13051721 13051721 G A ANKRD30BP2 RNA SNP ncRNA_intronic ANKRD30BP2 . . . 21q11.2 . . . . . . . . rs10439726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 82 chr21 13051721 . G A . haplotype;map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=88,2|10,0;DP=106;ECNT=2;GERMQ=93;MBQ=37,39;MFRL=279,244;MMQ=40,25;MPOS=35;NALOD=-4.738e-01;NLOD=2.39;POPAF=6.00;TLOD=21.27 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:17,1:0.098:18:8,0:9,1:0|1:13051691_G_A:13051691:16,1,1,0 0|1:73,9:0.119:82:33,6:38,3:0|1:13051691_G_A:13051691:72,1,9,0 all chr21 13051721 13051721 G A ANKRD30BP2 RNA SNP ncRNA_intronic ANKRD30BP2 . . . 21q11.2 . . . . . . . . rs10439726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 82 chr21 13051721 . G A . haplotype;map_qual;normal_artifact AS_FilterStatus=map_qual;AS_SB_TABLE=88,2|10,0;DP=106;ECNT=2;GERMQ=93;MBQ=37,39;MFRL=279,244;MMQ=40,25;MPOS=35;NALOD=-4.738e-01;NLOD=2.39;POPAF=6.00;TLOD=21.27 GT:AD:AF:DP:F1R2:F2R1:PGT:PID:PS:SB 0|0:17,1:0.098:18:8,0:9,1:0|1:13051691_G_A:13051691:16,1,1,0 0|1:73,9:0.119:82:33,6:38,3:0|1:13051691_G_A:13051691:72,1,9,0 all chr21 13443491 13443491 C G MIR3156-3 IGR SNP intergenic MIR3156-3;LINC01674 dist=37031;dist=102542 . . 21q11.2 . . . . . . . . rs370066675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 13443491 . C G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=2,53|0,2;DP=60;ECNT=1;GERMQ=93;MBQ=37,41;MFRL=215,252;MMQ=27,33;MPOS=27;NALOD=1.23;NLOD=4.81;POPAF=6.00;TLOD=3.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:16,0:0.056:16:10,0:5,0:1,15,0,0 0/1:39,2:0.071:41:22,1:16,1:1,38,0,2 all chr21 13443491 13443491 C G MIR3156-3 IGR SNP intergenic MIR3156-3;LINC01674 dist=37031;dist=102542 . . 21q11.2 . . . . . . . . rs370066675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 13443491 . C G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=2,53|0,2;DP=60;ECNT=1;GERMQ=93;MBQ=37,41;MFRL=215,252;MMQ=27,33;MPOS=27;NALOD=1.23;NLOD=4.81;POPAF=6.00;TLOD=3.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:16,0:0.056:16:10,0:5,0:1,15,0,0 0/1:39,2:0.071:41:22,1:16,1:1,38,0,2 all chr21 13528019 13528019 A G MIR3156-3 IGR SNP intergenic MIR3156-3;LINC01674 dist=121559;dist=18014 . . 21q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 33 chr21 13528019 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=16,28|2,2;DP=49;ECNT=1;GERMQ=88;MBQ=35,20;MFRL=188,122;MMQ=33,50;MPOS=14;NALOD=1.17;NLOD=4.16;POPAF=6.00;TLOD=5.69 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.063:15:6,0:8,0:8,7,0,0 0/1:29,4:0.094:33:9,4:17,0:8,21,2,2 all chr21 13528019 13528019 A G MIR3156-3 IGR SNP intergenic MIR3156-3;LINC01674 dist=121559;dist=18014 . . 21q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 33 chr21 13528019 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=16,28|2,2;DP=49;ECNT=1;GERMQ=88;MBQ=35,20;MFRL=188,122;MMQ=33,50;MPOS=14;NALOD=1.17;NLOD=4.16;POPAF=6.00;TLOD=5.69 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.063:15:6,0:8,0:8,7,0,0 0/1:29,4:0.094:33:9,4:17,0:8,21,2,2 all chr21 13937316 13937316 C A LOC110091776 IGR SNP intergenic LOC110091776;ANKRD20A11P dist=3437;dist=6460 . . 21q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 83 chr21 13937316 . C A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=21,89|0,2;DP=116;ECNT=1;GERMQ=93;MBQ=33,38;MFRL=211,217;MMQ=60,60;MPOS=35;NALOD=1.44;NLOD=7.82;POPAF=6.00;TLOD=3.11 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:29,0:0.035:29:10,0:18,0:7,22,0,0 0/1:81,2:0.038:83:44,0:35,2:14,67,0,2 all chr21 13937316 13937316 C A LOC110091776 IGR SNP intergenic LOC110091776;ANKRD20A11P dist=3437;dist=6460 . . 21q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 83 chr21 13937316 . C A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=21,89|0,2;DP=116;ECNT=1;GERMQ=93;MBQ=33,38;MFRL=211,217;MMQ=60,60;MPOS=35;NALOD=1.44;NLOD=7.82;POPAF=6.00;TLOD=3.11 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:29,0:0.035:29:10,0:18,0:7,22,0,0 0/1:81,2:0.038:83:44,0:35,2:14,67,0,2 all chr21 14152751 14152751 - AT LIPI Intron INS intronic LIPI . . . 21q11.2 . . . . . . . . rs571347582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 113 chr21 14152751 . G GAT . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=9,125|1,4;DP=179;ECNT=1;GERMQ=93;MBQ=38,36;MFRL=224,256;MMQ=60,60;MPOS=34;NALOD=-9.063e-01;NLOD=4.03;POPAF=6.00;RPA=6,7;RU=AT;STR;STRQ=1;TLOD=6.21 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,1:0.066:26:6,1:19,0:2,23,0,1 0/1:109,4:0.044:113:53,3:53,1:7,102,1,3 all chr21 14152751 14152751 - AT LIPI Intron INS intronic LIPI . . . 21q11.2 . . . . . . . . rs571347582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 113 chr21 14152751 . G GAT . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=9,125|1,4;DP=179;ECNT=1;GERMQ=93;MBQ=38,36;MFRL=224,256;MMQ=60,60;MPOS=34;NALOD=-9.063e-01;NLOD=4.03;POPAF=6.00;RPA=6,7;RU=AT;STR;STRQ=1;TLOD=6.21 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,1:0.066:26:6,1:19,0:2,23,0,1 0/1:109,4:0.044:113:53,3:53,1:7,102,1,3 all chr21 15864486 15864487 TT - USP25 Intron DEL intronic USP25 . . . 21q21.1 0.0193 0.0160 0.0177 0.0379 0.0247 0.0195 0.028 0.0117 rs772520809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 74 chr21 15864485 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|weak_evidence;AS_SB_TABLE=18,48|0,4|4,15|6,9;DP=126;ECNT=1;GERMQ=1;MBQ=24,34,20,20;MFRL=201,216,194,173;MMQ=60,60,60,60;MPOS=14,23,29;NALOD=0.856,-6.755e+00,-4.505e-01;NLOD=6.63,-4.453e+00,5.23;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=T;STR;STRQ=93;TLOD=6.64,12.53,8.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0,7,1:0.029,0.191,0.061:30:8,0,2,0:10,0,4,1:8,14,3,5 0/1/2/3:44,4,12,14:0.072,0.169,0.148:74:20,2,6,4:13,2,1,6:10,34,7,23 all chr21 15864487 15864487 T - USP25 Intron SNP intronic USP25 . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 74 chr21 15864485 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|weak_evidence;AS_SB_TABLE=18,48|0,4|4,15|6,9;DP=126;ECNT=1;GERMQ=1;MBQ=24,34,20,20;MFRL=201,216,194,173;MMQ=60,60,60,60;MPOS=14,23,29;NALOD=0.856,-6.755e+00,-4.505e-01;NLOD=6.63,-4.453e+00,5.23;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=T;STR;STRQ=93;TLOD=6.64,12.53,8.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0,7,1:0.029,0.191,0.061:30:8,0,2,0:10,0,4,1:8,14,3,5 0/1/2/3:44,4,12,14:0.072,0.169,0.148:74:20,2,6,4:13,2,1,6:10,34,7,23 all chr21 15864487 15864487 - T USP25 Intron SNP intronic USP25 . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 74 chr21 15864485 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|weak_evidence;AS_SB_TABLE=18,48|0,4|4,15|6,9;DP=126;ECNT=1;GERMQ=1;MBQ=24,34,20,20;MFRL=201,216,194,173;MMQ=60,60,60,60;MPOS=14,23,29;NALOD=0.856,-6.755e+00,-4.505e-01;NLOD=6.63,-4.453e+00,5.23;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=T;STR;STRQ=93;TLOD=6.64,12.53,8.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0,7,1:0.029,0.191,0.061:30:8,0,2,0:10,0,4,1:8,14,3,5 0/1/2/3:44,4,12,14:0.072,0.169,0.148:74:20,2,6,4:13,2,1,6:10,34,7,23 all chr21 15864486 15864487 TT - USP25 Intron DEL intronic USP25 . . . 21q21.1 0.0193 0.0160 0.0177 0.0379 0.0247 0.0195 0.028 0.0117 rs772520809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 74 chr21 15864485 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|weak_evidence;AS_SB_TABLE=18,48|0,4|4,15|6,9;DP=126;ECNT=1;GERMQ=1;MBQ=24,34,20,20;MFRL=201,216,194,173;MMQ=60,60,60,60;MPOS=14,23,29;NALOD=0.856,-6.755e+00,-4.505e-01;NLOD=6.63,-4.453e+00,5.23;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=T;STR;STRQ=93;TLOD=6.64,12.53,8.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0,7,1:0.029,0.191,0.061:30:8,0,2,0:10,0,4,1:8,14,3,5 0/1/2/3:44,4,12,14:0.072,0.169,0.148:74:20,2,6,4:13,2,1,6:10,34,7,23 all chr21 15864487 15864487 T - USP25 Intron SNP intronic USP25 . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 74 chr21 15864485 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|weak_evidence;AS_SB_TABLE=18,48|0,4|4,15|6,9;DP=126;ECNT=1;GERMQ=1;MBQ=24,34,20,20;MFRL=201,216,194,173;MMQ=60,60,60,60;MPOS=14,23,29;NALOD=0.856,-6.755e+00,-4.505e-01;NLOD=6.63,-4.453e+00,5.23;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=T;STR;STRQ=93;TLOD=6.64,12.53,8.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0,7,1:0.029,0.191,0.061:30:8,0,2,0:10,0,4,1:8,14,3,5 0/1/2/3:44,4,12,14:0.072,0.169,0.148:74:20,2,6,4:13,2,1,6:10,34,7,23 all chr21 15864487 15864487 - T USP25 Intron SNP intronic USP25 . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 74 chr21 15864485 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|weak_evidence;AS_SB_TABLE=18,48|0,4|4,15|6,9;DP=126;ECNT=1;GERMQ=1;MBQ=24,34,20,20;MFRL=201,216,194,173;MMQ=60,60,60,60;MPOS=14,23,29;NALOD=0.856,-6.755e+00,-4.505e-01;NLOD=6.63,-4.453e+00,5.23;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=T;STR;STRQ=93;TLOD=6.64,12.53,8.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0,7,1:0.029,0.191,0.061:30:8,0,2,0:10,0,4,1:8,14,3,5 0/1/2/3:44,4,12,14:0.072,0.169,0.148:74:20,2,6,4:13,2,1,6:10,34,7,23 all chr21 15877770 15877770 T - USP25 Intron SNP intronic USP25 . . . 21q21.1 0.0768 0.0842 0.0988 0.0970 0.0445 0.0965 0.0720 0.0317 rs752412491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 69 chr21 15877769 . CT C . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=88,4|7,0;DP=107;ECNT=1;GERMQ=93;MBQ=39,37;MFRL=217,188;MMQ=60,60;MPOS=16;NALOD=-2.234e-01;NLOD=5.74;POPAF=6.00;RPA=10,9;RU=T;STR;STRQ=1;TLOD=7.73 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:29,1:0.062:30:16,1:11,0:27,2,1,0 0/1:63,6:0.101:69:26,4:34,2:61,2,6,0 all chr21 15877770 15877770 T - USP25 Intron SNP intronic USP25 . . . 21q21.1 0.0768 0.0842 0.0988 0.0970 0.0445 0.0965 0.0720 0.0317 rs752412491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 69 chr21 15877769 . CT C . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=88,4|7,0;DP=107;ECNT=1;GERMQ=93;MBQ=39,37;MFRL=217,188;MMQ=60,60;MPOS=16;NALOD=-2.234e-01;NLOD=5.74;POPAF=6.00;RPA=10,9;RU=T;STR;STRQ=1;TLOD=7.73 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:29,1:0.062:30:16,1:11,0:27,2,1,0 0/1:63,6:0.101:69:26,4:34,2:61,2,6,0 all chr21 16071096 16071097 TG - MIR99AHG RNA DEL ncRNA_intronic MIR99AHG . . . 21q21.1 6.799e-05 0 0 0 0 9.35e-05 0 0.0001 rs775384565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 53 chr21 16071095 . TTG T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=61,11|4,0;DP=80;ECNT=1;GERMQ=93;MBQ=37,39;MFRL=192,168;MMQ=60,60;MPOS=21;NALOD=1.32;NLOD=6.02;POPAF=6.00;RPA=6,5;RU=TG;STR;STRQ=1;TLOD=5.44 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,0:0.045:23:9,0:14,0:17,6,0,0 0/1:49,4:0.090:53:31,3:17,1:44,5,4,0 all chr21 16071096 16071097 TG - MIR99AHG RNA DEL ncRNA_intronic MIR99AHG . . . 21q21.1 6.799e-05 0 0 0 0 9.35e-05 0 0.0001 rs775384565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 53 chr21 16071095 . TTG T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=61,11|4,0;DP=80;ECNT=1;GERMQ=93;MBQ=37,39;MFRL=192,168;MMQ=60,60;MPOS=21;NALOD=1.32;NLOD=6.02;POPAF=6.00;RPA=6,5;RU=TG;STR;STRQ=1;TLOD=5.44 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:23,0:0.045:23:9,0:14,0:17,6,0,0 0/1:49,4:0.090:53:31,3:17,1:44,5,4,0 all chr21 18256493 18256494 TT - CHODL Intron DEL intronic CHODL . . . 21q21.1 0.0138 0.0113 0.0174 0.0148 0.0137 0.0136 0.0105 0.0131 rs776915040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 131 chr21 18256492 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=74,38|5,4|17,12|16,9;DP=203;ECNT=1;GERMQ=1;MBQ=32,20,31,36;MFRL=203,156,199,196;MMQ=60,60,60,60;MPOS=26,21,29;NALOD=1.08,-1.282e+01,-6.050e+00;NLOD=6.50,-1.087e+01,-2.364e+00;POPAF=6.00,6.00,6.00;RPA=13,11,12,14;RU=T;STR;STRQ=93;TLOD=4.43,20.46,15.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,2,8,9:0.043,0.220,0.169:44:10,1,2,4:9,0,5,2:18,7,11,8 0/1/2/3:87,7,21,16:0.048,0.156,0.123:131:31,3,7,9:35,3,7,3:56,31,27,17 all chr21 18256494 18256494 T - CHODL Intron SNP intronic CHODL . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 131 chr21 18256492 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=74,38|5,4|17,12|16,9;DP=203;ECNT=1;GERMQ=1;MBQ=32,20,31,36;MFRL=203,156,199,196;MMQ=60,60,60,60;MPOS=26,21,29;NALOD=1.08,-1.282e+01,-6.050e+00;NLOD=6.50,-1.087e+01,-2.364e+00;POPAF=6.00,6.00,6.00;RPA=13,11,12,14;RU=T;STR;STRQ=93;TLOD=4.43,20.46,15.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,2,8,9:0.043,0.220,0.169:44:10,1,2,4:9,0,5,2:18,7,11,8 0/1/2/3:87,7,21,16:0.048,0.156,0.123:131:31,3,7,9:35,3,7,3:56,31,27,17 all chr21 18256494 18256494 - T CHODL Intron SNP intronic CHODL . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 131 chr21 18256492 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=74,38|5,4|17,12|16,9;DP=203;ECNT=1;GERMQ=1;MBQ=32,20,31,36;MFRL=203,156,199,196;MMQ=60,60,60,60;MPOS=26,21,29;NALOD=1.08,-1.282e+01,-6.050e+00;NLOD=6.50,-1.087e+01,-2.364e+00;POPAF=6.00,6.00,6.00;RPA=13,11,12,14;RU=T;STR;STRQ=93;TLOD=4.43,20.46,15.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,2,8,9:0.043,0.220,0.169:44:10,1,2,4:9,0,5,2:18,7,11,8 0/1/2/3:87,7,21,16:0.048,0.156,0.123:131:31,3,7,9:35,3,7,3:56,31,27,17 all chr21 18256493 18256494 TT - CHODL Intron DEL intronic CHODL . . . 21q21.1 0.0138 0.0113 0.0174 0.0148 0.0137 0.0136 0.0105 0.0131 rs776915040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 131 chr21 18256492 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=74,38|5,4|17,12|16,9;DP=203;ECNT=1;GERMQ=1;MBQ=32,20,31,36;MFRL=203,156,199,196;MMQ=60,60,60,60;MPOS=26,21,29;NALOD=1.08,-1.282e+01,-6.050e+00;NLOD=6.50,-1.087e+01,-2.364e+00;POPAF=6.00,6.00,6.00;RPA=13,11,12,14;RU=T;STR;STRQ=93;TLOD=4.43,20.46,15.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,2,8,9:0.043,0.220,0.169:44:10,1,2,4:9,0,5,2:18,7,11,8 0/1/2/3:87,7,21,16:0.048,0.156,0.123:131:31,3,7,9:35,3,7,3:56,31,27,17 all chr21 18256494 18256494 T - CHODL Intron SNP intronic CHODL . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 131 chr21 18256492 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=74,38|5,4|17,12|16,9;DP=203;ECNT=1;GERMQ=1;MBQ=32,20,31,36;MFRL=203,156,199,196;MMQ=60,60,60,60;MPOS=26,21,29;NALOD=1.08,-1.282e+01,-6.050e+00;NLOD=6.50,-1.087e+01,-2.364e+00;POPAF=6.00,6.00,6.00;RPA=13,11,12,14;RU=T;STR;STRQ=93;TLOD=4.43,20.46,15.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,2,8,9:0.043,0.220,0.169:44:10,1,2,4:9,0,5,2:18,7,11,8 0/1/2/3:87,7,21,16:0.048,0.156,0.123:131:31,3,7,9:35,3,7,3:56,31,27,17 all chr21 18256494 18256494 - T CHODL Intron SNP intronic CHODL . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 131 chr21 18256492 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=74,38|5,4|17,12|16,9;DP=203;ECNT=1;GERMQ=1;MBQ=32,20,31,36;MFRL=203,156,199,196;MMQ=60,60,60,60;MPOS=26,21,29;NALOD=1.08,-1.282e+01,-6.050e+00;NLOD=6.50,-1.087e+01,-2.364e+00;POPAF=6.00,6.00,6.00;RPA=13,11,12,14;RU=T;STR;STRQ=93;TLOD=4.43,20.46,15.26 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,2,8,9:0.043,0.220,0.169:44:10,1,2,4:9,0,5,2:18,7,11,8 0/1/2/3:87,7,21,16:0.048,0.156,0.123:131:31,3,7,9:35,3,7,3:56,31,27,17 all chr21 18297561 18297561 T C TMPRSS15 Intron SNP intronic TMPRSS15 . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 16 chr21 18297561 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=23,0|2,0;DP=25;ECNT=1;GERMQ=51;MBQ=36,39;MFRL=303,289;MMQ=60,60;MPOS=48;NALOD=0.997;NLOD=2.66;POPAF=6.00;TLOD=5.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.092:9:6,0:2,0:9,0,0,0 0/1:14,2:0.167:16:7,2:7,0:14,0,2,0 all chr21 18297561 18297561 T C TMPRSS15 Intron SNP intronic TMPRSS15 . . . 21q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 16 chr21 18297561 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=23,0|2,0;DP=25;ECNT=1;GERMQ=51;MBQ=36,39;MFRL=303,289;MMQ=60,60;MPOS=48;NALOD=0.997;NLOD=2.66;POPAF=6.00;TLOD=5.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.092:9:6,0:2,0:9,0,0,0 0/1:14,2:0.167:16:7,2:7,0:14,0,2,0 all chr21 19740095 19740095 - A MIR548XHG IGR SNP intergenic MIR548XHG;LINC01683 dist=980283;dist=153184 . . 21q21.1 . . . . . . . . rs144954828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 146 chr21 19740095 . G GA . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=108,80|11,6;DP=241;ECNT=2;GERMQ=93;MBQ=32,32;MFRL=199,169;MMQ=60,60;MPOS=16;NALOD=-1.566e+00;NLOD=7.53;POPAF=6.00;RPA=1,2;RU=A;STR;STRQ=93;TLOD=9.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:55,4:0.072:59:17,1:25,2:33,22,3,1 0/1:133,13:0.088:146:35,5:70,5:75,58,8,5 all chr21 19740095 19740095 - A MIR548XHG IGR SNP intergenic MIR548XHG;LINC01683 dist=980283;dist=153184 . . 21q21.1 . . . . . . . . rs144954828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 146 chr21 19740095 . G GA . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=108,80|11,6;DP=241;ECNT=2;GERMQ=93;MBQ=32,32;MFRL=199,169;MMQ=60,60;MPOS=16;NALOD=-1.566e+00;NLOD=7.53;POPAF=6.00;RPA=1,2;RU=A;STR;STRQ=93;TLOD=9.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:55,4:0.072:59:17,1:25,2:33,22,3,1 0/1:133,13:0.088:146:35,5:70,5:75,58,8,5 all chr21 19740097 19740097 G - MIR548XHG IGR SNP intergenic MIR548XHG;LINC01683 dist=980285;dist=153182 . . 21q21.1 . . . . . . . . rs368731771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 149 chr21 19740096 . AG A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=104,77|16,13;DP=248;ECNT=2;GERMQ=93;MBQ=35,35;MFRL=194,203;MMQ=60,60;MPOS=26;NALOD=-2.285e+00;NLOD=5.73;POPAF=6.00;TLOD=22.29 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:55,6:0.088:61:23,2:29,4:34,21,2,4 0/1:126,23:0.143:149:45,9:76,12:70,56,14,9 all chr21 19740097 19740097 G - MIR548XHG IGR SNP intergenic MIR548XHG;LINC01683 dist=980285;dist=153182 . . 21q21.1 . . . . . . . . rs368731771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 149 chr21 19740096 . AG A . normal_artifact AS_FilterStatus=SITE;AS_SB_TABLE=104,77|16,13;DP=248;ECNT=2;GERMQ=93;MBQ=35,35;MFRL=194,203;MMQ=60,60;MPOS=26;NALOD=-2.285e+00;NLOD=5.73;POPAF=6.00;TLOD=22.29 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:55,6:0.088:61:23,2:29,4:34,21,2,4 0/1:126,23:0.143:149:45,9:76,12:70,56,14,9 all chr21 21410546 21410546 - AT NCAM2 Intron INS intronic NCAM2 . . . 21q21.1 . . . . . . . . rs372718965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 38 chr21 21410546 . C CAT . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,46|0,3;DP=67;ECNT=1;GERMQ=68;MBQ=37,38;MFRL=318,364;MMQ=60,60;MPOS=43;NALOD=1.19;NLOD=3.34;POPAF=6.00;RPA=6,7;RU=AT;STR;STRQ=1;TLOD=5.84 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.064:11:6,0:4,0:0,11,0,0 0/1:35,3:0.097:38:20,0:13,3:0,35,0,3 all chr21 21410546 21410546 - AT NCAM2 Intron INS intronic NCAM2 . . . 21q21.1 . . . . . . . . rs372718965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 38 chr21 21410546 . C CAT . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,46|0,3;DP=67;ECNT=1;GERMQ=68;MBQ=37,38;MFRL=318,364;MMQ=60,60;MPOS=43;NALOD=1.19;NLOD=3.34;POPAF=6.00;RPA=6,7;RU=AT;STR;STRQ=1;TLOD=5.84 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.064:11:6,0:4,0:0,11,0,0 0/1:35,3:0.097:38:20,0:13,3:0,35,0,3 all chr21 25604088 25604088 A - MRPL39 Intron SNP intronic MRPL39 . . . 21q21.3 . . . . . . . . rs11303574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 20 chr21 25604087 . TA T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,27|0,5;DP=43;ECNT=1;GERMQ=3;MBQ=36,33;MFRL=285,250;MMQ=60,60;MPOS=27;NALOD=1.11;NLOD=3.60;POPAF=6.00;RPA=11,10;RU=A;STR;STRQ=1;TLOD=8.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,0:0.071:12:6,0:5,0:0,12,0,0 0/1:15,5:0.269:20:5,3:10,2:0,15,0,5 all chr21 25604088 25604088 A - MRPL39 Intron SNP intronic MRPL39 . . . 21q21.3 . . . . . . . . rs11303574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 20 chr21 25604087 . TA T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,27|0,5;DP=43;ECNT=1;GERMQ=3;MBQ=36,33;MFRL=285,250;MMQ=60,60;MPOS=27;NALOD=1.11;NLOD=3.60;POPAF=6.00;RPA=11,10;RU=A;STR;STRQ=1;TLOD=8.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,0:0.071:12:6,0:5,0:0,12,0,0 0/1:15,5:0.269:20:5,3:10,2:0,15,0,5 all chr21 25693924 25693924 G T JAM2 Intron SNP intronic JAM2 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 86 chr21 25693924 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=42,74|1,2;DP=122;ECNT=1;GERMQ=93;MBQ=35,20;MFRL=213,129;MMQ=60,60;MPOS=30;NALOD=1.52;NLOD=9.63;POPAF=6.00;TLOD=4.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:33,0:0.029:33:21,0:12,0:10,23,0,0 0/1:83,3:0.037:86:33,1:46,2:32,51,1,2 all chr21 25693924 25693924 G T JAM2 Intron SNP intronic JAM2 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 86 chr21 25693924 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=42,74|1,2;DP=122;ECNT=1;GERMQ=93;MBQ=35,20;MFRL=213,129;MMQ=60,60;MPOS=30;NALOD=1.52;NLOD=9.63;POPAF=6.00;TLOD=4.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:33,0:0.029:33:21,0:12,0:10,23,0,0 0/1:83,3:0.037:86:33,1:46,2:32,51,1,2 all chr21 25751966 25751966 - T GABPA Intron SNP intronic GABPA . . . 21q21.3 0.0001 0 8.823e-05 0.0004 0 6.131e-05 0 0.0003 rs762663519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 411 chr21 25751966 . A AT . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=416,145|13,4;DP=627;ECNT=1;GERMQ=93;MBQ=34,28;MFRL=191,171;MMQ=60,60;MPOS=21;NALOD=-1.611e+00;NLOD=33.31;POPAF=6.00;RPA=9,10;RU=T;STR;STRQ=1;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:161,6:0.032:167:80,2:78,4:110,51,5,1 0/1:400,11:0.025:411:191,5:184,5:306,94,8,3 all chr21 25751966 25751966 - T GABPA Intron SNP intronic GABPA . . . 21q21.3 0.0001 0 8.823e-05 0.0004 0 6.131e-05 0 0.0003 rs762663519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 411 chr21 25751966 . A AT . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=416,145|13,4;DP=627;ECNT=1;GERMQ=93;MBQ=34,28;MFRL=191,171;MMQ=60,60;MPOS=21;NALOD=-1.611e+00;NLOD=33.31;POPAF=6.00;RPA=9,10;RU=T;STR;STRQ=1;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:161,6:0.032:167:80,2:78,4:110,51,5,1 0/1:400,11:0.025:411:191,5:184,5:306,94,8,3 all chr21 25758243 25758243 G T GABPA Intron SNP intronic GABPA . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 91 chr21 25758243 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,107|0,3;DP=130;ECNT=1;GERMQ=93;MBQ=38,34;MFRL=236,254;MMQ=60,60;MPOS=22;NALOD=1.49;NLOD=8.73;POPAF=6.00;TLOD=5.25 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:30,0:0.031:30:16,0:14,0:1,29,0,0 0/1:88,3:0.047:91:40,1:46,2:10,78,0,3 all chr21 25758243 25758243 G T GABPA Intron SNP intronic GABPA . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 91 chr21 25758243 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,107|0,3;DP=130;ECNT=1;GERMQ=93;MBQ=38,34;MFRL=236,254;MMQ=60,60;MPOS=22;NALOD=1.49;NLOD=8.73;POPAF=6.00;TLOD=5.25 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:30,0:0.031:30:16,0:14,0:1,29,0,0 0/1:88,3:0.047:91:40,1:46,2:10,78,0,3 all chr21 25764150 25764150 T - GABPA Intron SNP intronic GABPA . . . 21q21.3 . . . . . . . . rs778178173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 68 chr21 25764149 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=64,4|11,2|9,0;DP=105;ECNT=1;GERMQ=45;MBQ=38,34,37;MFRL=255,170,250;MMQ=60,60,60;MPOS=24,41;NALOD=-1.418e+00,-3.739e-01;NLOD=1.24,3.80;POPAF=6.00,6.00;RPA=12,11,13;RU=T;STR;STRQ=1;TLOD=10.01,7.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,3,1:0.135,0.075:22:10,2,0:8,1,1:18,0,4,0 0/1/2:50,10,8:0.131,0.121:68:18,7,7:29,1,1:46,4,16,2 all chr21 25764150 25764150 - T GABPA Intron SNP intronic GABPA . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 68 chr21 25764149 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=64,4|11,2|9,0;DP=105;ECNT=1;GERMQ=45;MBQ=38,34,37;MFRL=255,170,250;MMQ=60,60,60;MPOS=24,41;NALOD=-1.418e+00,-3.739e-01;NLOD=1.24,3.80;POPAF=6.00,6.00;RPA=12,11,13;RU=T;STR;STRQ=1;TLOD=10.01,7.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,3,1:0.135,0.075:22:10,2,0:8,1,1:18,0,4,0 0/1/2:50,10,8:0.131,0.121:68:18,7,7:29,1,1:46,4,16,2 all chr21 25764150 25764150 T - GABPA Intron SNP intronic GABPA . . . 21q21.3 . . . . . . . . rs778178173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 68 chr21 25764149 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=64,4|11,2|9,0;DP=105;ECNT=1;GERMQ=45;MBQ=38,34,37;MFRL=255,170,250;MMQ=60,60,60;MPOS=24,41;NALOD=-1.418e+00,-3.739e-01;NLOD=1.24,3.80;POPAF=6.00,6.00;RPA=12,11,13;RU=T;STR;STRQ=1;TLOD=10.01,7.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,3,1:0.135,0.075:22:10,2,0:8,1,1:18,0,4,0 0/1/2:50,10,8:0.131,0.121:68:18,7,7:29,1,1:46,4,16,2 all chr21 25764150 25764150 - T GABPA Intron SNP intronic GABPA . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 68 chr21 25764149 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=64,4|11,2|9,0;DP=105;ECNT=1;GERMQ=45;MBQ=38,34,37;MFRL=255,170,250;MMQ=60,60,60;MPOS=24,41;NALOD=-1.418e+00,-3.739e-01;NLOD=1.24,3.80;POPAF=6.00,6.00;RPA=12,11,13;RU=T;STR;STRQ=1;TLOD=10.01,7.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,3,1:0.135,0.075:22:10,2,0:8,1,1:18,0,4,0 0/1/2:50,10,8:0.131,0.121:68:18,7,7:29,1,1:46,4,16,2 all chr21 25768982 25768982 - T GABPA Intron SNP intronic GABPA . . . 21q21.3 0.0004 0.0003 8.868e-05 0.0023 0.0002 0.0001 0 0.0005 rs199745049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 181 chr21 25768982 . A AT . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=195,50|6,0;DP=261;ECNT=1;GERMQ=93;MBQ=35,35;MFRL=189,260;MMQ=60,60;MPOS=4;NALOD=1.56;NLOD=20.08;POPAF=6.00;RPA=9,10;RU=T;STR;STRQ=1;TLOD=3.59 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:70,0:0.014:70:41,0:25,0:60,10,0,0 0/1:175,6:0.036:181:95,0:71,6:135,40,6,0 all chr21 25768982 25768982 - T GABPA Intron SNP intronic GABPA . . . 21q21.3 0.0004 0.0003 8.868e-05 0.0023 0.0002 0.0001 0 0.0005 rs199745049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 181 chr21 25768982 . A AT . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=195,50|6,0;DP=261;ECNT=1;GERMQ=93;MBQ=35,35;MFRL=189,260;MMQ=60,60;MPOS=4;NALOD=1.56;NLOD=20.08;POPAF=6.00;RPA=9,10;RU=T;STR;STRQ=1;TLOD=3.59 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:70,0:0.014:70:41,0:25,0:60,10,0,0 0/1:175,6:0.036:181:95,0:71,6:135,40,6,0 all chr21 26089861 26089861 G T APP Intron SNP intronic APP . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 32 chr21 26089861 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=41,0|2,0;DP=43;ECNT=1;GERMQ=93;MBQ=37,38;MFRL=258,378;MMQ=60,60;MPOS=31;NALOD=1.08;NLOD=3.26;POPAF=6.00;TLOD=4.24 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.077:11:7,0:3,0:11,0,0,0 0/1:30,2:0.088:32:17,2:11,0:30,0,2,0 all chr21 26089861 26089861 G T APP Intron SNP intronic APP . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 32 chr21 26089861 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=41,0|2,0;DP=43;ECNT=1;GERMQ=93;MBQ=37,38;MFRL=258,378;MMQ=60,60;MPOS=31;NALOD=1.08;NLOD=3.26;POPAF=6.00;TLOD=4.24 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.077:11:7,0:3,0:11,0,0,0 0/1:30,2:0.088:32:17,2:11,0:30,0,2,0 all chr21 28965832 28965833 AA - LTN1 Intron DEL intronic LTN1 . . . 21q21.3 0.0010 0.0007 0.0020 0.0013 0 0.0008 0.0057 0.0011 rs745577226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 231 chr21 28965831 . CAA C,CA,CAAA . multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=169,70|7,4|21,11|22,25;DP=377;ECNT=1;GERMQ=93;MBQ=35,20,36,31;MFRL=189,163,196,167;MMQ=60,60,60,60;MPOS=16,25,13;NALOD=-6.173e+00,-1.183e+01,-3.706e+00;NLOD=8.83,-3.806e+00,11.63;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=A;STR;STRQ=93;TLOD=5.57,20.50,24.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:76,4,11,7:0.053,0.115,0.065:98:29,2,4,0:30,1,4,4:56,20,12,10 0/1/2/3:163,7,21,40:0.028,0.090,0.129:231:64,5,9,12:63,0,10,8:113,50,38,30 all chr21 28965833 28965833 A - LTN1 Intron SNP intronic LTN1 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 231 chr21 28965831 . CAA C,CA,CAAA . multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=169,70|7,4|21,11|22,25;DP=377;ECNT=1;GERMQ=93;MBQ=35,20,36,31;MFRL=189,163,196,167;MMQ=60,60,60,60;MPOS=16,25,13;NALOD=-6.173e+00,-1.183e+01,-3.706e+00;NLOD=8.83,-3.806e+00,11.63;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=A;STR;STRQ=93;TLOD=5.57,20.50,24.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:76,4,11,7:0.053,0.115,0.065:98:29,2,4,0:30,1,4,4:56,20,12,10 0/1/2/3:163,7,21,40:0.028,0.090,0.129:231:64,5,9,12:63,0,10,8:113,50,38,30 all chr21 28965833 28965833 - A LTN1 Intron SNP intronic LTN1 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 231 chr21 28965831 . CAA C,CA,CAAA . multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=169,70|7,4|21,11|22,25;DP=377;ECNT=1;GERMQ=93;MBQ=35,20,36,31;MFRL=189,163,196,167;MMQ=60,60,60,60;MPOS=16,25,13;NALOD=-6.173e+00,-1.183e+01,-3.706e+00;NLOD=8.83,-3.806e+00,11.63;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=A;STR;STRQ=93;TLOD=5.57,20.50,24.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:76,4,11,7:0.053,0.115,0.065:98:29,2,4,0:30,1,4,4:56,20,12,10 0/1/2/3:163,7,21,40:0.028,0.090,0.129:231:64,5,9,12:63,0,10,8:113,50,38,30 all chr21 28965832 28965833 AA - LTN1 Intron DEL intronic LTN1 . . . 21q21.3 0.0010 0.0007 0.0020 0.0013 0 0.0008 0.0057 0.0011 rs745577226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 231 chr21 28965831 . CAA C,CA,CAAA . multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=169,70|7,4|21,11|22,25;DP=377;ECNT=1;GERMQ=93;MBQ=35,20,36,31;MFRL=189,163,196,167;MMQ=60,60,60,60;MPOS=16,25,13;NALOD=-6.173e+00,-1.183e+01,-3.706e+00;NLOD=8.83,-3.806e+00,11.63;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=A;STR;STRQ=93;TLOD=5.57,20.50,24.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:76,4,11,7:0.053,0.115,0.065:98:29,2,4,0:30,1,4,4:56,20,12,10 0/1/2/3:163,7,21,40:0.028,0.090,0.129:231:64,5,9,12:63,0,10,8:113,50,38,30 all chr21 28965833 28965833 A - LTN1 Intron SNP intronic LTN1 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 231 chr21 28965831 . CAA C,CA,CAAA . multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=169,70|7,4|21,11|22,25;DP=377;ECNT=1;GERMQ=93;MBQ=35,20,36,31;MFRL=189,163,196,167;MMQ=60,60,60,60;MPOS=16,25,13;NALOD=-6.173e+00,-1.183e+01,-3.706e+00;NLOD=8.83,-3.806e+00,11.63;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=A;STR;STRQ=93;TLOD=5.57,20.50,24.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:76,4,11,7:0.053,0.115,0.065:98:29,2,4,0:30,1,4,4:56,20,12,10 0/1/2/3:163,7,21,40:0.028,0.090,0.129:231:64,5,9,12:63,0,10,8:113,50,38,30 all chr21 28965833 28965833 - A LTN1 Intron SNP intronic LTN1 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 231 chr21 28965831 . CAA C,CA,CAAA . multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=169,70|7,4|21,11|22,25;DP=377;ECNT=1;GERMQ=93;MBQ=35,20,36,31;MFRL=189,163,196,167;MMQ=60,60,60,60;MPOS=16,25,13;NALOD=-6.173e+00,-1.183e+01,-3.706e+00;NLOD=8.83,-3.806e+00,11.63;POPAF=6.00,6.00,6.00;RPA=11,9,10,12;RU=A;STR;STRQ=93;TLOD=5.57,20.50,24.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:76,4,11,7:0.053,0.115,0.065:98:29,2,4,0:30,1,4,4:56,20,12,10 0/1/2/3:163,7,21,40:0.028,0.090,0.129:231:64,5,9,12:63,0,10,8:113,50,38,30 all chr21 29027833 29027833 - T USP16 Intron SNP intronic USP16 . . . 21q21.3 0.0053 0.0048 0.0058 0.0058 0.0017 0.0060 0.0049 0.0043 rs758871608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 29027833 . C CT . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=41,9|2,1;DP=59;ECNT=1;GERMQ=80;MBQ=36,34;MFRL=207,216;MMQ=60,60;MPOS=6;NALOD=1.02;NLOD=5.33;POPAF=6.00;RPA=10,11;RU=T;STR;STRQ=1;TLOD=3.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,0:0.048:18:10,0:7,0:15,3,0,0 0/1:32,3:0.111:35:15,1:15,2:26,6,2,1 all chr21 29027833 29027833 - T USP16 Intron SNP intronic USP16 . . . 21q21.3 0.0053 0.0048 0.0058 0.0058 0.0017 0.0060 0.0049 0.0043 rs758871608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 29027833 . C CT . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=41,9|2,1;DP=59;ECNT=1;GERMQ=80;MBQ=36,34;MFRL=207,216;MMQ=60,60;MPOS=6;NALOD=1.02;NLOD=5.33;POPAF=6.00;RPA=10,11;RU=T;STR;STRQ=1;TLOD=3.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,0:0.048:18:10,0:7,0:15,3,0,0 0/1:32,3:0.111:35:15,1:15,2:26,6,2,1 all chr21 29028034 29028034 G T USP16 Intron SNP intronic USP16 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 43 chr21 29028034 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=6,54|0,2;DP=63;ECNT=1;GERMQ=93;MBQ=37,34;MFRL=231,182;MMQ=60,60;MPOS=29;NALOD=1.31;NLOD=5.72;POPAF=6.00;TLOD=3.12 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.047:19:11,0:7,0:2,17,0,0 0/1:41,2:0.070:43:22,0:19,2:4,37,0,2 all chr21 29028034 29028034 G T USP16 Intron SNP intronic USP16 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 43 chr21 29028034 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=6,54|0,2;DP=63;ECNT=1;GERMQ=93;MBQ=37,34;MFRL=231,182;MMQ=60,60;MPOS=29;NALOD=1.31;NLOD=5.72;POPAF=6.00;TLOD=3.12 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.047:19:11,0:7,0:2,17,0,0 0/1:41,2:0.070:43:22,0:19,2:4,37,0,2 all chr21 29038997 29038997 A T USP16 Intron SNP intronic USP16 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 55 chr21 29038997 . A T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=68,11|2,0;DP=84;ECNT=1;GERMQ=93;MBQ=36,37;MFRL=235,193;MMQ=60,60;MPOS=6;NALOD=1.41;NLOD=7.48;POPAF=6.00;TLOD=3.47 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,0:0.037:26:12,0:12,0:20,6,0,0 0/1:53,2:0.054:55:31,0:21,2:48,5,2,0 all chr21 29038997 29038997 A T USP16 Intron SNP intronic USP16 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 55 chr21 29038997 . A T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=68,11|2,0;DP=84;ECNT=1;GERMQ=93;MBQ=36,37;MFRL=235,193;MMQ=60,60;MPOS=6;NALOD=1.41;NLOD=7.48;POPAF=6.00;TLOD=3.47 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,0:0.037:26:12,0:12,0:20,6,0,0 0/1:53,2:0.054:55:31,0:21,2:48,5,2,0 all chr21 29063326 29063326 A - CCT8 Intron SNP intronic CCT8 . . . 21q21.3 0.0455 0.0267 0.0471 0.0381 0.0102 0.0451 0.0486 0.0900 rs763133309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 23 chr21 29063325 . TA T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=28,7|3,0;DP=40;ECNT=1;GERMQ=34;MBQ=33,38;MFRL=221,276;MMQ=60,60;MPOS=28;NALOD=0.770;NLOD=4.05;POPAF=6.00;RPA=11,10;RU=A;STR;STRQ=1;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.061:15:3,0:9,0:12,3,0,0 0/1:20,3:0.166:23:8,2:12,1:16,4,3,0 all chr21 29063326 29063326 A - CCT8 Intron SNP intronic CCT8 . . . 21q21.3 0.0455 0.0267 0.0471 0.0381 0.0102 0.0451 0.0486 0.0900 rs763133309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 23 chr21 29063325 . TA T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=28,7|3,0;DP=40;ECNT=1;GERMQ=34;MBQ=33,38;MFRL=221,276;MMQ=60,60;MPOS=28;NALOD=0.770;NLOD=4.05;POPAF=6.00;RPA=11,10;RU=A;STR;STRQ=1;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.061:15:3,0:9,0:12,3,0,0 0/1:20,3:0.166:23:8,2:12,1:16,4,3,0 all chr21 29067479 29067479 T C CCT8 Intron SNP intronic CCT8 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 44 chr21 29067479 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=55,6|0,2;DP=66;ECNT=1;GERMQ=93;MBQ=37,41;MFRL=241,442;MMQ=60,60;MPOS=26;NALOD=1.29;NLOD=5.42;POPAF=6.00;TLOD=4.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.049:19:9,0:10,0:17,2,0,0 0/1:42,2:0.066:44:26,0:16,2:38,4,0,2 all chr21 29067479 29067479 T C CCT8 Intron SNP intronic CCT8 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 44 chr21 29067479 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=55,6|0,2;DP=66;ECNT=1;GERMQ=93;MBQ=37,41;MFRL=241,442;MMQ=60,60;MPOS=26;NALOD=1.29;NLOD=5.42;POPAF=6.00;TLOD=4.39 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.049:19:9,0:10,0:17,2,0,0 0/1:42,2:0.066:44:26,0:16,2:38,4,0,2 all chr21 29537890 29537890 A - GRIK1 Intron SNP intronic GRIK1 . . . 21q21.3 0.0160 0.0109 0.0128 0.0110 0.0026 0.0165 0.0167 0.0282 rs771014507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 132 chr21 29537889 . TA T,TAA . multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=23,147|2,7|1,7;DP=252;ECNT=2;GERMQ=93;MBQ=27,26,20;MFRL=224,203,173;MMQ=60,60,60;MPOS=36,33;NALOD=-2.735e+00,0.389;NLOD=7.46,13.19;POPAF=6.00,6.00;RPA=10,9,11;RU=A;STR;STRQ=1;TLOD=3.49,4.65 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:51,3,1:0.068,0.032:55:17,1,0:20,0,1:8,43,1,3 0/1/2:119,6,7:0.044,0.050:132:35,6,1:55,0,3:15,104,2,11 all chr21 29537890 29537890 - A GRIK1 Intron SNP intronic GRIK1 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 132 chr21 29537889 . TA T,TAA . multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=23,147|2,7|1,7;DP=252;ECNT=2;GERMQ=93;MBQ=27,26,20;MFRL=224,203,173;MMQ=60,60,60;MPOS=36,33;NALOD=-2.735e+00,0.389;NLOD=7.46,13.19;POPAF=6.00,6.00;RPA=10,9,11;RU=A;STR;STRQ=1;TLOD=3.49,4.65 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:51,3,1:0.068,0.032:55:17,1,0:20,0,1:8,43,1,3 0/1/2:119,6,7:0.044,0.050:132:35,6,1:55,0,3:15,104,2,11 all chr21 29537890 29537890 A - GRIK1 Intron SNP intronic GRIK1 . . . 21q21.3 0.0160 0.0109 0.0128 0.0110 0.0026 0.0165 0.0167 0.0282 rs771014507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 132 chr21 29537889 . TA T,TAA . multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=23,147|2,7|1,7;DP=252;ECNT=2;GERMQ=93;MBQ=27,26,20;MFRL=224,203,173;MMQ=60,60,60;MPOS=36,33;NALOD=-2.735e+00,0.389;NLOD=7.46,13.19;POPAF=6.00,6.00;RPA=10,9,11;RU=A;STR;STRQ=1;TLOD=3.49,4.65 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:51,3,1:0.068,0.032:55:17,1,0:20,0,1:8,43,1,3 0/1/2:119,6,7:0.044,0.050:132:35,6,1:55,0,3:15,104,2,11 all chr21 29537890 29537890 - A GRIK1 Intron SNP intronic GRIK1 . . . 21q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 132 chr21 29537889 . TA T,TAA . multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=23,147|2,7|1,7;DP=252;ECNT=2;GERMQ=93;MBQ=27,26,20;MFRL=224,203,173;MMQ=60,60,60;MPOS=36,33;NALOD=-2.735e+00,0.389;NLOD=7.46,13.19;POPAF=6.00,6.00;RPA=10,9,11;RU=A;STR;STRQ=1;TLOD=3.49,4.65 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:51,3,1:0.068,0.032:55:17,1,0:20,0,1:8,43,1,3 0/1/2:119,6,7:0.044,0.050:132:35,6,1:55,0,3:15,104,2,11 all chr21 29537900 29537900 - A GRIK1 Intron SNP intronic GRIK1 . . . 21q21.3 0.0025 0.0011 0.0017 0.0014 0.0003 0.0018 0.0015 0.0085 rs201052126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 120 chr21 29537900 . G GA . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=19,144|1,7;DP=209;ECNT=2;GERMQ=93;MBQ=33,28;MFRL=224,183;MMQ=60,60;MPOS=24;NALOD=1.46;NLOD=14.35;POPAF=6.00;RPA=9,10;RU=A;STR;STRQ=1;TLOD=5.42 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:51,0:0.018:51:19,0:28,0:9,42,0,0 0/1:112,8:0.063:120:47,5:56,3:10,102,1,7 all chr21 29537900 29537900 - A GRIK1 Intron SNP intronic GRIK1 . . . 21q21.3 0.0025 0.0011 0.0017 0.0014 0.0003 0.0018 0.0015 0.0085 rs201052126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 120 chr21 29537900 . G GA . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=19,144|1,7;DP=209;ECNT=2;GERMQ=93;MBQ=33,28;MFRL=224,183;MMQ=60,60;MPOS=24;NALOD=1.46;NLOD=14.35;POPAF=6.00;RPA=9,10;RU=A;STR;STRQ=1;TLOD=5.42 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:51,0:0.018:51:19,0:28,0:9,42,0,0 0/1:112,8:0.063:120:47,5:56,3:10,102,1,7 all chr21 30263653 30263653 C A CLDN8 IGR SNP intergenic CLDN8;KRTAP24-1 dist=47556;dist=17656 . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 28 chr21 30263653 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25,10|2,0;DP=38;ECNT=1;GERMQ=81;MBQ=32,40;MFRL=230,144;MMQ=60,60;MPOS=22;NALOD=0.954;NLOD=2.41;POPAF=6.00;TLOD=4.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.100:9:7,0:2,0:7,2,0,0 0/1:26,2:0.111:28:18,0:6,2:18,8,2,0 all chr21 30263653 30263653 C A CLDN8 IGR SNP intergenic CLDN8;KRTAP24-1 dist=47556;dist=17656 . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 28 chr21 30263653 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25,10|2,0;DP=38;ECNT=1;GERMQ=81;MBQ=32,40;MFRL=230,144;MMQ=60,60;MPOS=22;NALOD=0.954;NLOD=2.41;POPAF=6.00;TLOD=4.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.100:9:7,0:2,0:7,2,0,0 0/1:26,2:0.111:28:18,0:6,2:18,8,2,0 all chr21 31251642 31251644 AAC - TIAM1 Intron DEL intronic TIAM1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 58 chr21 31251641 . TAAC T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=72,2|1,1;DP=86;ECNT=1;GERMQ=93;MBQ=39,36;MFRL=211,200;MMQ=60,60;MPOS=12;NALOD=1.32;NLOD=5.39;POPAF=6.00;RPA=5,4;RU=AAC;STR;STRQ=1;TLOD=4.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,0:0.046:18:9,0:6,0:17,1,0,0 0/1:56,2:0.050:58:24,0:28,2:55,1,1,1 all chr21 31251642 31251644 AAC - TIAM1 Intron DEL intronic TIAM1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 58 chr21 31251641 . TAAC T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=72,2|1,1;DP=86;ECNT=1;GERMQ=93;MBQ=39,36;MFRL=211,200;MMQ=60,60;MPOS=12;NALOD=1.32;NLOD=5.39;POPAF=6.00;RPA=5,4;RU=AAC;STR;STRQ=1;TLOD=4.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,0:0.046:18:9,0:6,0:17,1,0,0 0/1:56,2:0.050:58:24,0:28,2:55,1,1,1 all chr21 31685032 31685032 A - SCAF4 Intron SNP intronic SCAF4 . . . 21q22.11 0.0020 0.0011 0.0025 0.0015 0.0002 0.0023 0.0015 0.0016 rs771691650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 24 chr21 31685031 . TA T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=28,2|3,0;DP=39;ECNT=1;GERMQ=23;MBQ=35,35;MFRL=210,261;MMQ=60,60;MPOS=7;NALOD=1.02;NLOD=2.70;POPAF=6.00;RPA=9,8;RU=A;STR;STRQ=1;TLOD=4.30 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.088:9:2,0:7,0:9,0,0,0 0/1:21,3:0.158:24:9,1:11,2:19,2,3,0 all chr21 31685032 31685032 A - SCAF4 Intron SNP intronic SCAF4 . . . 21q22.11 0.0020 0.0011 0.0025 0.0015 0.0002 0.0023 0.0015 0.0016 rs771691650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 24 chr21 31685031 . TA T . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=28,2|3,0;DP=39;ECNT=1;GERMQ=23;MBQ=35,35;MFRL=210,261;MMQ=60,60;MPOS=7;NALOD=1.02;NLOD=2.70;POPAF=6.00;RPA=9,8;RU=A;STR;STRQ=1;TLOD=4.30 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.088:9:2,0:7,0:9,0,0,0 0/1:21,3:0.158:24:9,1:11,2:19,2,3,0 all chr21 32268941 32268941 T - MIS18A 3'UTR SNP UTR3 MIS18A NM_018944:c.*96delA . . 21q22.11 . . . . . . . . rs377622439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 32268940 . CT C,CTT . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=28,2|9,0|3,0;DP=54;ECNT=1;GERMQ=1;MBQ=34,33,34;MFRL=219,230,214;MMQ=60,60,60;MPOS=24,23;NALOD=-3.400e+00,0.544;NLOD=-2.637e+00,2.33;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=11.31,5.38 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:6,2,0:0.226,0.080:8:4,2,0:1,0,0:6,0,2,0 0/1/2:24,7,3:0.204,0.107:34:9,4,1:8,3,1:22,2,10,0 all chr21 32268941 32268941 - T MIS18A 3'UTR SNP UTR3 MIS18A NM_018944:c.*95_*96insA;NM_018944:c.*95_*96insA . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 32268940 . CT C,CTT . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=28,2|9,0|3,0;DP=54;ECNT=1;GERMQ=1;MBQ=34,33,34;MFRL=219,230,214;MMQ=60,60,60;MPOS=24,23;NALOD=-3.400e+00,0.544;NLOD=-2.637e+00,2.33;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=11.31,5.38 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:6,2,0:0.226,0.080:8:4,2,0:1,0,0:6,0,2,0 0/1/2:24,7,3:0.204,0.107:34:9,4,1:8,3,1:22,2,10,0 all chr21 32268941 32268941 T - MIS18A 3'UTR SNP UTR3 MIS18A NM_018944:c.*96delA . . 21q22.11 . . . . . . . . rs377622439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 32268940 . CT C,CTT . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=28,2|9,0|3,0;DP=54;ECNT=1;GERMQ=1;MBQ=34,33,34;MFRL=219,230,214;MMQ=60,60,60;MPOS=24,23;NALOD=-3.400e+00,0.544;NLOD=-2.637e+00,2.33;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=11.31,5.38 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:6,2,0:0.226,0.080:8:4,2,0:1,0,0:6,0,2,0 0/1/2:24,7,3:0.204,0.107:34:9,4,1:8,3,1:22,2,10,0 all chr21 32268941 32268941 - T MIS18A 3'UTR SNP UTR3 MIS18A NM_018944:c.*95_*96insA;NM_018944:c.*95_*96insA . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 32268940 . CT C,CTT . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|weak_evidence;AS_SB_TABLE=28,2|9,0|3,0;DP=54;ECNT=1;GERMQ=1;MBQ=34,33,34;MFRL=219,230,214;MMQ=60,60,60;MPOS=24,23;NALOD=-3.400e+00,0.544;NLOD=-2.637e+00,2.33;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=11.31,5.38 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:6,2,0:0.226,0.080:8:4,2,0:1,0,0:6,0,2,0 0/1/2:24,7,3:0.204,0.107:34:9,4,1:8,3,1:22,2,10,0 all chr21 32345318 32345318 A - URB1 Intron SNP intronic URB1 . . . 21q22.11 . . . . . . . . rs199917396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 32345317 . TA T . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=41,11|6,1;DP=71;ECNT=1;GERMQ=48;MBQ=36,37;MFRL=176,165;MMQ=60,60;MPOS=28;NALOD=0.062;NLOD=2.70;POPAF=6.00;RPA=10,9;RU=A;STR;STRQ=1;TLOD=6.87 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,2:0.105:17:11,2:3,0:15,0,1,1 0/1:37,5:0.160:42:25,2:12,3:26,11,5,0 all chr21 32345318 32345318 A - URB1 Intron SNP intronic URB1 . . . 21q22.11 . . . . . . . . rs199917396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 32345317 . TA T . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=41,11|6,1;DP=71;ECNT=1;GERMQ=48;MBQ=36,37;MFRL=176,165;MMQ=60,60;MPOS=28;NALOD=0.062;NLOD=2.70;POPAF=6.00;RPA=10,9;RU=A;STR;STRQ=1;TLOD=6.87 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,2:0.105:17:11,2:3,0:15,0,1,1 0/1:37,5:0.160:42:25,2:12,3:26,11,5,0 all chr21 32694317 32694317 - A SYNJ1 Intron SNP intronic SYNJ1 . . . 21q22.11 0.0076 0.0030 0.0060 0.0121 0.0005 0.0053 0.0122 0.0225 rs202044634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 219 chr21 32694317 . G GA . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=93,187|4,12;DP=358;ECNT=1;GERMQ=93;MBQ=35,32;MFRL=189,207;MMQ=60,60;MPOS=27;NALOD=-8.651e-01;NLOD=13.74;POPAF=6.00;RPA=9,10;RU=A;STR;STRQ=1;TLOD=13.07 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:75,2:0.042:77:33,0:41,2:23,52,0,2 0/1:205,14:0.065:219:117,8:84,6:70,135,4,10 all chr21 32694317 32694317 - A SYNJ1 Intron SNP intronic SYNJ1 . . . 21q22.11 0.0076 0.0030 0.0060 0.0121 0.0005 0.0053 0.0122 0.0225 rs202044634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 219 chr21 32694317 . G GA . normal_artifact;slippage AS_FilterStatus=SITE;AS_SB_TABLE=93,187|4,12;DP=358;ECNT=1;GERMQ=93;MBQ=35,32;MFRL=189,207;MMQ=60,60;MPOS=27;NALOD=-8.651e-01;NLOD=13.74;POPAF=6.00;RPA=9,10;RU=A;STR;STRQ=1;TLOD=13.07 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:75,2:0.042:77:33,0:41,2:23,52,0,2 0/1:205,14:0.065:219:117,8:84,6:70,135,4,10 all chr21 33170020 33170020 A - LINC01548 RNA SNP ncRNA_intronic LINC01548 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 30 chr21 33170019 . GA G,GAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=32,1|9,0|4,0;DP=57;ECNT=1;GERMQ=1;MBQ=38,39,35;MFRL=223,288,195;MMQ=60,60,60;MPOS=24,13;NALOD=-2.641e+00,0.834;NLOD=-2.853e+00,4.52;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=7.83,3.90 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,4,0:0.236,0.049:16:8,1,0:4,3,0:12,0,4,0 0/1/2:21,5,4:0.175,0.139:30:8,2,3:13,3,1:20,1,9,0 all chr21 33170020 33170020 - A LINC01548 RNA SNP ncRNA_intronic LINC01548 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 30 chr21 33170019 . GA G,GAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=32,1|9,0|4,0;DP=57;ECNT=1;GERMQ=1;MBQ=38,39,35;MFRL=223,288,195;MMQ=60,60,60;MPOS=24,13;NALOD=-2.641e+00,0.834;NLOD=-2.853e+00,4.52;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=7.83,3.90 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,4,0:0.236,0.049:16:8,1,0:4,3,0:12,0,4,0 0/1/2:21,5,4:0.175,0.139:30:8,2,3:13,3,1:20,1,9,0 all chr21 33170020 33170020 A - LINC01548 RNA SNP ncRNA_intronic LINC01548 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 30 chr21 33170019 . GA G,GAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=32,1|9,0|4,0;DP=57;ECNT=1;GERMQ=1;MBQ=38,39,35;MFRL=223,288,195;MMQ=60,60,60;MPOS=24,13;NALOD=-2.641e+00,0.834;NLOD=-2.853e+00,4.52;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=7.83,3.90 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,4,0:0.236,0.049:16:8,1,0:4,3,0:12,0,4,0 0/1/2:21,5,4:0.175,0.139:30:8,2,3:13,3,1:20,1,9,0 all chr21 33170020 33170020 - A LINC01548 RNA SNP ncRNA_intronic LINC01548 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 30 chr21 33170019 . GA G,GAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=32,1|9,0|4,0;DP=57;ECNT=1;GERMQ=1;MBQ=38,39,35;MFRL=223,288,195;MMQ=60,60,60;MPOS=24,13;NALOD=-2.641e+00,0.834;NLOD=-2.853e+00,4.52;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=7.83,3.90 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,4,0:0.236,0.049:16:8,1,0:4,3,0:12,0,4,0 0/1/2:21,5,4:0.175,0.139:30:8,2,3:13,3,1:20,1,9,0 all chr21 33283030 33283030 A - IL10RB Intron SNP intronic IL10RB . . . 21q22.11 . . . . . . . . rs373396776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 43 chr21 33283029 . GA G . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=44,14|5,0;DP=64;ECNT=1;GERMQ=67;MBQ=35,38;MFRL=201,229;MMQ=60,60;MPOS=32;NALOD=-2.106e-01;NLOD=3.08;POPAF=6.00;RPA=11,10;RU=A;STR;STRQ=1;TLOD=4.72 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,1:0.091:20:7,0:8,1:15,4,1,0 0/1:39,4:0.118:43:17,2:19,2:29,10,4,0 all chr21 33283030 33283030 A - IL10RB Intron SNP intronic IL10RB . . . 21q22.11 . . . . . . . . rs373396776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 43 chr21 33283029 . GA G . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=44,14|5,0;DP=64;ECNT=1;GERMQ=67;MBQ=35,38;MFRL=201,229;MMQ=60,60;MPOS=32;NALOD=-2.106e-01;NLOD=3.08;POPAF=6.00;RPA=11,10;RU=A;STR;STRQ=1;TLOD=4.72 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,1:0.091:20:7,0:8,1:15,4,1,0 0/1:39,4:0.118:43:17,2:19,2:29,10,4,0 all chr21 33517633 33517633 G T GART Intron SNP intronic GART . . . 21q22.11 8.347e-06 0 0 0 0 1.512e-05 0 0 rs767157521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 33517633 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=10,44|0,2;DP=59;ECNT=1;GERMQ=93;MBQ=35,33;MFRL=183,201;MMQ=60,60;MPOS=21;NALOD=1.17;NLOD=3.87;POPAF=6.00;TLOD=3.09 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.064:15:3,0:10,0:2,13,0,0 0/1:39,2:0.078:41:16,1:23,1:8,31,0,2 all chr21 33517633 33517633 G T GART Intron SNP intronic GART . . . 21q22.11 8.347e-06 0 0 0 0 1.512e-05 0 0 rs767157521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 33517633 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=10,44|0,2;DP=59;ECNT=1;GERMQ=93;MBQ=35,33;MFRL=183,201;MMQ=60,60;MPOS=21;NALOD=1.17;NLOD=3.87;POPAF=6.00;TLOD=3.09 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:15,0:0.064:15:3,0:10,0:2,13,0,0 0/1:39,2:0.078:41:16,1:23,1:8,31,0,2 all chr21 33535223 33535223 A T GART Splice_Site SNP splicing GART NM_001136006:exon3:c.241+2T>A;NM_001136005:exon3:c.241+2T>A;NM_000819:exon3:c.241+2T>A;NM_175085:exon3:c.241+2T>A;NM_001136006:exon3:c.241+2T>A;NM_001136005:exon3:c.241+2T>A;NM_000819:exon3:c.241+2T>A;NM_175085:exon3:c.241+2T>A . . 21q22.11 . . . . . . . . . . . . . . . . . 1 D . . . . . . . 4.758 24.7 0.991 0.994 D . . . . 0.322 0 5.52 1.062 1.199 0.990 0.672 15.944 0.25 . 46 chr21 33535223 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=37,17|2,0;DP=62;ECNT=1;GERMQ=93;MBQ=35,38;MFRL=178,119;MMQ=60,60;MPOS=8;NALOD=1.06;NLOD=3.01;POPAF=6.00;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.081:10:6,0:4,0:8,2,0,0 0/1:44,2:0.071:46:25,0:16,2:29,15,2,0 all chr21 33535223 33535223 A T GART Splice_Site SNP splicing GART NM_001136006:exon3:c.241+2T>A;NM_001136005:exon3:c.241+2T>A;NM_000819:exon3:c.241+2T>A;NM_175085:exon3:c.241+2T>A;NM_001136006:exon3:c.241+2T>A;NM_001136005:exon3:c.241+2T>A;NM_000819:exon3:c.241+2T>A;NM_175085:exon3:c.241+2T>A . . 21q22.11 . . . . . . . . . . . . . . . . . 1 D . . . . . . . 4.758 24.7 0.991 0.994 D . . . . 0.322 0 5.52 1.062 1.199 0.990 0.672 15.944 0.25 . 46 chr21 33535223 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=37,17|2,0;DP=62;ECNT=1;GERMQ=93;MBQ=35,38;MFRL=178,119;MMQ=60,60;MPOS=8;NALOD=1.06;NLOD=3.01;POPAF=6.00;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.081:10:6,0:4,0:8,2,0,0 0/1:44,2:0.071:46:25,0:16,2:29,15,2,0 all chr21 33584854 33584854 G T DONSON Intron SNP intronic DONSON . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 54 chr21 33584854 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,65|0,2;DP=70;ECNT=1;GERMQ=93;MBQ=38,41;MFRL=257,169;MMQ=60,60;MPOS=23;NALOD=1.14;NLOD=3.87;POPAF=6.00;TLOD=4.09 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0:0.067:13:4,0:8,0:0,13,0,0 0/1:52,2:0.053:54:28,0:24,2:0,52,0,2 all chr21 33584854 33584854 G T DONSON Intron SNP intronic DONSON . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 54 chr21 33584854 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,65|0,2;DP=70;ECNT=1;GERMQ=93;MBQ=38,41;MFRL=257,169;MMQ=60,60;MPOS=23;NALOD=1.14;NLOD=3.87;POPAF=6.00;TLOD=4.09 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0:0.067:13:4,0:8,0:0,13,0,0 0/1:52,2:0.053:54:28,0:24,2:0,52,0,2 all chr21 33621816 33621816 C T CRYZL1 Intron SNP intronic CRYZL1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 33621816 . C T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=41,0|2,0;DP=46;ECNT=1;GERMQ=93;MBQ=37,34;MFRL=283,360;MMQ=60,60;MPOS=24;NALOD=1.02;NLOD=2.71;POPAF=6.00;TLOD=3.45 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.088:9:5,0:4,0:9,0,0,0 0/1:32,2:0.083:34:18,2:13,0:32,0,2,0 all chr21 33621816 33621816 C T CRYZL1 Intron SNP intronic CRYZL1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 34 chr21 33621816 . C T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=41,0|2,0;DP=46;ECNT=1;GERMQ=93;MBQ=37,34;MFRL=283,360;MMQ=60,60;MPOS=24;NALOD=1.02;NLOD=2.71;POPAF=6.00;TLOD=3.45 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.088:9:5,0:4,0:9,0,0,0 0/1:32,2:0.083:34:18,2:13,0:32,0,2,0 all chr21 33722545 33722546 TT - ITSN1 Intron DEL intronic ITSN1 . . . 21q22.11 0.0252 0.0223 0.0291 0.0361 0.0223 0.0246 0.0333 0.0217 rs796977287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 98 chr21 33722544 . GTT G,GT,GTTT . multiallelic AS_FilterStatus=SITE|SITE|SITE;AS_SB_TABLE=54,10|12,3|20,2|13,8;DP=165;ECNT=2;GERMQ=75;MBQ=38,36,38,38;MFRL=204,200,229,191;MMQ=60,60,60,60;MPOS=30,27,20;NALOD=0.267,-1.453e+01,0.956;NLOD=0.821,-1.633e+01,5.07;POPAF=6.00,6.00,6.00;RPA=15,13,14,16;RU=T;STR;STRQ=93;TLOD=11.16,15.93,17.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,2,10,1:0.065,0.405,0.040:24:6,0,6,1:2,1,3,0:8,3,10,3 0/1/2/3:53,13,12,20:0.112,0.139,0.200:98:28,6,8,8:18,5,3,7:46,7,35,10 all chr21 33722546 33722546 T - ITSN1 Intron SNP intronic ITSN1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 98 chr21 33722544 . GTT G,GT,GTTT . multiallelic AS_FilterStatus=SITE|SITE|SITE;AS_SB_TABLE=54,10|12,3|20,2|13,8;DP=165;ECNT=2;GERMQ=75;MBQ=38,36,38,38;MFRL=204,200,229,191;MMQ=60,60,60,60;MPOS=30,27,20;NALOD=0.267,-1.453e+01,0.956;NLOD=0.821,-1.633e+01,5.07;POPAF=6.00,6.00,6.00;RPA=15,13,14,16;RU=T;STR;STRQ=93;TLOD=11.16,15.93,17.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,2,10,1:0.065,0.405,0.040:24:6,0,6,1:2,1,3,0:8,3,10,3 0/1/2/3:53,13,12,20:0.112,0.139,0.200:98:28,6,8,8:18,5,3,7:46,7,35,10 all chr21 33722546 33722546 - T ITSN1 Intron SNP intronic ITSN1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 98 chr21 33722544 . GTT G,GT,GTTT . multiallelic AS_FilterStatus=SITE|SITE|SITE;AS_SB_TABLE=54,10|12,3|20,2|13,8;DP=165;ECNT=2;GERMQ=75;MBQ=38,36,38,38;MFRL=204,200,229,191;MMQ=60,60,60,60;MPOS=30,27,20;NALOD=0.267,-1.453e+01,0.956;NLOD=0.821,-1.633e+01,5.07;POPAF=6.00,6.00,6.00;RPA=15,13,14,16;RU=T;STR;STRQ=93;TLOD=11.16,15.93,17.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,2,10,1:0.065,0.405,0.040:24:6,0,6,1:2,1,3,0:8,3,10,3 0/1/2/3:53,13,12,20:0.112,0.139,0.200:98:28,6,8,8:18,5,3,7:46,7,35,10 all chr21 33722545 33722546 TT - ITSN1 Intron DEL intronic ITSN1 . . . 21q22.11 0.0252 0.0223 0.0291 0.0361 0.0223 0.0246 0.0333 0.0217 rs796977287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 98 chr21 33722544 . GTT G,GT,GTTT . multiallelic AS_FilterStatus=SITE|SITE|SITE;AS_SB_TABLE=54,10|12,3|20,2|13,8;DP=165;ECNT=2;GERMQ=75;MBQ=38,36,38,38;MFRL=204,200,229,191;MMQ=60,60,60,60;MPOS=30,27,20;NALOD=0.267,-1.453e+01,0.956;NLOD=0.821,-1.633e+01,5.07;POPAF=6.00,6.00,6.00;RPA=15,13,14,16;RU=T;STR;STRQ=93;TLOD=11.16,15.93,17.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,2,10,1:0.065,0.405,0.040:24:6,0,6,1:2,1,3,0:8,3,10,3 0/1/2/3:53,13,12,20:0.112,0.139,0.200:98:28,6,8,8:18,5,3,7:46,7,35,10 all chr21 33722546 33722546 T - ITSN1 Intron SNP intronic ITSN1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 98 chr21 33722544 . GTT G,GT,GTTT . multiallelic AS_FilterStatus=SITE|SITE|SITE;AS_SB_TABLE=54,10|12,3|20,2|13,8;DP=165;ECNT=2;GERMQ=75;MBQ=38,36,38,38;MFRL=204,200,229,191;MMQ=60,60,60,60;MPOS=30,27,20;NALOD=0.267,-1.453e+01,0.956;NLOD=0.821,-1.633e+01,5.07;POPAF=6.00,6.00,6.00;RPA=15,13,14,16;RU=T;STR;STRQ=93;TLOD=11.16,15.93,17.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,2,10,1:0.065,0.405,0.040:24:6,0,6,1:2,1,3,0:8,3,10,3 0/1/2/3:53,13,12,20:0.112,0.139,0.200:98:28,6,8,8:18,5,3,7:46,7,35,10 all chr21 33722546 33722546 - T ITSN1 Intron SNP intronic ITSN1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 98 chr21 33722544 . GTT G,GT,GTTT . multiallelic AS_FilterStatus=SITE|SITE|SITE;AS_SB_TABLE=54,10|12,3|20,2|13,8;DP=165;ECNT=2;GERMQ=75;MBQ=38,36,38,38;MFRL=204,200,229,191;MMQ=60,60,60,60;MPOS=30,27,20;NALOD=0.267,-1.453e+01,0.956;NLOD=0.821,-1.633e+01,5.07;POPAF=6.00,6.00,6.00;RPA=15,13,14,16;RU=T;STR;STRQ=93;TLOD=11.16,15.93,17.71 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,2,10,1:0.065,0.405,0.040:24:6,0,6,1:2,1,3,0:8,3,10,3 0/1/2/3:53,13,12,20:0.112,0.139,0.200:98:28,6,8,8:18,5,3,7:46,7,35,10 all chr21 33810783 33810783 G T ITSN1 Intron SNP intronic ITSN1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 18 chr21 33810783 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=27,1|2,0;DP=30;ECNT=1;GERMQ=66;MBQ=39,39;MFRL=301,292;MMQ=60,60;MPOS=22;NALOD=1.11;NLOD=3.61;POPAF=6.00;TLOD=5.29 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,0:0.071:12:6,0:6,0:12,0,0,0 0/1:16,2:0.150:18:9,2:7,0:15,1,2,0 all chr21 33810783 33810783 G T ITSN1 Intron SNP intronic ITSN1 . . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 18 chr21 33810783 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=27,1|2,0;DP=30;ECNT=1;GERMQ=66;MBQ=39,39;MFRL=301,292;MMQ=60,60;MPOS=22;NALOD=1.11;NLOD=3.61;POPAF=6.00;TLOD=5.29 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:12,0:0.071:12:6,0:6,0:12,0,0,0 0/1:16,2:0.150:18:9,2:7,0:15,1,2,0 all chr21 34099720 34099720 T A SLC5A3 3'UTR SNP UTR3 SLC5A3 NM_006933:c.*2365T>A . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 34099720 . T A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=22,28|2,0;DP=56;ECNT=1;GERMQ=93;MBQ=35,37;MFRL=223,293;MMQ=60,60;MPOS=28;NALOD=1.23;NLOD=4.51;POPAF=6.00;TLOD=4.00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:16,0:0.056:16:7,0:9,0:9,7,0,0 0/1:34,2:0.086:36:14,2:18,0:13,21,2,0 all chr21 34099720 34099720 T A SLC5A3 3'UTR SNP UTR3 SLC5A3 NM_006933:c.*2365T>A . . 21q22.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 34099720 . T A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=22,28|2,0;DP=56;ECNT=1;GERMQ=93;MBQ=35,37;MFRL=223,293;MMQ=60,60;MPOS=28;NALOD=1.23;NLOD=4.51;POPAF=6.00;TLOD=4.00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:16,0:0.056:16:7,0:9,0:9,7,0,0 0/1:34,2:0.086:36:14,2:18,0:13,21,2,0 all chr21 34893027 34893028 TT - RUNX1 Intron DEL intronic RUNX1 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 34893026 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=17,100|3,5|7,21|4,18;DP=253;ECNT=1;GERMQ=1;MBQ=25,26,34,26;MFRL=222,270,193,238;MMQ=60,60,60,60;MPOS=24,26,22;NALOD=-2.159e+00,-1.476e+01,-3.187e+00;NLOD=-1.219e-01,-1.608e+01,3.53;POPAF=6.00,6.00,6.00;RPA=12,10,11,13;RU=T;STR;STRQ=93;TLOD=5.17,20.90,15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,4,10,3:0.081,0.241,0.088:42:9,4,4,1:10,0,6,2:3,22,4,13 0/1/2/3:92,4,18,19:0.037,0.131,0.124:133:40,2,6,9:33,0,11,6:14,78,10,31 all chr21 34893028 34893028 T - RUNX1 Intron SNP intronic RUNX1 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 34893026 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=17,100|3,5|7,21|4,18;DP=253;ECNT=1;GERMQ=1;MBQ=25,26,34,26;MFRL=222,270,193,238;MMQ=60,60,60,60;MPOS=24,26,22;NALOD=-2.159e+00,-1.476e+01,-3.187e+00;NLOD=-1.219e-01,-1.608e+01,3.53;POPAF=6.00,6.00,6.00;RPA=12,10,11,13;RU=T;STR;STRQ=93;TLOD=5.17,20.90,15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,4,10,3:0.081,0.241,0.088:42:9,4,4,1:10,0,6,2:3,22,4,13 0/1/2/3:92,4,18,19:0.037,0.131,0.124:133:40,2,6,9:33,0,11,6:14,78,10,31 all chr21 34893028 34893028 - T RUNX1 Intron SNP intronic RUNX1 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 34893026 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=17,100|3,5|7,21|4,18;DP=253;ECNT=1;GERMQ=1;MBQ=25,26,34,26;MFRL=222,270,193,238;MMQ=60,60,60,60;MPOS=24,26,22;NALOD=-2.159e+00,-1.476e+01,-3.187e+00;NLOD=-1.219e-01,-1.608e+01,3.53;POPAF=6.00,6.00,6.00;RPA=12,10,11,13;RU=T;STR;STRQ=93;TLOD=5.17,20.90,15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,4,10,3:0.081,0.241,0.088:42:9,4,4,1:10,0,6,2:3,22,4,13 0/1/2/3:92,4,18,19:0.037,0.131,0.124:133:40,2,6,9:33,0,11,6:14,78,10,31 all chr21 34893027 34893028 TT - RUNX1 Intron DEL intronic RUNX1 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 34893026 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=17,100|3,5|7,21|4,18;DP=253;ECNT=1;GERMQ=1;MBQ=25,26,34,26;MFRL=222,270,193,238;MMQ=60,60,60,60;MPOS=24,26,22;NALOD=-2.159e+00,-1.476e+01,-3.187e+00;NLOD=-1.219e-01,-1.608e+01,3.53;POPAF=6.00,6.00,6.00;RPA=12,10,11,13;RU=T;STR;STRQ=93;TLOD=5.17,20.90,15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,4,10,3:0.081,0.241,0.088:42:9,4,4,1:10,0,6,2:3,22,4,13 0/1/2/3:92,4,18,19:0.037,0.131,0.124:133:40,2,6,9:33,0,11,6:14,78,10,31 all chr21 34893028 34893028 T - RUNX1 Intron SNP intronic RUNX1 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 34893026 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=17,100|3,5|7,21|4,18;DP=253;ECNT=1;GERMQ=1;MBQ=25,26,34,26;MFRL=222,270,193,238;MMQ=60,60,60,60;MPOS=24,26,22;NALOD=-2.159e+00,-1.476e+01,-3.187e+00;NLOD=-1.219e-01,-1.608e+01,3.53;POPAF=6.00,6.00,6.00;RPA=12,10,11,13;RU=T;STR;STRQ=93;TLOD=5.17,20.90,15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,4,10,3:0.081,0.241,0.088:42:9,4,4,1:10,0,6,2:3,22,4,13 0/1/2/3:92,4,18,19:0.037,0.131,0.124:133:40,2,6,9:33,0,11,6:14,78,10,31 all chr21 34893028 34893028 - T RUNX1 Intron SNP intronic RUNX1 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 133 chr21 34893026 . CTT C,CT,CTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE;AS_SB_TABLE=17,100|3,5|7,21|4,18;DP=253;ECNT=1;GERMQ=1;MBQ=25,26,34,26;MFRL=222,270,193,238;MMQ=60,60,60,60;MPOS=24,26,22;NALOD=-2.159e+00,-1.476e+01,-3.187e+00;NLOD=-1.219e-01,-1.608e+01,3.53;POPAF=6.00,6.00,6.00;RPA=12,10,11,13;RU=T;STR;STRQ=93;TLOD=5.17,20.90,15.04 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,4,10,3:0.081,0.241,0.088:42:9,4,4,1:10,0,6,2:3,22,4,13 0/1/2/3:92,4,18,19:0.037,0.131,0.124:133:40,2,6,9:33,0,11,6:14,78,10,31 all chr21 36208660 36208660 G T DOP1B Intron SNP intronic DOP1B . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 36208660 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=48,9|2,0;DP=60;ECNT=1;GERMQ=93;MBQ=34,35;MFRL=192,227;MMQ=60,60;MPOS=6;NALOD=1.23;NLOD=4.72;POPAF=6.00;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,0:0.056:18:11,0:5,0:14,4,0,0 0/1:39,2:0.073:41:21,2:18,0:34,5,2,0 all chr21 36208660 36208660 G T DOP1B Intron SNP intronic DOP1B . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 36208660 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=48,9|2,0;DP=60;ECNT=1;GERMQ=93;MBQ=34,35;MFRL=192,227;MMQ=60,60;MPOS=6;NALOD=1.23;NLOD=4.72;POPAF=6.00;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:18,0:0.056:18:11,0:5,0:14,4,0,0 0/1:39,2:0.073:41:21,2:18,0:34,5,2,0 all chr21 36333768 36333768 T - MORC3 Intron SNP intronic MORC3 . . . 21q22.12 0.0745 0.0454 0.0758 0.0750 0.0385 0.0814 0.0588 0.0826 rs781522847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 36333767 . GT G,GTT . multiallelic;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=1,35|1,5|0,7;DP=81;ECNT=1;GERMQ=20;MBQ=22,34,20;MFRL=189,198,204;MMQ=60,60,60;MPOS=28,33;NALOD=-1.305e+00,0.788;NLOD=-1.113e-02,3.51;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=3.76,7.89 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,2,0:0.161,0.056:12:5,1,0:2,1,0:0,10,0,2 0/1/2:26,4,7:0.100,0.188:37:8,1,3:11,3,2:1,25,1,10 all chr21 36333768 36333768 - T MORC3 Intron SNP intronic MORC3 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 36333767 . GT G,GTT . multiallelic;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=1,35|1,5|0,7;DP=81;ECNT=1;GERMQ=20;MBQ=22,34,20;MFRL=189,198,204;MMQ=60,60,60;MPOS=28,33;NALOD=-1.305e+00,0.788;NLOD=-1.113e-02,3.51;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=3.76,7.89 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,2,0:0.161,0.056:12:5,1,0:2,1,0:0,10,0,2 0/1/2:26,4,7:0.100,0.188:37:8,1,3:11,3,2:1,25,1,10 all chr21 36333768 36333768 T - MORC3 Intron SNP intronic MORC3 . . . 21q22.12 0.0745 0.0454 0.0758 0.0750 0.0385 0.0814 0.0588 0.0826 rs781522847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 36333767 . GT G,GTT . multiallelic;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=1,35|1,5|0,7;DP=81;ECNT=1;GERMQ=20;MBQ=22,34,20;MFRL=189,198,204;MMQ=60,60,60;MPOS=28,33;NALOD=-1.305e+00,0.788;NLOD=-1.113e-02,3.51;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=3.76,7.89 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,2,0:0.161,0.056:12:5,1,0:2,1,0:0,10,0,2 0/1/2:26,4,7:0.100,0.188:37:8,1,3:11,3,2:1,25,1,10 all chr21 36333768 36333768 - T MORC3 Intron SNP intronic MORC3 . . . 21q22.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 36333767 . GT G,GTT . multiallelic;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=1,35|1,5|0,7;DP=81;ECNT=1;GERMQ=20;MBQ=22,34,20;MFRL=189,198,204;MMQ=60,60,60;MPOS=28,33;NALOD=-1.305e+00,0.788;NLOD=-1.113e-02,3.51;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=3.76,7.89 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,2,0:0.161,0.056:12:5,1,0:2,1,0:0,10,0,2 0/1/2:26,4,7:0.100,0.188:37:8,1,3:11,3,2:1,25,1,10 all chr21 37088978 37088978 A T TTC3 Intron SNP intronic TTC3 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 85 chr21 37088978 . A T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=2,106|0,2;DP=118;ECNT=1;GERMQ=93;MBQ=37,41;MFRL=221,297;MMQ=60,60;MPOS=39;NALOD=1.41;NLOD=7.18;POPAF=6.00;TLOD=3.50 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,0:0.037:25:12,0:12,0:1,24,0,0 0/1:83,2:0.034:85:39,1:43,1:1,82,0,2 all chr21 37088978 37088978 A T TTC3 Intron SNP intronic TTC3 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 85 chr21 37088978 . A T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=2,106|0,2;DP=118;ECNT=1;GERMQ=93;MBQ=37,41;MFRL=221,297;MMQ=60,60;MPOS=39;NALOD=1.41;NLOD=7.18;POPAF=6.00;TLOD=3.50 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:25,0:0.037:25:12,0:12,0:1,24,0,0 0/1:83,2:0.034:85:39,1:43,1:1,82,0,2 all chr21 37152165 37152165 G T TTC3 Intron SNP intronic TTC3 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 37152165 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=5,50|0,2;DP=63;ECNT=1;GERMQ=93;MBQ=37,34;MFRL=296,210;MMQ=60,60;MPOS=3;NALOD=1.26;NLOD=4.77;POPAF=6.00;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:16,0:0.053:16:4,0:11,0:0,16,0,0 0/1:39,2:0.075:41:20,2:18,0:5,34,0,2 all chr21 37152165 37152165 G T TTC3 Intron SNP intronic TTC3 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 41 chr21 37152165 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=5,50|0,2;DP=63;ECNT=1;GERMQ=93;MBQ=37,34;MFRL=296,210;MMQ=60,60;MPOS=3;NALOD=1.26;NLOD=4.77;POPAF=6.00;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:16,0:0.053:16:4,0:11,0:0,16,0,0 0/1:39,2:0.075:41:20,2:18,0:5,34,0,2 all chr21 37182948 37182948 A - TTC3 Intron SNP intronic TTC3 . . . 21q22.13 0.0008 0 0.0014 0.0010 0 0.0007 0 0.0014 rs747884972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 374 chr21 37182947 . TA T . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=112,377|4,11;DP=596;ECNT=1;GERMQ=93;MBQ=35,33;MFRL=205,219;MMQ=60,60;MPOS=25;NALOD=-5.740e-01;NLOD=25.83;POPAF=6.00;RPA=9,8;RU=A;STR;STRQ=1;TLOD=7.23 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:125,5:0.031:130:59,2:65,3:33,92,2,3 0/1:364,10:0.028:374:182,4:178,5:79,285,2,8 all chr21 37182948 37182948 A - TTC3 Intron SNP intronic TTC3 . . . 21q22.13 0.0008 0 0.0014 0.0010 0 0.0007 0 0.0014 rs747884972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 374 chr21 37182947 . TA T . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=112,377|4,11;DP=596;ECNT=1;GERMQ=93;MBQ=35,33;MFRL=205,219;MMQ=60,60;MPOS=25;NALOD=-5.740e-01;NLOD=25.83;POPAF=6.00;RPA=9,8;RU=A;STR;STRQ=1;TLOD=7.23 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:125,5:0.031:130:59,2:65,3:33,92,2,3 0/1:364,10:0.028:374:182,4:178,5:79,285,2,8 all chr21 37192230 37192232 TTT - TTC3-AS1 RNA DEL ncRNA_intronic TTC3-AS1 . . . 21q22.13 0.0001 0 0.0007 0 0 8.192e-05 0 0 rs769178475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192231 37192232 TT - TTC3-AS1 RNA DEL ncRNA_intronic TTC3-AS1 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192232 37192232 T - TTC3-AS1 RNA SNP ncRNA_intronic TTC3-AS1 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192232 37192232 - T TTC3-AS1 RNA SNP ncRNA_intronic TTC3-AS1 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192230 37192232 TTT - TTC3-AS1 RNA DEL ncRNA_intronic TTC3-AS1 . . . 21q22.13 0.0001 0 0.0007 0 0 8.192e-05 0 0 rs769178475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192231 37192232 TT - TTC3-AS1 RNA DEL ncRNA_intronic TTC3-AS1 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192232 37192232 T - TTC3-AS1 RNA SNP ncRNA_intronic TTC3-AS1 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37192232 37192232 - T TTC3-AS1 RNA SNP ncRNA_intronic TTC3-AS1 . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 128 chr21 37192229 . CTTT C,CT,CTT,CTTTT . germline;multiallelic;normal_artifact AS_FilterStatus=weak_evidence|SITE|SITE|SITE;AS_SB_TABLE=39,64|4,1|2,8|16,20|6,11;DP=262;ECNT=1;GERMQ=1;MBQ=20,38,33,24,20;MFRL=208,213,219,196,192;MMQ=60,60,60,60,60;MPOS=37,41,25,24;NALOD=0.627,-2.342e+00,-9.237e+00,0.298;NLOD=7.21,0.590,-9.296e+00,7.21;POPAF=6.00,6.00,6.00,6.00;RPA=14,11,12,13,15;RU=T;STR;STRQ=93;TLOD=6.33,11.63,27.46,10.96 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:26,1,2,10,4:0.037,0.069,0.202,0.061:43:11,0,0,3,0:9,1,2,3,1:10,16,6,11 0/1/2/3/4:77,4,8,26,13:0.039,0.073,0.198,0.097:128:29,3,4,13,3:24,1,4,10,4:29,48,22,29 all chr21 37238410 37238410 G T VPS26C Intron SNP intronic VPS26C . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 53 chr21 37238410 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=49,9|3,0;DP=64;ECNT=1;GERMQ=93;MBQ=35,33;MFRL=194,269;MMQ=60,60;MPOS=35;NALOD=0.971;NLOD=2.36;POPAF=6.00;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:8,0:0.097:8:5,0:2,0:7,1,0,0 0/1:50,3:0.081:53:24,3:25,0:42,8,3,0 all chr21 37238410 37238410 G T VPS26C Intron SNP intronic VPS26C . . . 21q22.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 53 chr21 37238410 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=49,9|3,0;DP=64;ECNT=1;GERMQ=93;MBQ=35,33;MFRL=194,269;MMQ=60,60;MPOS=35;NALOD=0.971;NLOD=2.36;POPAF=6.00;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:8,0:0.097:8:5,0:2,0:7,1,0,0 0/1:50,3:0.081:53:24,3:25,0:42,8,3,0 all chr21 38810014 38810014 T - ETS2 Intron SNP intronic ETS2 . . . 21q22.2 0.1461 0.1317 0.1743 0.2919 0.0838 0.1445 0.1203 0.1047 rs3833351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 175 chr21 38810013 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=160,19|28,0|21,7;DP=269;ECNT=1;GERMQ=93;MBQ=37,37,37;MFRL=204,183,191;MMQ=60,60,60;MPOS=23,19;NALOD=-6.142e+00,-5.427e+00;NLOD=2.89,3.68;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=30.19,28.13 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,5,5:0.097,0.096:60:25,3,5:20,1,0:44,6,9,1 0/1/2:129,23,23:0.130,0.132:175:69,11,14:56,12,5:116,13,40,6 all chr21 38810014 38810014 - T ETS2 Intron SNP intronic ETS2 . . . 21q22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 175 chr21 38810013 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=160,19|28,0|21,7;DP=269;ECNT=1;GERMQ=93;MBQ=37,37,37;MFRL=204,183,191;MMQ=60,60,60;MPOS=23,19;NALOD=-6.142e+00,-5.427e+00;NLOD=2.89,3.68;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=30.19,28.13 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,5,5:0.097,0.096:60:25,3,5:20,1,0:44,6,9,1 0/1/2:129,23,23:0.130,0.132:175:69,11,14:56,12,5:116,13,40,6 all chr21 38810014 38810014 T - ETS2 Intron SNP intronic ETS2 . . . 21q22.2 0.1461 0.1317 0.1743 0.2919 0.0838 0.1445 0.1203 0.1047 rs3833351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 175 chr21 38810013 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=160,19|28,0|21,7;DP=269;ECNT=1;GERMQ=93;MBQ=37,37,37;MFRL=204,183,191;MMQ=60,60,60;MPOS=23,19;NALOD=-6.142e+00,-5.427e+00;NLOD=2.89,3.68;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=30.19,28.13 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,5,5:0.097,0.096:60:25,3,5:20,1,0:44,6,9,1 0/1/2:129,23,23:0.130,0.132:175:69,11,14:56,12,5:116,13,40,6 all chr21 38810014 38810014 - T ETS2 Intron SNP intronic ETS2 . . . 21q22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 175 chr21 38810013 . CT C,CTT . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=160,19|28,0|21,7;DP=269;ECNT=1;GERMQ=93;MBQ=37,37,37;MFRL=204,183,191;MMQ=60,60,60;MPOS=23,19;NALOD=-6.142e+00,-5.427e+00;NLOD=2.89,3.68;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=30.19,28.13 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,5,5:0.097,0.096:60:25,3,5:20,1,0:44,6,9,1 0/1/2:129,23,23:0.130,0.132:175:69,11,14:56,12,5:116,13,40,6 all chr21 38810126 38810126 T - ETS2 Intron SNP intronic ETS2 . . . 21q22.2 0.0223 0.0103 0.0235 0.0164 0.0035 0.0225 0.0138 0.0465 rs760083655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 289 chr21 38810125 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=102,244|11,15|6,16;DP=539;ECNT=1;GERMQ=93;MBQ=31,22,30;MFRL=187,182,196;MMQ=60,60,60;MPOS=22,22;NALOD=-9.360e+00,-5.964e-01;NLOD=5.75,19.21;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=6.21,10.05 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:89,11,5:0.097,0.039:105:49,5,3:31,6,1:26,63,5,11 0/1/2:257,15,17:0.039,0.054:289:129,10,7:116,4,7:76,181,12,20 all chr21 38810126 38810126 - T ETS2 Intron SNP intronic ETS2 . . . 21q22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 289 chr21 38810125 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=102,244|11,15|6,16;DP=539;ECNT=1;GERMQ=93;MBQ=31,22,30;MFRL=187,182,196;MMQ=60,60,60;MPOS=22,22;NALOD=-9.360e+00,-5.964e-01;NLOD=5.75,19.21;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=6.21,10.05 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:89,11,5:0.097,0.039:105:49,5,3:31,6,1:26,63,5,11 0/1/2:257,15,17:0.039,0.054:289:129,10,7:116,4,7:76,181,12,20 all chr21 38810126 38810126 T - ETS2 Intron SNP intronic ETS2 . . . 21q22.2 0.0223 0.0103 0.0235 0.0164 0.0035 0.0225 0.0138 0.0465 rs760083655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 289 chr21 38810125 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=102,244|11,15|6,16;DP=539;ECNT=1;GERMQ=93;MBQ=31,22,30;MFRL=187,182,196;MMQ=60,60,60;MPOS=22,22;NALOD=-9.360e+00,-5.964e-01;NLOD=5.75,19.21;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=6.21,10.05 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:89,11,5:0.097,0.039:105:49,5,3:31,6,1:26,63,5,11 0/1/2:257,15,17:0.039,0.054:289:129,10,7:116,4,7:76,181,12,20 all chr21 38810126 38810126 - T ETS2 Intron SNP intronic ETS2 . . . 21q22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 289 chr21 38810125 . AT A,ATT . multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=102,244|11,15|6,16;DP=539;ECNT=1;GERMQ=93;MBQ=31,22,30;MFRL=187,182,196;MMQ=60,60,60;MPOS=22,22;NALOD=-9.360e+00,-5.964e-01;NLOD=5.75,19.21;POPAF=6.00,6.00;RPA=11,10,12;RU=T;STR;STRQ=1;TLOD=6.21,10.05 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:89,11,5:0.097,0.039:105:49,5,3:31,6,1:26,63,5,11 0/1/2:257,15,17:0.039,0.054:289:129,10,7:116,4,7:76,181,12,20 all chr21 39278702 39278702 A - BRWD1 Intron SNP intronic BRWD1 . . . 21q22.2 0.0240 0.0147 0.0221 0.0207 0.0023 0.0281 0.0266 0.0272 rs111898109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 145 chr21 39278701 . TA T,TAA . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=148,18|12,5|25,4;DP=257;ECNT=1;GERMQ=91;MBQ=38,35,39;MFRL=206,178,207;MMQ=60,60,60;MPOS=26,28;NALOD=-5.173e+00,-1.146e+01;NLOD=5.95,-5.756e+00;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=9.69,19.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,6,11:0.085,0.165:67:27,1,5:22,4,6:47,3,14,3 0/1/2:116,11,18:0.070,0.122:145:61,8,8:53,3,8:101,15,23,6 all chr21 39278702 39278702 - A BRWD1 Intron SNP intronic BRWD1 . . . 21q22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 145 chr21 39278701 . TA T,TAA . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=148,18|12,5|25,4;DP=257;ECNT=1;GERMQ=91;MBQ=38,35,39;MFRL=206,178,207;MMQ=60,60,60;MPOS=26,28;NALOD=-5.173e+00,-1.146e+01;NLOD=5.95,-5.756e+00;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=9.69,19.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,6,11:0.085,0.165:67:27,1,5:22,4,6:47,3,14,3 0/1/2:116,11,18:0.070,0.122:145:61,8,8:53,3,8:101,15,23,6 all chr21 39278702 39278702 A - BRWD1 Intron SNP intronic BRWD1 . . . 21q22.2 0.0240 0.0147 0.0221 0.0207 0.0023 0.0281 0.0266 0.0272 rs111898109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 145 chr21 39278701 . TA T,TAA . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=148,18|12,5|25,4;DP=257;ECNT=1;GERMQ=91;MBQ=38,35,39;MFRL=206,178,207;MMQ=60,60,60;MPOS=26,28;NALOD=-5.173e+00,-1.146e+01;NLOD=5.95,-5.756e+00;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=9.69,19.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,6,11:0.085,0.165:67:27,1,5:22,4,6:47,3,14,3 0/1/2:116,11,18:0.070,0.122:145:61,8,8:53,3,8:101,15,23,6 all chr21 39278702 39278702 - A BRWD1 Intron SNP intronic BRWD1 . . . 21q22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 145 chr21 39278701 . TA T,TAA . multiallelic;normal_artifact;slippage AS_FilterStatus=SITE|SITE;AS_SB_TABLE=148,18|12,5|25,4;DP=257;ECNT=1;GERMQ=91;MBQ=38,35,39;MFRL=206,178,207;MMQ=60,60,60;MPOS=26,28;NALOD=-5.173e+00,-1.146e+01;NLOD=5.95,-5.756e+00;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=9.69,19.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:50,6,11:0.085,0.165:67:27,1,5:22,4,6:47,3,14,3 0/1/2:116,11,18:0.070,0.122:145:61,8,8:53,3,8:101,15,23,6 all chr21 41465948 41465948 G T TMPRSS2 3'UTR SNP UTR3 TMPRSS2 NM_005656:c.*194C>A;NM_001135099:c.*194C>A;NM_001382720:c.*172C>A . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 38 chr21 41465948 . G T . position AS_FilterStatus=position;AS_SB_TABLE=55,2|3,0;DP=61;ECNT=1;GERMQ=93;MBQ=35,31;MFRL=262,199;MMQ=60,60;MPOS=0;NALOD=1.37;NLOD=6.62;POPAF=6.00;TLOD=5.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0:0.041:22:12,0:10,0:22,0,0,0 0/1:35,3:0.103:38:14,1:19,2:33,2,3,0 all chr21 41465948 41465948 G T TMPRSS2 3'UTR SNP UTR3 TMPRSS2 NM_005656:c.*194C>A;NM_001135099:c.*194C>A;NM_001382720:c.*172C>A . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 38 chr21 41465948 . G T . position AS_FilterStatus=position;AS_SB_TABLE=55,2|3,0;DP=61;ECNT=1;GERMQ=93;MBQ=35,31;MFRL=262,199;MMQ=60,60;MPOS=0;NALOD=1.37;NLOD=6.62;POPAF=6.00;TLOD=5.34 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:22,0:0.041:22:12,0:10,0:22,0,0,0 0/1:35,3:0.103:38:14,1:19,2:33,2,3,0 all chr21 41466166 41466166 - A TMPRSS2 Intron SNP intronic TMPRSS2 . . . 21q22.3 0.0048 0.0030 0.0057 0.0040 0.0008 0.0043 0.0117 0.0093 rs777944437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 110 chr21 41466166 . G GA . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=36,124|0,8;DP=226;ECNT=1;GERMQ=93;MBQ=34,35;MFRL=187,227;MMQ=60,60;MPOS=33;NALOD=-1.056e+00;NLOD=9.80;POPAF=6.00;RPA=10,11;RU=A;STR;STRQ=1;TLOD=4.83 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:56,2:0.053:58:29,1:23,1:12,44,0,2 0/1:104,6:0.062:110:56,1:46,5:24,80,0,6 all chr21 41466166 41466166 - A TMPRSS2 Intron SNP intronic TMPRSS2 . . . 21q22.3 0.0048 0.0030 0.0057 0.0040 0.0008 0.0043 0.0117 0.0093 rs777944437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 110 chr21 41466166 . G GA . normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=36,124|0,8;DP=226;ECNT=1;GERMQ=93;MBQ=34,35;MFRL=187,227;MMQ=60,60;MPOS=33;NALOD=-1.056e+00;NLOD=9.80;POPAF=6.00;RPA=10,11;RU=A;STR;STRQ=1;TLOD=4.83 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:56,2:0.053:58:29,1:23,1:12,44,0,2 0/1:104,6:0.062:110:56,1:46,5:24,80,0,6 all chr21 42102292 42102292 G T UMODL1-AS1 RNA SNP ncRNA_exonic UMODL1-AS1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 42102292 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=18,36|0,2;DP=60;ECNT=1;GERMQ=93;MBQ=37,35;MFRL=211,163;MMQ=60,60;MPOS=5;NALOD=1.31;NLOD=5.71;POPAF=6.00;TLOD=3.52 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.047:19:7,0:12,0:6,13,0,0 0/1:35,2:0.081:37:13,2:19,0:12,23,0,2 all chr21 42102292 42102292 G T UMODL1-AS1 RNA SNP ncRNA_exonic UMODL1-AS1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 42102292 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=18,36|0,2;DP=60;ECNT=1;GERMQ=93;MBQ=37,35;MFRL=211,163;MMQ=60,60;MPOS=5;NALOD=1.31;NLOD=5.71;POPAF=6.00;TLOD=3.52 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.047:19:7,0:12,0:6,13,0,0 0/1:35,2:0.081:37:13,2:19,0:12,23,0,2 all chr21 42127620 42127620 A G UMODL1 Intron SNP intronic UMODL1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 42127620 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=42,2|2,0;DP=48;ECNT=1;GERMQ=93;MBQ=37,35;MFRL=295,287;MMQ=60,60;MPOS=25;NALOD=1.04;NLOD=3.01;POPAF=6.00;TLOD=4.14 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.083:10:4,0:5,0:10,0,0,0 0/1:34,2:0.080:36:18,0:16,2:32,2,2,0 all chr21 42127620 42127620 A G UMODL1 Intron SNP intronic UMODL1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 42127620 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=42,2|2,0;DP=48;ECNT=1;GERMQ=93;MBQ=37,35;MFRL=295,287;MMQ=60,60;MPOS=25;NALOD=1.04;NLOD=3.01;POPAF=6.00;TLOD=4.14 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.083:10:4,0:5,0:10,0,0,0 0/1:34,2:0.080:36:18,0:16,2:32,2,2,0 all chr21 42554047 42554047 T - SLC37A1 Intron SNP intronic SLC37A1 . . . 21q22.3 0.0355 0.0235 0.0377 0.0303 0.0132 0.0362 0.0333 0.0588 rs745512193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 50 chr21 42554046 . CT C . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=28,28|1,3;DP=67;ECNT=1;GERMQ=83;MBQ=35,36;MFRL=194,189;MMQ=60,60;MPOS=20;NALOD=0.769;NLOD=2.70;POPAF=6.00;RPA=10,9;RU=T;STR;STRQ=1;TLOD=3.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.086:10:6,0:3,0:3,7,0,0 0/1:46,4:0.092:50:24,0:17,4:25,21,1,3 all chr21 42554047 42554047 T - SLC37A1 Intron SNP intronic SLC37A1 . . . 21q22.3 0.0355 0.0235 0.0377 0.0303 0.0132 0.0362 0.0333 0.0588 rs745512193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 50 chr21 42554046 . CT C . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=28,28|1,3;DP=67;ECNT=1;GERMQ=83;MBQ=35,36;MFRL=194,189;MMQ=60,60;MPOS=20;NALOD=0.769;NLOD=2.70;POPAF=6.00;RPA=10,9;RU=T;STR;STRQ=1;TLOD=3.35 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:10,0:0.086:10:6,0:3,0:3,7,0,0 0/1:46,4:0.092:50:24,0:17,4:25,21,1,3 all chr21 42772530 42772530 G T PDE9A Intron SNP intronic PDE9A . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 42772530 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=23,29|0,2;DP=55;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=182,284;MMQ=60,60;MPOS=21;NALOD=1.20;NLOD=4.47;POPAF=6.00;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.059:19:9,0:9,0:9,10,0,0 0/1:33,2:0.091:35:20,0:13,2:14,19,0,2 all chr21 42772530 42772530 G T PDE9A Intron SNP intronic PDE9A . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 42772530 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=23,29|0,2;DP=55;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=182,284;MMQ=60,60;MPOS=21;NALOD=1.20;NLOD=4.47;POPAF=6.00;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.059:19:9,0:9,0:9,10,0,0 0/1:33,2:0.091:35:20,0:13,2:14,19,0,2 all chr21 42896845 42896846 AT - NDUFV3 Intron DEL intronic NDUFV3 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 42896844 . AAT A . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=36,4|2,1;DP=52;ECNT=1;GERMQ=50;MBQ=37,39;MFRL=224,175;MMQ=60,60;MPOS=8;NALOD=1.02;NLOD=2.39;POPAF=6.00;RPA=7,6;RU=AT;STR;STRQ=1;TLOD=4.29 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:8,0:0.089:8:5,0:2,0:7,1,0,0 0/1:32,3:0.111:35:16,1:14,2:29,3,2,1 all chr21 42896845 42896846 AT - NDUFV3 Intron DEL intronic NDUFV3 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 35 chr21 42896844 . AAT A . slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=36,4|2,1;DP=52;ECNT=1;GERMQ=50;MBQ=37,39;MFRL=224,175;MMQ=60,60;MPOS=8;NALOD=1.02;NLOD=2.39;POPAF=6.00;RPA=7,6;RU=AT;STR;STRQ=1;TLOD=4.29 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:8,0:0.089:8:5,0:2,0:7,1,0,0 0/1:32,3:0.111:35:16,1:14,2:29,3,2,1 all chr21 43004238 43004238 A - PKNOX1 Intron SNP intronic PKNOX1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 43004237 . CA C,CAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=31,8|3,0|8,1;DP=64;ECNT=1;GERMQ=1;MBQ=34,38,34;MFRL=159,246,157;MMQ=60,60,60;MPOS=43,22;NALOD=0.922,-5.866e-01;NLOD=3.75,0.945;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=3.64,9.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,1:0.057,0.129:14:5,0,0:8,0,1:11,2,1,0 0/1/2:26,3,8:0.109,0.226:37:10,1,4:11,2,3:20,6,10,1 all chr21 43004238 43004238 - A PKNOX1 Intron SNP intronic PKNOX1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 43004237 . CA C,CAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=31,8|3,0|8,1;DP=64;ECNT=1;GERMQ=1;MBQ=34,38,34;MFRL=159,246,157;MMQ=60,60,60;MPOS=43,22;NALOD=0.922,-5.866e-01;NLOD=3.75,0.945;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=3.64,9.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,1:0.057,0.129:14:5,0,0:8,0,1:11,2,1,0 0/1/2:26,3,8:0.109,0.226:37:10,1,4:11,2,3:20,6,10,1 all chr21 43004238 43004238 A - PKNOX1 Intron SNP intronic PKNOX1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 43004237 . CA C,CAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=31,8|3,0|8,1;DP=64;ECNT=1;GERMQ=1;MBQ=34,38,34;MFRL=159,246,157;MMQ=60,60,60;MPOS=43,22;NALOD=0.922,-5.866e-01;NLOD=3.75,0.945;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=3.64,9.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,1:0.057,0.129:14:5,0,0:8,0,1:11,2,1,0 0/1/2:26,3,8:0.109,0.226:37:10,1,4:11,2,3:20,6,10,1 all chr21 43004238 43004238 - A PKNOX1 Intron SNP intronic PKNOX1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 37 chr21 43004237 . CA C,CAA . germline;multiallelic;normal_artifact;slippage;weak_evidence AS_FilterStatus=weak_evidence|weak_evidence;AS_SB_TABLE=31,8|3,0|8,1;DP=64;ECNT=1;GERMQ=1;MBQ=34,38,34;MFRL=159,246,157;MMQ=60,60,60;MPOS=43,22;NALOD=0.922,-5.866e-01;NLOD=3.75,0.945;POPAF=6.00,6.00;RPA=12,11,13;RU=A;STR;STRQ=1;TLOD=3.64,9.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,1:0.057,0.129:14:5,0,0:8,0,1:11,2,1,0 0/1/2:26,3,8:0.109,0.226:37:10,1,4:11,2,3:20,6,10,1 all chr21 43630461 43630461 G T HSF2BP Intron SNP intronic HSF2BP . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 65 chr21 43630461 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15,65|2,2;DP=89;ECNT=1;GERMQ=93;MBQ=36,20;MFRL=201,178;MMQ=60,60;MPOS=12;NALOD=1.23;NLOD=4.82;POPAF=6.00;TLOD=4.78 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.056:19:13,0:6,0:5,14,0,0 0/1:61,4:0.051:65:27,4:32,0:10,51,2,2 all chr21 43630461 43630461 G T HSF2BP Intron SNP intronic HSF2BP . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 65 chr21 43630461 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15,65|2,2;DP=89;ECNT=1;GERMQ=93;MBQ=36,20;MFRL=201,178;MMQ=60,60;MPOS=12;NALOD=1.23;NLOD=4.82;POPAF=6.00;TLOD=4.78 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:19,0:0.056:19:13,0:6,0:5,14,0,0 0/1:61,4:0.051:65:27,4:32,0:10,51,2,2 all chr21 44533954 44533954 G T TSPEAR Intron SNP intronic TSPEAR . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 44533954 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,36|0,2;DP=46;ECNT=1;GERMQ=93;MBQ=35,39;MFRL=202,396;MMQ=60,60;MPOS=42;NALOD=1.02;NLOD=2.71;POPAF=6.00;TLOD=4.32 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.088:9:3,0:6,0:0,9,0,0 0/1:34,2:0.081:36:18,0:16,2:7,27,0,2 all chr21 44533954 44533954 G T TSPEAR Intron SNP intronic TSPEAR . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 44533954 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,36|0,2;DP=46;ECNT=1;GERMQ=93;MBQ=35,39;MFRL=202,396;MMQ=60,60;MPOS=42;NALOD=1.02;NLOD=2.71;POPAF=6.00;TLOD=4.32 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:9,0:0.088:9:3,0:6,0:0,9,0,0 0/1:34,2:0.081:36:18,0:16,2:7,27,0,2 all chr21 44814171 44814171 G T SUMO3 Intron SNP intronic SUMO3 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 55 chr21 44814171 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,75|0,2;DP=91;ECNT=1;GERMQ=93;MBQ=35,41;MFRL=206,269;MMQ=60,60;MPOS=32;NALOD=1.45;NLOD=8.13;POPAF=6.00;TLOD=4.08 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:31,0:0.034:31:23,0:7,0:5,26,0,0 0/1:53,2:0.053:55:27,0:26,2:4,49,0,2 all chr21 44814171 44814171 G T SUMO3 Intron SNP intronic SUMO3 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 55 chr21 44814171 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,75|0,2;DP=91;ECNT=1;GERMQ=93;MBQ=35,41;MFRL=206,269;MMQ=60,60;MPOS=32;NALOD=1.45;NLOD=8.13;POPAF=6.00;TLOD=4.08 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:31,0:0.034:31:23,0:7,0:5,26,0,0 0/1:53,2:0.053:55:27,0:26,2:4,49,0,2 all chr21 44886559 44886559 A G ITGB2 Intron SNP intronic ITGB2 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 44886559 . A G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=16,29|0,2;DP=50;ECNT=1;GERMQ=93;MBQ=34,36;MFRL=241,319;MMQ=60,60;MPOS=35;NALOD=1.09;NLOD=3.26;POPAF=6.00;TLOD=3.68 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.075:11:7,0:2,0:7,4,0,0 0/1:34,2:0.078:36:13,0:21,2:9,25,0,2 all chr21 44886559 44886559 A G ITGB2 Intron SNP intronic ITGB2 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 44886559 . A G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=16,29|0,2;DP=50;ECNT=1;GERMQ=93;MBQ=34,36;MFRL=241,319;MMQ=60,60;MPOS=35;NALOD=1.09;NLOD=3.26;POPAF=6.00;TLOD=3.68 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.075:11:7,0:2,0:7,4,0,0 0/1:34,2:0.078:36:13,0:21,2:9,25,0,2 all chr21 45293550 45293550 G T LINC00205 RNA SNP ncRNA_exonic LINC00205 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 24 chr21 45293550 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13,23|0,2;DP=40;ECNT=1;GERMQ=82;MBQ=33,35;MFRL=204,201;MMQ=60,60;MPOS=32;NALOD=1.11;NLOD=3.61;POPAF=6.00;TLOD=4.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:14,0:0.071:14:8,0:6,0:3,11,0,0 0/1:22,2:0.129:24:14,0:8,2:10,12,0,2 all chr21 45293550 45293550 G T LINC00205 RNA SNP ncRNA_exonic LINC00205 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 24 chr21 45293550 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13,23|0,2;DP=40;ECNT=1;GERMQ=82;MBQ=33,35;MFRL=204,201;MMQ=60,60;MPOS=32;NALOD=1.11;NLOD=3.61;POPAF=6.00;TLOD=4.27 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:14,0:0.071:14:8,0:6,0:3,11,0,0 0/1:22,2:0.129:24:14,0:8,2:10,12,0,2 all chr21 45989561 45989561 G T COL6A1 Intron SNP intronic COL6A1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 45989561 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=40,14|1,1;DP=58;ECNT=1;GERMQ=93;MBQ=31,34;MFRL=175,194;MMQ=60,60;MPOS=15;NALOD=1.09;NLOD=3.22;POPAF=6.00;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:14,0:0.076:14:7,0:4,0:9,5,0,0 0/1:40,2:0.073:42:15,1:24,1:31,9,1,1 all chr21 45989561 45989561 G T COL6A1 Intron SNP intronic COL6A1 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 45989561 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=40,14|1,1;DP=58;ECNT=1;GERMQ=93;MBQ=31,34;MFRL=175,194;MMQ=60,60;MPOS=15;NALOD=1.09;NLOD=3.22;POPAF=6.00;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:14,0:0.076:14:7,0:4,0:9,5,0,0 0/1:40,2:0.073:42:15,1:24,1:31,9,1,1 all chr21 46116595 46116595 G T COL6A2 Intron SNP intronic COL6A2 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 46116595 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=44,13|2,0;DP=60;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=196,191;MMQ=60,60;MPOS=29;NALOD=1.25;NLOD=5.02;POPAF=6.00;TLOD=3.36 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:17,0:0.053:17:6,0:9,0:14,3,0,0 0/1:40,2:0.077:42:18,1:20,1:30,10,2,0 all chr21 46116595 46116595 G T COL6A2 Intron SNP intronic COL6A2 . . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 42 chr21 46116595 . G T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=44,13|2,0;DP=60;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=196,191;MMQ=60,60;MPOS=29;NALOD=1.25;NLOD=5.02;POPAF=6.00;TLOD=3.36 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:17,0:0.053:17:6,0:9,0:14,3,0,0 0/1:40,2:0.077:42:18,1:20,1:30,10,2,0 all chr21 46128971 46128971 G A COL6A2 3'UTR SNP UTR3 COL6A2 NM_058175:c.*43G>A . . 21q22.3 9.94e-05 0 0 0 0 9.062e-05 0 0.0004 rs373898491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 46128971 . G A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=14,31|1,1;DP=48;ECNT=1;GERMQ=93;MBQ=31,32;MFRL=189,226;MMQ=60,60;MPOS=18;NALOD=1.09;NLOD=3.26;POPAF=6.00;TLOD=3.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.075:11:4,0:6,0:2,9,0,0 0/1:34,2:0.086:36:17,1:14,1:12,22,1,1 all chr21 46128971 46128971 G A COL6A2 3'UTR SNP UTR3 COL6A2 NM_058175:c.*43G>A . . 21q22.3 9.94e-05 0 0 0 0 9.062e-05 0 0.0004 rs373898491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 36 chr21 46128971 . G A . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=14,31|1,1;DP=48;ECNT=1;GERMQ=93;MBQ=31,32;MFRL=189,226;MMQ=60,60;MPOS=18;NALOD=1.09;NLOD=3.26;POPAF=6.00;TLOD=3.01 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:11,0:0.075:11:4,0:6,0:2,9,0,0 0/1:34,2:0.086:36:17,1:14,1:12,22,1,1 all chr21 46287125 46287125 - A YBEY Splice_Site SNP splicing YBEY NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A;NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 56 chr21 46287125 . T TA,TAAAAA . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=22,33|2,1|4,10;DP=92;ECNT=1;GERMQ=1;MBQ=32,37,30;MFRL=181,217,261;MMQ=60,60,60;MPOS=29,22;NALOD=0.761,-7.096e+00;NLOD=2.98,-6.387e+00;POPAF=6.00,6.00;RPA=10,11,15;RU=A;STR;STRQ=1;TLOD=3.23,36.93 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,3:0.059,0.236:16:10,0,2:1,0,1:7,6,0,3 0/1/2:42,3,11:0.075,0.209:56:26,0,4:14,3,3:15,27,6,8 all chr21 46287125 46287125 - AAAAA YBEY Splice_Site INS splicing YBEY NM_001314026:exon2:c.210+2->AAAAA;NM_001006114:exon2:c.210+2->AAAAA;NM_001314022:exon2:c.210+2->AAAAA;NM_001314025:exon2:c.210+2->AAAAA;NM_058181:exon2:c.210+2->AAAAA;NM_001314026:exon2:c.210+2->AAAAA;NM_001006114:exon2:c.210+2->AAAAA;NM_001314022:exon2:c.210+2->AAAAA;NM_001314025:exon2:c.210+2->AAAAA;NM_058181:exon2:c.210+2->AAAAA . . 21q22.3 0.1701 0.0983 0.1967 0.1052 0.2196 0.1901 0.1594 0.1345 rs530846715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 56 chr21 46287125 . T TA,TAAAAA . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=22,33|2,1|4,10;DP=92;ECNT=1;GERMQ=1;MBQ=32,37,30;MFRL=181,217,261;MMQ=60,60,60;MPOS=29,22;NALOD=0.761,-7.096e+00;NLOD=2.98,-6.387e+00;POPAF=6.00,6.00;RPA=10,11,15;RU=A;STR;STRQ=1;TLOD=3.23,36.93 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,3:0.059,0.236:16:10,0,2:1,0,1:7,6,0,3 0/1/2:42,3,11:0.075,0.209:56:26,0,4:14,3,3:15,27,6,8 all chr21 46287125 46287125 - A YBEY Splice_Site SNP splicing YBEY NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A;NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 56 chr21 46287125 . T TA,TAAAAA . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=22,33|2,1|4,10;DP=92;ECNT=1;GERMQ=1;MBQ=32,37,30;MFRL=181,217,261;MMQ=60,60,60;MPOS=29,22;NALOD=0.761,-7.096e+00;NLOD=2.98,-6.387e+00;POPAF=6.00,6.00;RPA=10,11,15;RU=A;STR;STRQ=1;TLOD=3.23,36.93 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,3:0.059,0.236:16:10,0,2:1,0,1:7,6,0,3 0/1/2:42,3,11:0.075,0.209:56:26,0,4:14,3,3:15,27,6,8 all chr21 46287125 46287125 - AAAAA YBEY Splice_Site INS splicing YBEY NM_001314026:exon2:c.210+2->AAAAA;NM_001006114:exon2:c.210+2->AAAAA;NM_001314022:exon2:c.210+2->AAAAA;NM_001314025:exon2:c.210+2->AAAAA;NM_058181:exon2:c.210+2->AAAAA;NM_001314026:exon2:c.210+2->AAAAA;NM_001006114:exon2:c.210+2->AAAAA;NM_001314022:exon2:c.210+2->AAAAA;NM_001314025:exon2:c.210+2->AAAAA;NM_058181:exon2:c.210+2->AAAAA . . 21q22.3 0.1701 0.0983 0.1967 0.1052 0.2196 0.1901 0.1594 0.1345 rs530846715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.25 . 56 chr21 46287125 . T TA,TAAAAA . germline;multiallelic;normal_artifact;slippage AS_FilterStatus=weak_evidence|SITE;AS_SB_TABLE=22,33|2,1|4,10;DP=92;ECNT=1;GERMQ=1;MBQ=32,37,30;MFRL=181,217,261;MMQ=60,60,60;MPOS=29,22;NALOD=0.761,-7.096e+00;NLOD=2.98,-6.387e+00;POPAF=6.00,6.00;RPA=10,11,15;RU=A;STR;STRQ=1;TLOD=3.23,36.93 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:13,0,3:0.059,0.236:16:10,0,2:1,0,1:7,6,0,3 0/1/2:42,3,11:0.075,0.209:56:26,0,4:14,3,3:15,27,6,8